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Alexis Brice

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Serena Lattante; Isabelle Le Ber; Alexis Brice; Agnès Camuzat; Edor Kabashi
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.
Elodie Martin; Jean-Jacques Martin; Chokri Mhiri; Emeline Mundwiller; Andrés Caballero Oteyza; Agnès Rastetter; Ludger Schöls; Rebecca Schüle; Katrien Smets; Amir Boukhris; Alexis Brice; Peter De Jonghe; Tine Deconinck; Alexandra Durr; Michael A Gonzalez; Ludmila Jornea; Edor Kabashi; Foudil Lamari; José L Loureiro; Marc Wessner; Stephan Zuchner; Giovanni Stevanin
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Olga Corti; Alexis Brice
Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease.

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2013: Serena Lattante; Isabelle Le Ber; Alexis Brice; Agnès Camuzat; Edor Kabashi
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.
Neurobiology of aging 2013;34(6):1709.e1-2.
2013: Elodie Martin; Jean-Jacques Martin; Chokri Mhiri; Emeline Mundwiller; Andrés Caballero Oteyza; Agnès Rastetter; Ludger Schöls; Rebecca Schüle; Katrien Smets; Amir Boukhris; Alexis Brice; Peter De Jonghe; Tine Deconinck; Alexandra Durr; Michael A Gonzalez; Ludmila Jornea; Edor Kabashi; Foudil Lamari; José L Loureiro; Marc Wessner; Stephan Zuchner; Giovanni Stevanin
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
American journal of human genetics 2013;92(2):238-44.
2013: Olga Corti; Alexis Brice
Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease.
Current opinion in neurobiology 2013;23(1):100-8.
2013: N Collongues; Nelly Boehm; Alexis Brice; C Depienne; Alexandra Dürr; Andoni Echaniz-Laguna; P Labauge; E Leguern; Brigitte Samama; Giovanni Stevanin; Jérôme de Seze
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2013;20(2):398-401.
2012: Elodie Martin; Seyedeh Maryam Alavi Naini; Agnès Rastetter; Sophie Rivaud-Péchoux; Alexis Brice; Edor Kabashi; Alissia Maouedj; Giovanni Stevanin; Constantin Yanicostas; Nadia Soussi-Yanicostas
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.
Neurobiology of disease 2012;48(3):299-308.
2012: Florian Mittag; Mike A Nalls; Mohamad Saad; Claudia Schulte; Manu Sharma; Javier Simón-Sánchez; Andrew B Singleton; Nicholas W Wood; Andreas Zell; Zoltan Bochdanovits; Alexis Brice; Finja Büchel; Thomas Gasser; J Raphael Gibbs; John Hardy; Dena G Hernandez; Peter Heutink; Andreas Jahn; Margaux Keller; Suzanne Lesage; Maria Martinez
Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.
Human mutation 2012;33(12):1708-18.
2012: Margaux F Keller; Laura L Kilarski; Kari Majamaa; Maria Martinez; Florian Mittag; Huw R Morris; Valentina Moskvina; Michael A Nalls; Nayia Nicolaou; Mohamad Saad; Claudia Schulte; Manu Sharma; Javier Simón-Sánchez; Andrew B Singleton; Hreinn Stefánsson; Nigel Williams; Nicholas W Wood; Pauli Ylikotila; Francesco Bettella; Jose Bras; Alexis Brice; Finja Büchel; Alexandra Durr; Thomas Gasser; J Raphael Gibbs; Rita Guerreiro; John Hardy; Dena G Hernandez; Peter Heutink; Peter Holmans
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
Human molecular genetics 2012;21(22):4996-5009.
2012: Stephan Klebe; Elodie Lejeune; Cecilia Mancini; Jean-Michel Mayer; Elisabeth Ollagnon; Jean-Michel Rozet; Jérôme de Seze; Guilhem Sole; Giovanni Stevanin; Mathieu Anheim; Alexis Brice; Alfredo Brusco; Philippe Busson; Cécile Cazeneuve; Georges Challe; Perrine Charles; Patrick F Chinnery; Michel Clanet; Julien Cottineau; Christel Depienne; Alain Destée; Hélène Dollfus; Estelle Fedirko; Xavier Ferrer; Bertrand Fontaine; Sylvie Gerber; Josseline Kaplan; Alexandra Durr
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Brain : a journal of neurology 2012;135(Pt 10):2980-93.
2012: Fanny Mochel; Marvin R Natowicz; J Michael Powers; Hanna Rosenmann; Raphael Schiffmann; Frédéric Sedel; Marjan E Steenweg; Marjo S van der Knaap; Mary Wallace; Hasan O Akman; Varda Barash; Alexis Brice; Bruno Barcelos Da Nobrega; Sophie Demeret; Alexandra Durr; Brent L Fogel; Roseline Froissart; J Moshe Gomori; Or Kakhlon; Pascal Laforêt; Richard Levy; Catherine Lubetzki; Thierry Maisonobe; Alexander Lossos
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Annals of neurology 2012;72(3):433-41.
2012: Suzanne Lesage; Ebba Lohmann; Anne-Marie Ouvrard-Hernandez; François Tison; François Viallet; Marie Vidailhet; Mathieu Anheim; Anne-Marie Bonnet; Alexis Brice; Christel Condroyer; Philippe Damier; Franck Durif; Alexandra Durr; Aurélie Honoré; Stephan Klebe
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
Neurobiology of aging 2012;33(9):2233.e1-2233.e5.
2012: Stephan Klebe; Israela Lerer; Alexander Lossos; Cecilia Marelli; Elodie Martin; Vincent Meyer; Adel Misk; Emeline Mundwiller; Magdalena Nawara; Laurent Orlando; Agnès Rastetter; Ruth Sheffer; Hamid Azzedine; Delphine Bouteiller; Alexis Brice; Wassila Carpentier; Alexandra Durr; Khalid H El-Hachimi; Moriya Gamliel; Marion Gaussen; Gabor Gyapay; Batel Zimmerman; Giovanni Stevanin
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
European journal of human genetics : EJHG 2012;20(6):645-9.
2012: S Lesage; F Tison; C Brefel-Courbon; Alexis Brice; C Condroyer; A Dürr; A Honoré; S Klebe
Identification of VPS35 mutations replicated in French families with Parkinson disease.
Neurology 2012;78(18):1449-50.
2012: Stéphanie Millecamps; Carine Moigneu; Pierre-François Pradat; Danielle Seilhean; Elisa Teyssou; Nadia Vandenberghe; Séverine Boillée; Alexis Brice; Gaëlle Bruneteau; William Camu; Cécile Cazeneuve; Philippe Corcia; Véronique Danel-Brunaud; Marine Giraudeau; Lucette Lacomblez; Isabelle Le Ber; Nadine Le Forestier; Eric LeGuern; Vincent Meininger; François Salachas
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
Journal of medical genetics 2012;49(4):258-63.
2012: Sophie Tezenas du Montcel; Nadia Vandenberghe; Carlo Vincitorio; Mathieu Anheim; Alexis Brice; Cécile Cazeneuve; Perrine Charles; David Devos; Cyril Goizet; Lucie Guyant-Maréchal; Alice Le Bayon; Isabelle Le Ber; Cecilia Marelli; Karine N'Guyen; Pascale Ribai; C M E Tallaksen; Maya Tchikviladzé; Alexandra Durr
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Archives of neurology 2012;69(4):500-8.
2012: Stéphanie Millecamps; Pierre-François Pradat; Danielle Seilhean; Nadia Vandenberghe; Séverine Boillée; Alexis Brice; Gaëlle Bruneteau; William Camu; Cécile Cazeneuve; Philippe Corcia; Véronique Danel-Brunaud; Lucette Lacomblez; Nadine Le Forestier; Eric LeGuern; Vincent Meininger; François Salachas
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.
Neurobiology of aging 2012;33(4):839.e1-3.
2012: Marion Yger; Yves Alembik; Alexis Brice; Cécile Cazeneuve; Andoni Echaniz-Laguna; Samantha Girard; Eric LeGuern; Thierry Maisonobe; Tanya Stojkovic; Sandrine Tardieu; Odile Dubourg
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Journal of the peripheral nervous system : JPNS 2012;17(1):112-22.
2012: Christel Depienne; Isabelle Dusart; Constance Flamand-Roze; Marion Gaussen; Sergiu Groppa; Stephan Klebe; Christine Klein; Yannick Marie; Aurélie Méneret; Sabine Meunier; Kailash Bhatia; Ségolène Billot; Delphine Bouteiller; Alexis Brice; Vanessa Brochard; Norbert Brueggemann; Wassila Carpentier; Fanny Charbonnier-Beaupel; Massimo Cincotta; Jean-Christophe Corvol; Jean-Paul Saraiva; Giovanni Stevanin; Marie Vidailhet; Rosine Wehrle; Emmanuel Roze
RAD51 haploinsufficiency causes congenital mirror movements in humans.
American journal of human genetics 2012;90(2):301-7.
2012: Mathieu Anheim; B Bonaïti; C Bonaïti-Pellié; Alexis Brice; C Condroyer; Alexandra Durr; A Elbaz; S Lesage; P Pollak; F Viallet
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.
Neurology 2012;78(6):417-20.
2012: Constantin Yanicostas; Giovanni Stevanin; Elisa Barbieri; Alexis Brice; Masahiko Hibi; Nadia Soussi-Yanicostas
Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.
PloS one 2012;7(11):e50705.
2012: Simon Edvardson; Alexis Brice; Yuval Cinnamon; Lois E Greene; Chaim Jalas; Klaus H Kaestner; Suzanne Lesage; Avraham Shaag; Albert Taraboulos; Asaf Ta-Shma; Yang-In Yim; Shamir Zenvirt; Orly Elpeleg
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
PloS one 2012;7(5):e36458.
2011: Christel Depienne; Alexis Brice
Unlocking the genetics of paroxysmal kinesigenic dyskinesia.
Brain : a journal of neurology 2011;134(Pt 12):3431-4.
2011: Cyril Goizet; Didier Hannequin; Didier Lacombe; Eric LeGuern; Stanislas Lyonnet; Marie-Laure Martin-Négrier; Emeline Mundwiller; Elisabeth Ollagnon-Roman; Anne-Marie Ouvrard-Hernandez; Julie Pilliod; Jean-François Pinel; Rodrigue Rossignol; Guilhem Solé; Giovanni Benard; Amir Boukhris; Alexis Brice; Cécile Cazeneuve; Perrine Charles; Isabelle Coupry; Christel Depienne; Alexandra Durr; Christel Dussert; Estelle Fedirko; Imed Feki; Bertrand Fontaine; Sylvie Forlani; Annick Toutain; Jacqueline Yaouanq; Giovanni Stevanin
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Human mutation 2011;32(10):1118-27.
2011: S Assami; Hamid Azzedine; Alexis Brice; Meriam Djemai; Djamel Grid; Tarik Hamadouche; Soulaiman Mahoui; Samira Makri; Emeline Mundwiller; S Nouioua; Giovanni Stevanin; Meriem Tazir
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Movement disorders : official journal of the Movement Disorder Society 2011;26(9):1777-9.
2011: Emmanuelle Cousin; Jean-François Deleuze; Colette Dib; Emmanuelle Génin; Didier Hannequin; Sandrine Macé; Gaëlle Muzard; Laurent Pradier; Corinne Rocher; Alexis Brice; Dominique Campion
No replication of genetic association between candidate polymorphisms and Alzheimer's disease.
Neurobiology of aging 2011;32(8):1443-51.
2011: Reena Prity Murmu; Elodie Martin; Agnès Rastetter; Typhaine Esteves; Marie-Paule Muriel; Khalid Hamid El Hachimi; Paola Silvia Denora; Aurélien Dauphin; José Carlos Fernandez; Charles Duyckaerts; Alexis Brice; Frédéric Darios; Giovanni Stevanin
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
Molecular and cellular neurosciences 2011;47(3):191-202.
2011: Cecilia Marelli; Joyce van de Leemput; Janel O Johnson; Francois Tison; Christel Thauvin-Robinet; Fabienne Picard; Christine Tranchant; Dena G Hernandez; Bernard Huttin; Jacques Boulliat; Iban Sangla; Christian Marescaux; Serge Brique; Hélène Dollfus; Sampath Arepalli; Isabelle Benatru; Elisabeth Ollagnon; Sylvie Forlani; John Hardy; Giovanni Stevanin; Alexandra Dürr; Andrew Singleton; Alexis Brice
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Archives of neurology 2011;68(5):637-43.
2011: C Marelli; Giovanni Stevanin; Alexis Brice; C Cazeneuve; Alexandra Dürr
Autosomal dominant cerebellar ataxias.
Revue neurologique 2011;167(5):385-400.
2011: Danielle Seilhean; Isabelle Le Ber; Marie Sarazin; Lucette Lacomblez; Stéphanie Millecamps; François Salachas; Pierre-François Pradat; Nadine Le Forestier; Eric LeGuern; Bruno Dubois; Vincent Meininger; Alexis Brice; JEAN-JACQUES HAUW; Charles Duyckaerts
Fronto-temporal lobar degeneration: neuropathology in 60 cases.
Journal of neural transmission (Vienna, Austria : 1996) 2011;118(5):753-64.
2011: Cecilia Marelli; Patrizia Amati-Bonneau; Pascal Reynier; Valérie Layet; Antoine Layet; Giovanni Stevanin; Etienne Brissaud; Dominique Bonneau; Alexandra Durr; Alexis Brice
Heterozygous OPA1 mutations in Behr syndrome.
Brain : a journal of neurology 2011;134(Pt 4):e169; author reply e170.
2011: Stéphanie Millecamps; Séverine Boillée; Elodie Chabrol; William Camu; Cécile Cazeneuve; François Salachas; Pierre-François Pradat; Véronique Danel-Brunaud; Nadia Vandenberghe; Philippe Corcia; Nadine Le Forestier; Lucette Lacomblez; Gaëlle Bruneteau; Danielle Seilhean; Alexis Brice; Josué Feingold; Vincent Meininger; Eric LeGuern
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Neurobiology of aging 2011;32(3):557.e11-3.
2011: Ellis Chan; Perrine Charles; Pascale Ribai; Cyril Goizet; Cecilia Marelli; Carlo-Maria Vincitorio; Alice Le Bayon; Lucie Guyant-Maréchal; Nadia Vandenberghe; Mathieu Anheim; David Devos; Leorah Freeman; Isabelle Le Ber; Karine N'Guyen; Maya Tchikviladzé; Pierre Labauge; Didier Hannequin; Alexis Brice; Alexandra Durr; Sophie Tezenas du Montcel
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Movement disorders : official journal of the Movement Disorder Society 2011;26(3):534-8.
2011: Fabienne Clot; David Grabli; Pierre Burbaud; Magali Aya; Pascal Derkinderen; Luc Defebvre; Philippe Damier; Pierre Krystkowiak; Pierre Pollak; Eric LeGuern; Chan San; Agnès Camuzat; Emmanuel Roze; Marie Vidailhet; Alexandra Durr; Alexis Brice
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
Neurogenetics 2011;12(1):87-9.
2011: Christel Depienne; M Cincotta; S Billot; D Bouteiller; S Groppa; V Brochard; C Flamand; C Hubsch; Sabine Meunier; F Giovannelli; S Klebe; Jean-Christophe Corvol; Marie Vidailhet; Alexis Brice; Emmanuel Roze
A novel DCC mutation and genetic heterogeneity in congenital mirror movements.
Neurology 2011;76(3):260-4.
2010: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine V A M Knoers
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
American journal of human genetics 2010;87(6):813-9.
2010: Soreya Belarbi; Nassima Hecham; Suzanne Lesage; Mohamed I Kediha; Nourredine Smail; Traki Benhassine; Farida Ysmail-Dahlouk; Ebba Lohman; Badia Benhabyles; Tarik Hamadouche; Salima Assami; Alexis Brice; Meriem Tazir
LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort.
Parkinsonism & related disorders 2010;16(10):676-9.
2010: Mustapha Ghanim; Léna Guillot-Noel; Florence Pasquier; Ludmila Jornea; Vincent Deramecourt; Bruno Dubois; Isabelle Le Ber; Alexis Brice
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.
Journal of neurology 2010;257(12):2032-6.
2010: Peter Bauer; Giovanni Stevanin; Christian Beetz; Matthis Synofzik; Tanja Schmitz-Hübsch; Ullrich Wüllner; Eric Berthier; Elisabeth Ollagnon-Roman; Olaf Riess; Sylvie Forlani; Emeline Mundwiller; Alexandra Durr; Ludger Schöls; Alexis Brice
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Journal of neurology, neurosurgery, and psychiatry 2010;81(11):1229-32.
2010: Claudia Cagnoli; Giovanni Stevanin; Alessandro Brussino; Marco Barberis; Cecilia Mancini; Russell L Margolis; Susan E Holmes; Marcello Nobili; Sylvie Forlani; Sergio Padovan; Patrizia Pappi; Cécile Zaros; Isabelle Leber; Pascale Ribai; Luisa Pugliese; Corrado Assalto; Alexis Brice; Nicola Migone; Alexandra Dürr; Alfredo Brusco
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Human mutation 2010;31(10):1117-24.
2010: Amir Boukhris; Imed Feki; Nizar Elleuch; Mohamed Imed Miladi; Anne Boland-Augé; Jérémy Truchetto; Emeline Mundwiller; Nadia Jezequel; Diana Zelenika; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
Neurogenetics 2010;11(4):441-8.
2010: A R Troiano; Alexis Elbaz; Ebba Lohmann; S Belarbi; Marie Vidailhet; Anne-Marie Bonnet; Suzanne Lesage; Pierre Pollak; C Cazeneuve; M Borg; J Feingold; Alexandra Dürr; M Tazir; Alexis Brice
Low disease risk in relatives of north african lrrk2 Parkinson disease patients.
Neurology 2010;75(12):1118-9.
2010: Alexis Brice; C Barnichon; Dan Benhamou
Intracranial arachnoid cysts and obstetric anesthesia: two case reports.
Annales françaises d'anesthèsie et de rèanimation 2010;29(9):648-50.
2010: Jeremie Vitte; Sabine Traver; André Maués De Paula; Suzanne Lesage; Giorgio Rovelli; Olga Corti; Charles Duyckaerts; Alexis Brice
Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease.
Journal of neuropathology and experimental neurology 2010;69(9):959-72.
2010: Stéphanie Millecamps; François Salachas; Cécile Cazeneuve; Paul Gordon; Bernard Bricka; Agnès Camuzat; Léna Guillot-Noël; Odile Russaouen; Gaëlle Bruneteau; Pierre-François Pradat; Nadine Le Forestier; Nadia Vandenberghe; Véronique Danel-Brunaud; Nathalie Guy; Christel Thauvin-Robinet; Lucette Lacomblez; Philippe Couratier; Didier Hannequin; Danielle Seilhean; Isabelle Le Ber; Philippe Corcia; William Camu; Alexis Brice; Guy Rouleau; Eric LeGuern; Vincent Meininger
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Journal of medical genetics 2010;47(8):554-60.
2010: Suzanne Lesage; Etienne Patin; Christel Condroyer; Anne-Louise Leutenegger; Ebba Lohmann; Nir Giladi; Anat Bar-Shira; Soraya Belarbi; Nassima Hecham; Pierre Pollak; Anne-Marie Ouvrard-Hernandez; Soraya Bardien; Jonathan Carr; Traki Benhassine; Hiroyuki Tomiyama; Caroline Pirkevi; Tarik Hamadouche; Cécile Cazeneuve; A Nazli Basak; Nobutaka Hattori; Alexandra Dürr; Meriem Tazir; Avi Orr-Urtreger; Lluis Quintana-Murci; Alexis Brice
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
Human molecular genetics 2010;19(10):1998-2004.
2010: Boris Keren; Aurélia Jacquette; Christel Depienne; Patricia Leite; Alexandra Durr; Wassila Carpentier; Baya Benyahia; Gerard Ponsot; Florent Soubrier; Alexis Brice; Delphine Héron
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
Neurogenetics 2010;11(2):273-4.
2010: Oriane Broustal; Agnès Camuzat; Lena Guillot-Noël; Nathalie Guy; Stéphanie Millecamps; Didier Deffond; Lucette Lacomblez; Véronique Golfier; Didier Hannequin; François Salachas; William Camu; Mira Didic; Bruno Dubois; Vincent Meininger; Isabelle Le Ber; Alexis Brice
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
Journal of Alzheimer's disease : JAD 2010;22(3):765-9.
2009: Cristine Alves da Costa; Claire Sunyach; Emilie Giaime; Andrew West; Olga Corti; Alexis Brice; Stephen Safe; Patrick M Abou-Sleiman; Nicholas W Wood; Hitoshi Takahashi; Mathew S Goldberg; Jie Shen; Frédéric Checler
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
Nature cell biology 2009;11(11):1370-5.
2009: Nina Rawal; Olga Corti; Paola Sacchetti; Hector Ardilla-Osorio; Bita Sehat; Alexis Brice; Ernest Arenas
Parkin protects dopaminergic neurons from excessive Wnt/beta-catenin signaling.
Biochemical and biophysical research communications 2009;388(3):473-8.
2009: C Goizet; Amir Boukhris; D Maltete; Lucie Guyant-Maréchal; J Truchetto; E Mundwiller; S Hanein; P Jonveaux; F Roelens; J Loureiro; E Godet; S Forlani; J Melki; M Auer-Grumbach; J C Fernandez; P Martin-Hardy; I Sibon; G Sole; I Orignac; Chokri Mhiri; Paula Coutinho; Alexandra Durr; Alexis Brice; Giovanni Stevanin
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Neurology 2009;73(14):1111-9.
2009: Marie-Paule Muriel; Aurélien Dauphin; Michito Namekawa; Annie Gervais; Alexis Brice; Merle Ruberg
Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.
Journal of neurochemistry 2009;110(5):1607-16.
2009: Christel Depienne; Daniel Moreno-De-Luca; Delphine Heron; Delphine Bouteiller; Aurélie Gennetier; Richard Delorme; Pauline Chaste; Jean-Pierre Siffroi; Sandra Chantot-Bastaraud; Baya Benyahia; Oriane Trouillard; Gudrun Nygren; Svenny Kopp; Maria Johansson; Maria Rastam; Lydie Burglen; Eric LeGuern; Alain Verloes; Marion Leboyer; Alexis Brice; Christopher Gillberg; Catalina Betancur
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Biological psychiatry 2009;66(4):349-59.
2009: Maria-João Ribeiro; Stéphane Thobois; Ebba Lohmann; Sophie Tezenas du Montcel; Suzanne Lesage; Antoine Pelissolo; Bruno Dubois; Luc Mallet; Pierre Pollak; Yves Agid; Emmanuel Broussolle; Alexis Brice; Philippe Remy
A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2009;50(8):1244-50.
2009: Fabienne Clot; David Grabli; Cécile Cazeneuve; Emmanuel Roze; Pierre Castelnau; Brigitte Chabrol; Pierre Landrieu; Karine Nguyen; Gérard Ponsot; Myriem Abada; Diane Doummar; Philippe Damier; Roger Gil; Stéphane Thobois; Alana J Ward; Michael Hutchinson; Annick Toutain; Fabienne Picard; Agnès Camuzat; Estelle Fedirko; Chankannira Sân; Delphine Bouteiller; Eric LeGuern; Alexandra Durr; Marie Vidailhet; Alexis Brice
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Brain : a journal of neurology 2009;132(Pt 7):1753-63.
2009: S Lesage; C Condroyer; A Lannuzel; E Lohmann; A Troiano; F Tison; P Damier; S Thobois; A-M Ouvrard-Hernandez; S Rivaud-Péchoux; C Brefel-Courbon; Alain Destée; C Tranchant; M Romana; L Leclere; A Dürr; Alexis Brice
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.
Journal of medical genetics 2009;46(7):458-64.
2009: Cécile Cazeneuve; Channkanira Sân; Salah A Ibrahim; Maowia M Mukhtar; Musa M Kheir; Eric LeGuern; Alexis Brice; Mustafa A Salih
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.
Neurogenetics 2009;10(3):265-70.
2009: C Pirkevi; S Lesage; C Condroyer; H Tomiyama; Nobutaka Hattori; S Ertan; Alexis Brice; A N Başak
A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype.
Neurogenetics 2009;10(3):271-3.
2009: Cyril Goizet; Amir Boukhris; Alexandra Durr; christian beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant-Maréchal; Bertrand Fontaine; João Guimarães; Bertrand Isidor; Olivier Chazouillères; Dominique Wendum; Djamel Grid; Françoise Chevy; Patrick F Chinnery; Paula Coutinho; Jean-Philippe Azulay; Imed Feki; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain : a journal of neurology 2009;132(Pt 6):1589-600.
2009: Amir Boukhris; Giovanni Stevanin; Imed Feki; P Denora; N Elleuch; Mohamed Imed Miladi; C Goizet; J Truchetto; S Belal; Alexis Brice; Chokri Mhiri
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
Clinical genetics 2009;75(6):527-36.
2009: Delia Lorenz; Stephan Klebe; Giovanni Stevanin; Sandra Thier; Almut Nebel; JOSUE FEINGOLD; Henrik Frederiksen; Elodie Denis; Kaare Christensen; Stefan Schreiber; Alexis Brice; Günther Deuschl; Alexandra Dürr
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
European journal of human genetics : EJHG 2009;17(6):766-73.
2009: Mark Hannibal; E K Ruzzo; L R Miller; B Betz; J G Buchan; D M Knutzen; K Barnett; M L Landsverk; Alexis Brice; E LeGuern; H M Bedford; B B Worrall; S Lovitt; S H Appel; E Andermann; Thomas D Bird; Phillip F Chance
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Neurology 2009;72(20):1755-9.
2009: I Le Ber; A Camuzat; E Berger; D Hannequin; A Laquerrière; V Golfier; D Seilhean; G Viennet; P Couratier; P Verpillat; S Heath; W Camu; O Martinaud; L Lacomblez; M Vercelletto; F Salachas; F Sellal; M Didic; C Thomas-Anterion; M Puel; B-F Michel; C Besse; C Duyckaerts; V Meininger; D Campion; Bruno Dubois; Alexis Brice
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.
Neurology 2009;72(19):1669-76.
2009: Ebba Lohmann; Laurence Leclere; Francesca De Anna; Suzanne Lesage; Bruno Dubois; Yves Agid; Alexandra Dürr; Alexis Brice
A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Parkinsonism & related disorders 2009;15(4):273-6.
2009: Mélissa Yana Frédéric; Fabienne Clot; Arnaud Blanchard; Claire-Marie Dhaenens; Gaëtan Lesca; Laura Cif; Alexandra Dürr; Marie Vidailhet; Bernard Sablonniere; Alain Calender; Maria Martinez; Nicolas Molinari; Alexis Brice; Mireille Claustres; Sylvie Tuffery-Giraud; Gwenaëlle Collod-Beroud
The p.Asp216His TOR1A allele effect is not found in the French population.
Movement disorders : official journal of the Movement Disorder Society 2009;24(6):919-21.
2009: Diane Doummar; Fabienne Clot; Marie Vidailhet; Alexandra Afenjar; Alexandra Durr; Alexis Brice; Cyril Mignot; Agnès Guet; Thierry Billette de Villemeur; Diana Rodriguez
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
Movement disorders : official journal of the Movement Disorder Society 2009;24(6):943-5.
2009: Suzanne Lesage; Alexis Brice
Parkinson's disease: from monogenic forms to genetic susceptibility factors.
Human molecular genetics 2009;18(R1):R48-59.
2009: Lina Benajiba; Isabelle Le Ber; Agnès Camuzat; Mathieu Lacoste; Catherine Thomas-Anterion; Philippe Couratier; Solenn Legallic; François Salachas; Didier Hannequin; Marielle Decousus; Lucette Lacomblez; Eric Guedj; Véronique Golfier; William Camu; Bruno Dubois; Dominique Campion; Vincent Meininger; Alexis Brice
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
Annals of neurology 2009;65(4):470-3.
2009: Anne Rovelet-Lecrux; Magalie Lecourtois; Catherine Thomas-Anterion; Isabelle Le Ber; Alexis Brice; Thierry Frebourg; Didier Hannequin; Dominique Campion
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.
Human mutation 2009;30(4):E591-602.
2009: F Mochel; F Sedel; A Vanderver; U F H Engelke; J Barritault; B Z Yang; B Kulkarni; D R Adams; F Clot; J H Ding; C R Kaneski; F W Verheijen; B W Smits; F Seguin; Alexis Brice; marie T vanier; M Huizing; R Schiffmann; A Durr; R A Wevers
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Brain : a journal of neurology 2009;132(Pt 3):801-9.
2009: Paola S Denora; David Schlesinger; Carlo Casali; Fernando Kok; Alessandra Tessa; Amir Boukhris; Hamid Azzedine; Maria Teresa Dotti; Claudio Bruno; Jeremy Truchetto; Roberta Biancheri; Estelle Fedirko; Maja Di Rocco; Clarissa Bueno; Alessandro Malandrini; Roberta Battini; Elisabeth Sickl; Maria Fulvia de Leva; Odile Boespflug-Tanguy; Gabriella Silvestri; Alessandro Simonati; Edith Said; Andreas Ferbert; Chiara Criscuolo; Karl Heinimann; Anna Modoni; Peter Weber; Silvia Palmeri; Martina Plasilova; Flavia Pauri; Denise Cassandrini; Carla Battisti; Antonella Pini; Michela Tosetti; Erwin Hauser; Marcella Masciullo; Roberto Di Fabio; Francesca Piccolo; Elodie Denis; Giovanni Cioni; Roberto Massa; Elvio Della Giustina; Olga Calabrese; Mariarosa AD Melone; Giuseppe De Michele; Antonio Federico; Enrico Bertini; Alexandra Durr; Knut Brockmann; Marjo S van der Knaap; Mayana Zatz; Alessandro Filla; Alexis Brice; Giovanni Stevanin; Filippo M Santorelli
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Human mutation 2009;30(3):E500-19.
2009: Paola S Denora; Maria Muglia; Carlo Casali; Jérémy Truchetto; Gabriella Silvestri; Demetrio Messina; Amir Boukrhis; Angela Magariello; Anna Modoni; Marcella Masciullo; Alessandro Malandrini; Maurizio Morelli; Maria Fulvia de Leva; Marcello Villanova; Elisabetta Giugni; Luigi Citrigno; Teresa Rizza; Antonio Federico; Alberto Pierallini; Aldo Quattrone; Alessandro Filla; Alexis Brice; Giovanni Stevanin; Filippo M Santorelli
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Journal of the neurological sciences 2009;277(1-2):22-5.
2009: Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; Wassila Carpentier; Sophie Julia; Alexandra Afenjar; Agnès Gautier; François Rivier; Sophie Meyer; Patrick Berquin; Marie Hélias; Isabelle Py; Serge Rivera; Nadia Bahi-Buisson; Isabelle Gourfinkel-An; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric LeGuern
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
PLoS genetics 2009;5(2):e1000381.
2009: Cyril Goizet; Amir Boukhris; Emeline Mundwiller; Chantal Tallaksen; Sylvie Forlani; Annick Toutain; Nathalie Carriere; Véronique Paquis; Christel Depienne; Alexandra Durr; Giovanni Stevanin; Alexis Brice
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Human mutation 2009;30(2):E376-85.
2009: E Lohmann; S Thobois; S Lesage; E Broussolle; Sophie Tezenas du Montcel; M-J Ribeiro; P Remy; A Pelissolo; Bruno Dubois; L Mallet; Pierre Pollak; Yves Agid; Alexis Brice
A multidisciplinary study of patients with early-onset PD with and without parkin mutations.
Neurology 2009;72(2):110-6.
2009: Margot Fournier; Jeremie Vitte; Jérôme Garrigue; Dominique Langui; Jean-Philippe Dullin; Françoise Saurini; Naïma Hanoun; Fernando Perez-Diaz; Fabien Cornilleau; Chantal Joubert; Héctor Ardila-Osorio; Sabine Traver; René Duchateau; Cécile Goujet-Zalc; Katerina Paleologou; Hilal A Lashuel; Christian Haass; Charles Duyckaerts; Charles Cohen-Salmon; Philipp J Kahle; Michel Hamon; Alexis Brice; Olga Corti
Parkin deficiency delays motor decline and disease manifestation in a mouse model of synucleinopathy.
PloS one 2009;4(8):e6629.
2009: Mathieu Anheim; Clotilde Lagier-Tourenne; Giovanni Stevanin; MC Fleury; Alexandra Durr; Izzie Jacques Namer; Paola Denora; Alexis Brice; Jean-Louis Mandel; Michel Koenig; Christine Tranchant
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
Journal of neurology 2009;256(1):104-8.
2009: Pablo Ibáñez; Suzanne Lesage; Sabine Janin; Ebba Lohmann; Franck Durif; Alain Destée; Anne-Marie Bonnet; Christine Brefel-Courbon; Simon Heath; Diana Zelenika; Yves Agid; Alexandra Dürr; Alexis Brice
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
Archives of neurology 2009;66(1):102-8.
2008: Agnès Camuzat; Marc Romana; Alexandra Dürr; JOSUE FEINGOLD; Alexis Brice; Merle Ruberg; Annie Lannuzel
The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2008;23(16):2384-91.
2008: Guilherme G Riccioppo Rodrigues; Ruth H Walker; Alexis Brice; Cécile Cazeneuve; Odile Russaouen; Helio A G Teive; Renato Puppi Munhoz; Nilson Becker; Salmo Raskin; Lineu Cesar Werneck; Wilson Marques Junior; Vitor Tumas
Huntington's disease-like 2 in Brazil--report of 4 patients.
Movement disorders : official journal of the Movement Disorder Society 2008;23(15):2244-7.
2008: Suzanne Lesage; S Belarbi; A Troiano; C Condroyer; N Hecham; Pierre Pollak; E Lohman; T Benhassine; F Ysmail-Dahlouk; Alexandra Dürr; Meriem Tazir; Alexis Brice
Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?
Neurology 2008;71(19):1550-2.
2008: Eric Guedj; Gilles Allali; Celine Goetz; Isabelle Le Ber; Magali Volteau; Lucette Lacomblez; Pierre Vera; Anne Hitzel; Didier Hannequin; Marielle Decousus; Catherine Thomas-Antérion; Christine Magne; Martine Vercelletto; Anne-Marie Bernard; Mira Didic; Jean-Albert Lotterie; Michèle Puel; Alexis Brice; Marie-Odile Habert; Bruno Dubois
Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementia.
Journal of the neurological sciences 2008;273(1-2):84-7.
2008: A R Troiano; C Cazeneuve; I Le Ber; Anne-Marie Bonnet; S Lesage; Alexis Brice
Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease.
Neurology 2008;71(16):1295; author reply 1295.
2008: Daniel G Healy; Mario Falchi; Sean S O'Sullivan; Vincenzo Bonifati; Alexandra Durr; Susan Bressman; Alexis Brice; Jan Aasly; Cyrus Zabetian; Stefano Goldwurm; Joaquim Ferreira; Eduardo Tolosa; Denise M Kay; Christine Klein; David R Williams; Connie Marras; Anthony E Lang; Zbigniew K Wszolek; Jose Berciano; Anthony H V Schapira; Timothy Lynch; Kailash P Bhatia; Thomas Gasser; Andrew J Lees; Nicholas W Wood
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Lancet neurology 2008;7(7):583-90.
2008: Anne Rovelet-Lecrux; Vincent Deramecourt; Solenn Legallic; Claude-Alain Maurage; Isabelle Le Ber; Alexis Brice; jean-charles lambert; Thierry Frébourg; Didier Hannequin; Florence Pasquier; Dominique Campion
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease.
Neurobiology of disease 2008;31(1):41-5.
2008: Giovanni Stevanin; Merle Ruberg; Alexis Brice
Recent advances in the genetics of spastic paraplegias.
Current neurology and neuroscience reports 2008;8(3):198-210.
2008: Sophie Tezenas du Montcel; Perrine Charles; Pascale Ribai; Cyril Goizet; Alice Le Bayon; Pierre Labauge; Lucie Guyant-Maréchal; Sylvie Forlani; Celine Jauffret; Nadia Vandenberghe; Karine N'guyen; Isabelle Le Ber; David Devos; Carlo-Maria Vincitorio; Mario-Ubaldo Manto; François Tison; Didier Hannequin; Merle Ruberg; Alexis Brice; Alexandra Durr
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Brain : a journal of neurology 2008;131(Pt 5):1352-61.
2008: M Y Frédéric; F Clot; L Cif; A Blanchard; A Dürr; I Vuillaume; G Lesca; A Kreisler; C Davin; T Besnard; F Rousset; D Thorel; C Saquet; D Mechin; L Ozelius; Yves Agid; B Barroso; B Chabrol; V Chan; M Clanet; C Coubes; Alain Destée; K Nguyen; C Vial; M Vidailhet; J Xie; B Sablonniere; A Calender; Alexis Brice; A Roubertie; P Coubes; M Claustres; S Tuffery-Giraud; G Collod-Beroud
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Neurogenetics 2008;9(2):143-50.
2008: Ebba Lohmann; Marie-Laure Welter; Valérie Fraix; Paul Krack; Suzanne Lesage; Sophie Laine; Marie-Laure Tanguy; Jean-Luc Houeto; Valérie Mesnage; Pierre Pollak; Alexandra Durr; Yves Agid; Alexis Brice
Are parkin patients particularly suited for deep-brain stimulation?
Movement disorders : official journal of the Movement Disorder Society 2008;23(5):740-3.
2008: M Anheim; D Chaigne; M Fleury; F M Santorelli; J De Sèze; A Durr; Alexis Brice; M Koenig; C Tranchant
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].
Revue neurologique 2008;164(4):363-8.
2008: Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
American journal of human genetics 2008;82(4):992-1002.
2008: Corinne Lautier; Stefano Goldwurm; Alexandra Dürr; Barbara Giovannone; William G Tsiaras; Gianni Pezzoli; Alexis Brice; Robert J Smith
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
American journal of human genetics 2008;82(4):822-33.
2008: Julien Chapuis; Didier Hannequin; Florence Pasquier; Peter Bentham; Alexis Brice; Isabelle Leber; Thierry Frebourg; Jean-François Deleuze; Emmanuelle Cousin; Uma Thaker; Philippe Amouyel; D M A Mann; Corinne Lendon; Dominique Campion; jean-charles lambert
Association study of the GAB2 gene with the risk of developing Alzheimer's disease.
Neurobiology of disease 2008;30(1):103-6.
2008: Emmanuel Roze; Emmanuelle Apartis; F Clot; N Dorison; S Thobois; L Guyant-Marechal; Christine Tranchant; P Damier; D Doummar; N Bahi-Buisson; N André-Obadia; D Maltete; A Echaniz-Laguna; Yann Péréon; Y Beaugendre; S Dupont; T De Greslan; C P Jedynak; Gérard Ponsot; Jean-Claude Dussaule; Alexis Brice; A Dürr; Marie Vidailhet
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
Neurology 2008;70(13):1010-6.
2008: Amir Boukhris; Giovanni Stevanin; Imed Feki; Elodie Denis; Nizar Elleuch; Mohamed Imed Miladi; Jérémy Truchetto; Paola Denora; Samir Belal; Chokri Mhiri; Alexis Brice
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Archives of neurology 2008;65(3):393-402.
2008: Isabelle Le Ber; Agnès Camuzat; Didier Hannequin; Florence Pasquier; Eric Guedj; Anne Rovelet-Lecrux; Valerie Hahn-Barma; Julie van der Zee; Fabienne Clot; Serge Bakchine; Michèle Puel; Mustapha Ghanim; Lucette Lacomblez; Jacqueline Mikol; Vincent Deramecourt; Pascal Lejeune; Vincent de La Sayette; Serge Belliard; Martine Vercelletto; Christian Meyrignac; Christine Van Broeckhoven; jean-charles lambert; Patrice Verpillat; Dominique Campion; Marie-Odile Habert; Bruno Dubois; Alexis Brice
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Brain : a journal of neurology 2008;131(Pt 3):732-46.
2008: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; José Loureiro; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez-Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; José Vale; Paula Coutinho; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain : a journal of neurology 2008;131(Pt 3):772-84.
2008: Amir Boukhris; Imed Feki; Elodie Denis; Mohamed Imed Miladi; Alexis Brice; Chokri Mhiri; Giovanni Stevanin
Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Movement disorders : official journal of the Movement Disorder Society 2008;23(3):429-33.
2008: Suzanne Lesage; Ebba Lohmann; François Tison; Franck Durif; Alexandra Dürr; Alexis Brice
Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive.
Human genetics 2008;123(1):114.
2008: A K Erichsen; Giovanni Stevanin; P Denora; Alexis Brice; C M E Tallaksen
SPG11--the most common type of recessive spastic paraplegia in Norway?
Acta neurologica Scandinavica. Supplementum 2008;188():46-50.
2008: Giovanni Stevanin; Alexis Brice
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
Cerebellum (London, England) 2008;7(2):170-8.
2008: Cindy Van Humbeeck; Etienne Waelkens; Olga Corti; Alexis Brice; Wim Vandenberghe
Parkin occurs in a stable, non-covalent, approximately 110-kDa complex in brain.
The European journal of neuroscience 2008;27(2):284-93.
2008: Pascale Ribaï; Christel Depienne; Estelle Fedirko; Anne-Catherine Jothy; Caterine Viveweger; Valerie Hahn-Barma; Alexis Brice; Alexandra Durr
Mental deficiency in three families with SPG4 spastic paraplegia.
European journal of human genetics : EJHG 2008;16(1):97-104.
2008: S Lesage; Ebba Lohmann; F Tison; Franck Durif; Alexandra Dürr; Alexis Brice
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.
Journal of medical genetics 2008;45(1):43-6.
2007: Christel Depienne; Giovanni Stevanin; Alexis Brice; Alexandra Durr
Hereditary spastic paraplegias: an update.
Current opinion in neurology 2007;20(6):674-80.
2007: P Charles; Agnès Camuzat; Nawal Benammar; François Sellal; Alain Destée; Anne-Marie Bonnet; S Lesage; Isabelle Le Ber; Giovanni Stevanin; Alexandra Dürr; Alexis Brice
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Neurology 2007;69(21):1970-5.
2007: Nizar Elleuch; Naima Bouslam; Sylvain Hanein; Alexander Lossos; Abdelmadjid Hamri; Stephan Klebe; Vardiella Meiner; Nazha Birouk; Israela Lerer; Djamel Grid; Delphine Bacq; Meriem Tazir; Diana Zelenika; Zohar Argov; Alexandra Durr; Mohamed Yahyaoui; Ali Benomar; Alexis Brice; Giovanni Stevanin
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Neurogenetics 2007;8(4):307-15.
2007: Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
Human genetics 2007;122(3-4):261-73.
2007: Stephan Klebe; Alexandra Durr; Naima Bouslam; Djamel Grid; Caroline Paternotte; Christel Depienne; Sylvain Hanein; Ahmed Bouhouche; Nizar Elleuch; Hamid Azzedine; Sandrine Poea-Guyon; Sylvie Forlani; Elodie Denis; Céline Charon; Jamilé Hazan; Alexis Brice; Giovanni Stevanin
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(7):854-61.
2007: Sandra Martins; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; bing-wen soong; Leal Loureiro; Alexandra Dürr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy Rouleau; Paula Coutinho; António Amorim; Jorge Sequeiros
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Archives of neurology 2007;64(10):1502-8.
2007: Isabelle Le Ber; Julie van der Zee; Didier Hannequin; Ilse Gijselinck; Dominique Campion; Michèle Puel; Annie Laquerrière; Tim De Pooter; Agnès Camuzat; Marleen Van den Broeck; Bruno Dubois; François Sellal; Lucette Lacomblez; Martine Vercelletto; Catherine Thomas-Antérion; Bernard-François Michel; Véronique Golfier; Mira Didic; François Salachas; Charles Duyckaerts; Marc Cruts; Patrice Verpillat; Christine Van Broeckhoven; Alexis Brice
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Human mutation 2007;28(9):846-55.
2007: Christel Depienne; Estelle Fedirko; Jean-Marc Faucheux; Sylvie Forlani; Bernard Bricka; Cyril Goizet; Sylvie Lesourd; Giovanni Stevanin; Merle Ruberg; Alexandra Durr; Alexis Brice
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Neurogenetics 2007;8(3):231-3.
2007: Monica Joch; Ariel R Ase; Carol X-Q Chen; Penny A MacDonald; Maria Kontogiannea; Amadou T Corera; Alexis Brice; Philippe Séguéla; Edward A Fon
Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels.
Molecular biology of the cell 2007;18(8):3105-18.
2007: Eric Guedj; Isabelle Le Ber; Lucette Lacomblez; Bruno Dubois; Patrice Verpillat; Mira Didic; François Salachas; P Vera; Didier Hannequin; Jean-Albert Lotterie; Michèle Puel; M Decousus; Catherine Thomas-Antérion; Christine Magne; Martine Vercelletto; A-M Bernard; Véronique Golfier; Jacques Pasquier; Bernard-François Michel; Izzie J Namer; François Sellal; J Bochet; Magali Volteau; Alexis Brice; Vincent Meininger; Marie-Odile Habert
Brain spect perfusion of frontotemporal dementia associated with motor neuron disease.
Neurology 2007;69(5):488-90.
2007: Isabelle Gourfinkel-An; Charles Duyckaerts; Agnès Camuzat; C Meyrignac; P Sonderegger; Michel Baulac; Alexis Brice
Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
Neurology 2007;69(1):79-83.
2007: Christel Depienne; D Heron; C Betancur; B Benyahia; Oriane Trouillard; D Bouteiller; Alain Verloes; Eric LeGuern; M Leboyer; Alexis Brice
Autism, language delay and mental retardation in a patient with 7q11 duplication.
Journal of medical genetics 2007;44(7):452-8.
2007: Yasuhiko Baba; Matthew C Baker; I Le Ber; Alexis Brice; Lienhard Maeck; Juergen Kohlhase; M Yasuda; Gabriela Stoppe; O Bugiani; A D Sperfeld; Yoshio Tsuboi; Ryan Uitti; Matthew J Farrer; Bernardino Ghetti; Michael Hutton; Zbigniew K Wszolek
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.
Journal of neural transmission (Vienna, Austria : 1996) 2007;114(7):947-50.
2007: Stephan Klebe; Laurence Faivre; Sylvie Forlani; Christel Dussert; Ayman Tourbah; Alexis Brice; Giovanni Stevanin; Alexandra Durr
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.
Archives of neurology 2007;64(6):913-4.
2007: Pascale Ribaï; Karine Nguyen; Valerie Hahn-Barma; Isabelle Gourfinkel-An; Marie Vidailhet; Antoine Legout; Catherine Dodé; Alexis Brice; Alexandra Dürr
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.
Archives of neurology 2007;64(6):813-9.
2007: Giovanni Stevanin; Caroline Paternotte; Paula Coutinho; Stephan Klebe; Nizar Elleuch; José L Loureiro; Elodie Denis; Vitor Tedim Cruz; Alexandra Dürr; Jean-F Prud'homme; Jean Weissenbach; Alexis Brice; Jamilé Hazan
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
Neurology 2007;68(21):1837-40.
2007: Lorraine N Clark; Eneli Haamer; Helen Mejia-Santana; Juliette Harris; Suzanne Lesage; Alexandra Durr; Sabine Janin Bs; Katja Hedrich; Elan D Louis; Lucien J Cote; Howard Andrews; Stanley Fahn; Cheryl Waters; Blair Ford; Steven Frucht; William Scott; Christine Klein; Alexis Brice; Hanno Roomere; Ruth Ottman; Karen Marder
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Movement disorders : official journal of the Movement Disorder Society 2007;22(7):932-7.
2007: N Gaillard; Giovanni Castelnovo; Alexis Brice; Pierre Labauge
[Writer's cramp secondary to spinocerebellar ataxia type 7].
Revue neurologique 2007;163(5):589-91.
2007: Michito Namekawa; Marie-Paule Muriel; A Janer; Morwena Latouche; A Dauphin; Thomas Debeir; Elodie Martin; Charles Duyckaerts; A Prigent; Christel Depienne; Annie Sittler; Alexis Brice; Merle Ruberg
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Molecular and cellular neurosciences 2007;35(1):1-13.
2007: Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Stephan Klebe; Hamid Azzedine; Silvia Di Giandomenico; Anne Boland-Augé; Filippo M Santorelli; Alexandra Durr; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Human genetics 2007;121(3-4):413-20.
2007: Claudia Cagnoli; Alessandro Brussino; Eleonora Di Gregorio; Alfredo Brusco; Giovanni Stevanin; Alexandra Durr; Alexis Brice
The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Movement disorders : official journal of the Movement Disorder Society 2007;22(5):752-3.
2007: Imed Feki; Mohamed Imed Miladi; N Elleuch; Amir Boukhris; G Stévanin; Alexis Brice; Chokri Mhiri
[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)].
Revue neurologique 2007;163(4):476-9.
2007: Pascale Ribaï; Françoise Pousset; Marie-Laure Tanguy; Sophie Rivaud-Pechoux; Isabelle Le Ber; Franchesca Gasparini; Perrine Charles; Anne-Sophie Béraud; Michele Schmitt; Michel Koenig; Alain Mallet; Alexis Brice; Alexandra Dürr
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.
Archives of neurology 2007;64(4):558-64.
2007: Julie van der Zee; Isabelle Le Ber; Sebastian Maurer-Stroh; Sebastiaan Engelborghs; Ilse Gijselinck; Agnès Camuzat; Nathalie Brouwers; Rik Vandenberghe; Kristel Sleegers; Didier Hannequin; Bart Dermaut; Joost Schymkowitz; Dominique Campion; Patrick Santens; Jean-Jacques Martin; Lucette Lacomblez; Tim De Pooter; Karin Peeters; Maria Mattheijssens; Martine Vercelletto; Marleen Van den Broeck; Marc Cruts; Peter Paul De Deyn; Frederic Rousseau; Alexis Brice; Christine Van Broeckhoven
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
Human mutation 2007;28(4):416.
2007: Anne Grünewald; Guido J Breedveld; Katja Lohmann-Hedrich; Christan F Rohé; Inke R König; Johann Hagenah; Nicola Vanacore; Giuseppe Meco; Angelo Antonini; Stefano Goldwurm; Suzanne Lesage; Alexandra Dürr; Ferdinand Binkofski; Hartwig R Siebner; Alexander Münchau; Alexis Brice; Ben A Oostra; Christine Klein; Vincenzo Bonifati
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics 2007;8(2):103-9.
2007: Stephan Klebe; Arnaud Lacour; Alexandra Durr; Tanya Stojkovic; Christel Depienne; Sylvie Forlani; Sandrine Poea-Guyon; Isabelle Vuillaume; Bernard Sablonniere; Patrick Vermersch; Alexis Brice; Giovanni Stevanin
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
Neurogenetics 2007;8(2):155-7.
2007: Christel Depienne; Estelle Fedirko; Sylvie Forlani; Cécile Cazeneuve; Pascale Ribaï; Imed Feki; C M E Tallaksen; Karine Nguyen; Bruno Stankoff; Merle Ruberg; Giovanni Stevanin; Alexandra Durr; Alexis Brice
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Journal of medical genetics 2007;44(4):281-4.
2007: Morwena Latouche; Christelle Lasbleiz; Elodie Martin; Véronique Monnier; Thomas Debeir; Annick Mouatt-Prigent; Marie-Paule Muriel; Lydie Morel; Merle Ruberg; Alexis Brice; Giovanni Stevanin; Hervé Tricoire
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(10):2483-92.
2007: Suzanne Lesage; Sabine Janin; Ebba Lohmann; Anne-Louise Leutenegger; Laurence Leclere; François Viallet; Pierre Pollak; Franck Durif; Stéphane Thobois; Valérie Layet; Marie Vidailhet; Yves Agid; Alexandra Dürr; Alexis Brice; Anne-Marie Bonnet; Michel Borg; Emmanuel Broussolle; Philippe Damier; Alain Destée; Maria Martinez; Christiane Penet; Olivier Rasco; François Tison; Christine Tranchan; Marc Vérin
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
Archives of neurology 2007;64(3):425-30.
2007: Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naima Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vitor Tedim Cruz; Merle Ruberg; Eric LeGuern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nature genetics 2007;39(3):366-72.
2007: S Lesage; A Dürr; Alexis Brice
LRRK2: a link between familial and sporadic Parkinson's disease?
Pathologie-biologie 2007;55(2):107-10.
2007: Lucie Guyant-Maréchal; Anne Rovelet-Lecrux; L Goumidi; Emmanuelle Cousin; Didier Hannequin; Gregory RAUX; C Penet; Sylvain Ricard; Sandrine Macé; Philippe Amouyel; Jean-François Deleuze; Thierry Frebourg; Alexis Brice; jean-charles lambert; Dominique Campion
Variations in the APP gene promoter region and risk of Alzheimer disease.
Neurology 2007;68(9):684-7.
2007: duong huynh; Dung T Nguyen; Johannes B Pulst-Korenberg; Alexis Brice; Stef pulst
Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death.
Experimental neurology 2007;203(2):531-41.
2007: I Le Ber; O Dubourg; Jean-François Benoist; Claude Jardel; F Mochel; M Koenig; Alexis Brice; Anne Lombès; A Dürr
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Neurology 2007;68(4):295-7.
2007: Suzanne Lesage; Laurence Leclere; Ebba Lohmann; Michel Borg; Merle Ruberg; Alexandra Dürr; Alexis Brice
Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.
Neuro-degenerative diseases 2007;4(2-3):195-8.
2007: Michael Schüpbach; Ebba Lohmann; Mathieu Anheim; Suzanne Lesage; Virginie Czernecki; Sadek Yaici; Yulia Worbe; Perrine Charles; Marie-Laure Welter; Pierre Pollak; Alexandra Dürr; Yves Agid; Alexis Brice
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
Movement disorders : official journal of the Movement Disorder Society 2007;22(1):119-22.
2007: Suzanne Lesage; Periquet Magali; Ebba Lohmann; Lucette Lacomblez; Hélio A G Teive; Sabine Janin; Pierre-Yves Cousin; Alexandra Dürr; Alexis Brice
Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
Human mutation 2007;28(1):27-32.
2006: Nicolas Pineda-Trujillo; Maria Apergi; Sonia Moreno; William Arias; Suzanne Lesage; Alejandro Franco; Diego Sepulveda-Falla; David Cano; Omar Buriticá; David A Pineda; Carlos Santiago Uribe; Justo Garcia de Yebenes; Andrew J Lees; Alexis Brice; Gabriel Bedoya; Francisco Lopera; Andres Ruiz-Linares
A genetic cluster of early onset Parkinson's disease in a Colombian population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(8):885-9.
2006: Isabelle Le Ber; F Clot; Laurent Vercueil; Agnès Camuzat; M Viémont; N Benamar; P De Liège; A M Ouvrard-Hernandez; Pierre Pollak; Giovanni Stevanin; Alexis Brice; Alexandra Dürr
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
Neurology 2006;67(10):1769-73.
2006: Isabelle Le Ber; Eric Guedj; Audrey Gabelle; Patrice Verpillat; Magali Volteau; Catherine Thomas-Anterion; Marielle Decousus; Didier Hannequin; Pierre Véra; Lucette Lacomblez; Agnès Camuzat; Mira Didic; Michèle Puel; Jean-Albert Lotterie; Véronique Golfier; Anne-Marie Bernard; Martine Vercelletto; Christine Magne; François Sellal; Izzie J Namer; Bernard-François Michel; Jacques Pasquier; François Salachas; Jean Bochet; Alexis Brice; Marie-Odile Habert; Bruno Dubois
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.
Brain : a journal of neurology 2006;129(Pt 11):3051-65.
2006: Anne-Louise Leutenegger; Mustafa A Salih; Pablo Ibáñez; Maowia M Mukhtar; Suzanne Lesage; Ali Arabi; Ebba Lohmann; Alexandra Dürr; Ammar E M Ahmed; Alexis Brice
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Archives of neurology 2006;63(9):1257-61.
2006: Lianna Ishihara; Liling Warren; Rachel Gibson; Rim Amouri; Suzanne Lesage; Alexandra Dürr; Meriem Tazir; Zbigniew K Wszolek; Ryan Uitti; William C Nichols; Alida Griffith; Nobutaka Hattori; David Leppert; Ray L Watts; Cyrus Zabetian; Tatiana Foroud; Matthew J Farrer; Alexis Brice; Lefkos T Middleton; Faycal Hentati
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Archives of neurology 2006;63(9):1250-4.
2006: Hamid Azzedine; Nicole Ravisé; Christophe Verny; A Gabrëels-Festen; M Lammens; Djamel Grid; Jean-Michel Vallat; Garry Durosier; Jan Senderek; S Nouioua; Tarik Hamadouche; Ahmed Bouhouche; Angele Guilbot; Claudia Stendel; Merle Ruberg; Alexis Brice; Nazha Birouk; Odile Dubourg; Meriem Tazir; Eric LeGuern
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Neurology 2006;67(4):602-6.
2006: Nadem Soufir; B Gerard; Marc Portela; Alexis Brice; Muriel Liboutet; philippe saiag; Vincent Descamps; Delphine Kerob; Pierre Wolkenstein; Isabelle Gorin; Céleste Lebbe; Nicolas Dupin; Béatrice Crickx; Nicole Basset-Seguin; Bernard Grandchamp
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.
British journal of cancer 2006;95(4):548-53.
2006: Lara Fallon; Catherine M L Bélanger; Amadou T Corera; Maria Kontogiannea; Elsa Regan-Klapisz; France Moreau; Jarno Voortman; Michael Haber; Geneviève Rouleau; Thorhildur Thorarinsdottir; Alexis Brice; Paul M P van Bergen en Henegouwen; Edward A Fon
A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling.
Nature cell biology 2006;8(8):834-42.
2006: Alexandre Janer; Elodie Martin; Marie-Paule Muriel; Morwena Latouche; Hiroto Fujigasaki; Merle Ruberg; Alexis Brice; Yvon Trottier; Annie Sittler
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.
The Journal of cell biology 2006;174(1):65-76.
2006: Cornelia Hampe; Hector Ardila-Osorio; Margot Fournier; Alexis Brice; Olga Corti
Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.
Human molecular genetics 2006;15(13):2059-75.
2006: Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa AD Melone; Alessandra Tessa; M Teresa Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz; José L Loureiro; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho; Alessandro Filla; Alexis Brice; Filippo M Santorelli
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Neurogenetics 2006;7(3):149-56.
2006: Manu Sharma; Jakob C Mueller; Alexander Zimprich; Peter Lichtner; Anne Hofer; Petra Leitner; Sylvia Maass; Daniela Berg; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; B Oostra; Alexis Brice; Nicholas W Wood; Bertram Muller-Myhsok; Thomas Gasser
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Journal of medical genetics 2006;43(7):557-62.
2006: Odile Dubourg; Hamid Azzedine; R Ben Yaou; J Pouget; Annie Barois; Vincent Meininger; D Bouteiller; Merle Ruberg; Alexis Brice; Eric LeGuern
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Neurology 2006;66(11):1721-6.
2006: Pascale Ribai; Giovanni Stevanin; Naima Bouslam; Bénédicte Pontier; Isabelle Nelson; Bertrand Fontaine; Christel Dussert; Céline Charon; Alexandra Durr; Alexis Brice
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
Journal of neurology 2006;253(6):714-9.
2006: Stephan Klebe; Hamid Azzedine; Alexandra Durr; Patrick Bastien; Naima Bouslam; Nizar Elleuch; Sylvie Forlani; Céline Charon; Michel Koenig; Judith Melki; Alexis Brice; Giovanni Stevanin
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
Brain : a journal of neurology 2006;129(Pt 6):1456-62.
2006: Suzanne Lesage; Alexandra Dürr; Alexis Brice
[LRRK2 is a major gene in North African parkinsonism].
Médecine sciences : M/S 2006;22(5):470-1.
2006: Alexander Lossos; Giovanni Stevanin; Vardiella Meiner; Zohar Argov; Naima Bouslam; Joel P Newman; John Moshe Gomori; Stephan Klebe; Israela Lerer; Nizar Elleuch; Shira Silverstein; Alexandra Durr; Oded Abramsky; Ziva Ben-Nariah; Alexis Brice
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Archives of neurology 2006;63(5):756-60.
2006: Michito Namekawa; Isabelle Nelson; Pascale Ribai; Alexandra Dürr; Elodie Denis; Giovanni Stevanin; Merle Ruberg; Alexis Brice
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Neurogenetics 2006;7(2):131-2.
2006: Sophie Tezenas du Montcel; F Clot; Marie Vidailhet; Emmanuel Roze; Philippe Damier; C P Jedynak; Agnès Camuzat; A Lagueny; Laurent Vercueil; Diane Doummar; Lucie Guyant-Maréchal; Jean-Luc Houeto; Gérard Ponsot; Stéphane Thobois; M-A Cournelle; Alexandra Durr; Franck Durif; Bernard Echenne; Didier Hannequin; Christine Tranchant; Alexis Brice
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Journal of medical genetics 2006;43(5):394-400.
2006: Michael F Waters; Natali A Minassian; Giovanni Stevanin; Karla P Figueroa; John P A Bannister; Dagmar Nolte; Allan F Mock; Virgilio Gerald H Evidente; Dominic B Fee; Ulrich Müller; Alexandra Dürr; Alexis Brice; Diane M Papazian; Stef pulst
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Nature genetics 2006;38(4):447-51.
2006: Nizar Elleuch; Christel Depienne; Ali Benomar; A M Ouvrard Hernandez; X Ferrer; Bertrand Fontaine; Djamel Grid; C M E Tallaksen; R Zemmouri; Giovanni Stevanin; Alexandra Durr; Alexis Brice
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Neurology 2006;66(5):654-9.
2006: Paul Unschuld; J Dächsel; Frédéric Darios; Alexander Kohlmann; E Casademunt; K Lehmann-Horn; M Dichgans; Merle Ruberg; Alexis Brice; Thomas Gasser; Christoph B Lücking
Parkin modulates gene expression in control and ceramide-treated PC12 cells.
Molecular biology reports 2006;33(1):13-32.
2006: Anna De Rosa; Giampiero Volpe; Lucia Marcantonio; Lucio Santoro; Alexis Brice; Alessandro Filla; Anna Perretti; Giuseppe De Michele
Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.
Journal of neurology 2006;253(3):275-9.
2006: Pablo Ibáñez; Suzanne Lesage; Ebba Lohmann; Stéphane Thobois; Giuseppe De Michele; Michel Borg; Yves Agid; Alexandra Dürr; Alexis Brice
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Brain : a journal of neurology 2006;129(Pt 3):686-94.
2006: Morwena Latouche; PASCAL FRAGNER; Elodie Martin; Khalid H El Hachimi; Cecilia Zander; Annie Sittler; Merle Ruberg; Alexis Brice; Giovanni Stevanin
Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.
Molecular and cellular neurosciences 2006;31(3):438-45.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
Journal of medical genetics 2006;43(3):259-65.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hs0516.
Human genetics 2006;118(6):785.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: spastic paraparesis. Accession #Hs0515.
Human genetics 2006;118(6):785.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0557.
Human genetics 2006;118(6):783.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0556.
Human genetics 2006;118(6):782.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0555.
Human genetics 2006;118(6):782.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0554.
Human genetics 2006;118(6):782.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hm0553.
Human genetics 2006;118(6):782.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST (SPG4). Disease: Spastic paraparesis. Accession #Hm0552.
Human genetics 2006;118(6):781.
2006: Christel Depienne; C M E Tallaksen; JY Lephay; Bernard Bricka; Sandrine Poea-Guyon; Bertrand Fontaine; P Labauge; Alexis Brice; Alexandra Durr
Gene symbol: SPAST. Disease: Spastic paraparesis. Accession #Hd0519.
Human genetics 2006;118(6):776.
2006: Alexis Brice
[What can we learn from genes responsible for familial forms of Parkinson's disease?].
Bulletin de l'Académie nationale de médecine 2006;190(2):485-96; discussion 497-8.
2006: Isabelle Le Ber; Sophie Rivaud-Péchoux; Alexis Brice; Alexandra Dürr
[Autosomal recessive cerebellar ataxias with oculomotor apraxia].
Revue neurologique 2006;162(2):177-84.
2006: Claudia Cagnoli; Giovanni Stevanin; Chiara Michielotto; Giovanni Gerbino Promis; Alessandro Brussino; Patrizia Pappi; Alexandra Durr; Elisa Dragone; Michelle Viemont; Cinzia Gellera; Alexis Brice; Nicola Migone; Alfredo Brusco
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.
The Journal of molecular diagnostics : JMD 2006;8(1):128-32.
2006: Yoshio Ikeda; Katherine A Dick; Marcy R Weatherspoon; Dan Gincel; Karen R Armbrust; Joline C Dalton; Giovanni Stevanin; Alexandra Dürr; Christine Zühlke; Katrin Bürk; H Brent Clark; Alexis Brice; Jeffrey rothstein; Lawrence J Schut; John W Day; Laura P W Ranum
Spectrin mutations cause spinocerebellar ataxia type 5.
Nature genetics 2006;38(2):184-90.
2006: Suzanne Lesage; Alexandra Dürr; Meriem Tazir; Ebba Lohmann; Anne-Louise Leutenegger; Sabine Janin; Pierre Pollak; Alexis Brice
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.
The New England journal of medicine 2006;354(4):422-3.
2006: Michito Namekawa; Pascale Ribai; Isabelle Nelson; Sylvie Forlani; F Fellmann; Cyril Goizet; Christel Depienne; Giovanni Stevanin; Merle Ruberg; Alexandra Dürr; Alexis Brice
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
Neurology 2006;66(1):112-4.
2006: Odile Dubourg; Hamid Azzedine; Christophe Verny; Garry Durosier; Nazha Birouk; Riadh Gouider; Mustafa A Salih; Ahmed Bouhouche; A Thiam; Djamel Grid; M Mayer; Merle Ruberg; Meriem Tazir; Alexis Brice; Eric LeGuern
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Neuromolecular medicine 2006;8(1-2):75-86.
2006: Anne Rovelet-Lecrux; Didier Hannequin; Gregory RAUX; Nathalie Le Meur; Annie Laquerrière; Anne Vital; Cécile Dumanchin; Sébastien Feuillette; Alexis Brice; Martine Vercelletto; Frédéric Dubas; Thierry Frebourg; Dominique Campion
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Nature genetics 2006;38(1):24-6.
2005: Suzanne Lesage; Anne-Louise Leutenegger; Alexis Brice
[LRRK2: a gene belonging to the ROCO family is implicated in the Parkinson's disease].
Médecine sciences : M/S 2005;21(12):1015-7.
2005: Alexis Brice
Genetics of Parkinson's disease: LRRK2 on the rise.
Brain : a journal of neurology 2005;128(Pt 12):2760-2.
2005: Magali Periquet; Olga Corti; Sandrine Jacquier; Alexis Brice
Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function.
Journal of neurochemistry 2005;95(5):1259-76.
2005: Suzanne Lesage; Pablo Ibanez; Ebba Lohmann; Pierre Pollak; François Tison; Meriem Tazir; Anne-Louise Leutenegger; Joao Guimaraes; Anne-Marie Bonnet; Yves Agid; Alexandra Dürr; Alexis Brice
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Annals of neurology 2005;58(5):784-7.
2005: Stephan Klebe; Alexandra Durr; Alexander Rentschler; Valerie Hahn-Barma; Michael Abele; Naima Bouslam; Ludger Schöls; Pierre Jedynak; Sylvie Forlani; Elodie Denis; Christel Dussert; Yves Agid; Peter Bauer; Christoph Globas; Ullrich Wüllner; Alexis Brice; Olaf Riess; Giovanni Stevanin
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Annals of neurology 2005;58(5):720-9.
2005: Gregory RAUX; Lucie Guyant-Maréchal; Cosette Martin; Jacqueline Bou; C Penet; Alexis Brice; Didier Hannequin; Thierry Frebourg; Dominique Campion
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
Journal of medical genetics 2005;42(10):793-5.
2005: Isabelle Le Ber; Alexis Brice; Alexandra Dürr
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Current neurology and neuroscience reports 2005;5(5):411-7.
2005: Suzanne Lesage; Anne-Louise Leutenegger; Pablo Ibanez; Sabine Janin; Ebba Lohmann; Alexandra Dürr; Alexis Brice
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century.
American journal of human genetics 2005;77(2):330-2.
2005: J C Dächsel; Christoph B Lücking; S Deeg; E Schultz; Maciej Lalowski; E Casademunt; Olga Corti; C Hampe; N Patenge; K Vaupel; A Yamamoto; M Dichgans; Alexis Brice; Erich E Wanker; Philipp J Kahle; Thomas Gasser
Parkin interacts with the proteasome subunit alpha4.
FEBS letters 2005;579(18):3913-9.
2005: Mourad Naïmi; Sandrine Tardieu; Christel Depienne; Merle Ruberg; Alexis Brice; Odile Dubourg; Eric LeGuern
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.
American journal of medical genetics. Part A 2005;136(2):136-9.
2005: Maria Martinez; Alexis Brice; Jenny R Vaughan; Alexander Zimprich; Monique Breteler; Giuseppe Meco; Alessandro Filla; Matthew J Farrer; Christine Bétard; Andrew Singleton; John Hardy; Giuseppe De Michele; Vincenzo Bonifati; Ben A Oostra; Thomas Gasser; Nicholas W Wood; Alexandra Dürr
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;136B(1):72-4.
2005: Valérie Biancalana; Mathias Toft; Isabelle Le Ber; François Tison; Elisabeth Scherrer; Stephen Thibodeau; Jean-Louis Mandel; Alexis Brice; Matthew J Farrer; Alexandra Dürr
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
Archives of neurology 2005;62(6):962-6.
2005: Yasuhiko Baba; Yoshio Tsuboi; Matthew C Baker; Ryan Uitti; Michael Hutton; dennis dickson; Matthew J Farrer; John D Putzke; Bryan Woodruff; Bernardino Ghetti; Jill R Murrell; Bradley Boeve; Ronald C. Petersen; Patrice Verpillat; Alexis Brice; Marie-Bernadette Delisle; Olivier Rascol; Kunimasa Arima; Maurice W Dysken; Minoru Yasuda; Tomonori Kobayashi; Nobuhiko Sunohara; Osamu Komure; Sadako Kuno; Anne D Sperfeld; Gabriela Stoppe; Juergen Kohlhase; Stuart Pickering-Brown; David Neary; Orso Bugiani; Zbigniew K Wszolek
The effect of tau genotype on clinical features in FTDP-17.
Parkinsonism & related disorders 2005;11(4):205-8.
2005: Frédéric Darios; Marie-Paule Muriel; Myriam Escobar Khondiker; Alexis Brice; Merle Ruberg
Neurotoxic calcium transfer from endoplasmic reticulum to mitochondria is regulated by cyclin-dependent kinase 5-dependent phosphorylation of tau.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(16):4159-68.
2005: Naima Bouslam; Ali Benomar; Hamid Azzedine; Ahmed Bouhouche; Michito Namekawa; Stephan Klebe; Céline Charon; Alexandra Durr; Merle Ruberg; Alexis Brice; Mohamed Yahyaoui; Giovanni Stevanin
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Annals of neurology 2005;57(4):567-71.
2005: Bart P C van de Warrenburg; Harrie Hendriks; Alexandra Dürr; Martin C A van Zuijlen; Giovanni Stevanin; Agnès Camuzat; Richard J Sinke; Alexis Brice; Berry Kremer
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.
Annals of neurology 2005;57(4):505-12.
2005: emilie colin; Etienne Régulier; Valérie Perrin; Alexandra Dürr; Alexis Brice; Patrick Aebischer; Nicole Deglon; Sandrine Humbert; Frédéric Saudou
Akt is altered in an animal model of Huntington's disease and in patients.
The European journal of neuroscience 2005;21(6):1478-88.
2005: François Ochsner; Isabelle Le Ber; G Said; Maria-Ceù Moreira; P Michel; Michel Koenig; Alexandra Dürr; Alexis Brice; Thierry Kuntzer
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].
Revue neurologique 2005;161(3):331-6.
2005: Olga Corti; Cornelia Hampe; Frédéric Darios; Pablo Ibanez; Merle Ruberg; Alexis Brice
Parkinson's disease: from causes to mechanisms.
Comptes rendus biologies 2005;328(2):131-42.
2005: Sandrine Macé; Emmanuelle Cousin; Sylvain Ricard; Emmanuelle Génin; Emmanuel Spanakis; Carole Lafargue-Soubigou; Bérengère Génin; Raphaël Fournel; Sandrine Roche; Gilles Haussy; Florence Massey; Stéphane Soubigou; Georges Bréfort; Patrick Benoit; Alexis Brice; Dominique Campion; Melvyn Hollis; Laurent Pradier; Jesus Benavides; Jean-François Deleuze
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease.
Neurobiology of disease 2005;18(1):119-25.
2005: Jürgen Prestel; Manu Sharma; Petra Leitner; Alexander Zimprich; Jenny R Vaughan; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; Hasmet Hanagasi; Matthew J Farrer; Anne Hofer; Friedrich Asmus; Giampiero Volpe; Giuseppe Meco; Alexis Brice; Nicholas W Wood; Bertram Müller-Myhsok; Thomas Gasser
PARK11 is not linked with Parkinson's disease in European families.
European journal of human genetics : EJHG 2005;13(2):193-7.
2005: Alexis Brice
How much does dardarin contribute to Parkinson's disease?
Lancet 2005;365(9457):363-4.
2005: Giovanni Stevanin; Emmanuel Broussolle; Nathalie Streichenberger; Nicolas Kopp; Alexis Brice; Alexandra Durr
Spinocerebellar ataxia with sensory neuropathy (SCA25).
Cerebellum (London, England) 2005;4(1):58-61.
2005: Giovanni Stevanin; Alexandra Durr; Nawal Benammar; Alexis Brice
Spinocerebellar ataxia with mental retardation (SCA13).
Cerebellum (London, England) 2005;4(1):43-6.
2004: Andrea Varrone; Maria Teresa Pellecchia; Marianna Amboni; Valeria Sansone; Elena Salvatore; Daniele Ghezzi; Barbara Garavaglia; Alexis Brice; Arturo Brunetti; Vincenzo Bonavita; Giuseppe De Michele; Marco Salvatore; Sabina Pappatà; Paolo Barone
Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease.
Neurology 2004;63(11):2097-103.
2004: Christophe Lo Bianco; Bernard L Schneider; Matthias Bauer; Ali Sajadi; Alexis Brice; Takeshi Iwatsubo; Patrick Aebischer
Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(50):17510-5.
2004: Alexandra Dürr; Agnès Camuzat; emilie colin; C M E Tallaksen; Didier Hannequin; Paula Coutinho; Bertrand Fontaine; Annick Rossi; Roger Gil; Christophe Rousselle; Merle Ruberg; Giovanni Stevanin; Alexis Brice
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Archives of neurology 2004;61(12):1867-72.
2004: Maria Martinez; Alexis Brice; Jenny R Vaughan; Alexander Zimprich; Monique Breteler; Giuseppe Meco; Alessandro Filla; Matthew J Farrer; Christine Bétard; John Hardy; Giuseppe De Michele; Vincenzo Bonifati; Ben A Oostra; Thomas Gasser; Nicholas W Wood; Alexandra Dürr
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Journal of medical genetics 2004;41(12):900-7.
2004: Annette Abel; Nuria Fonknechten; Anne Hofer; Alexandra Dürr; Corinne Cruaud; Thomas Voit; Jean Weissenbach; Alexis Brice; Sven Klimpe; Georg Auburger; Jamilé Hazan
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Neurogenetics 2004;5(4):239-43.
2004: Christophe Verny; Nicole Ravisé; Anne-Louise Leutenegger; F Pouplard; Odile Dubourg; Sandrine Tardieu; Frédéric Dubas; Alexis Brice; Emmanuelle Genin; Eric LeGuern
Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Neurology 2004;63(8):1527-9.
2004: Annick Mouatt-Prigent; Marie-Paule Muriel; Wen-Jie Gu; Khalid H El Hachimi; Christoph B Lücking; Alexis Brice; Etienne C Hirsch
Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia.
Journal of neural transmission (Vienna, Austria : 1996) 2004;111(10-11):1209-18.
2004: Pablo Ibáñez; Anne-Marie Bonnet; B Débarges; Ebba Lohmann; François Tison; Pierre Pollak; Yves Agid; Alexandra Dürr; Alexis Brice
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Lancet 2004;364(9440):1169-71.
2004: Giovanni Stevanin; Alexandra Durr; Christel Dussert; C Penet; Alexis Brice
Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians.
Neurology 2004;63(5):936.
2004: Giovanni Stevanin; Valérie Hahn; Ebba Lohmann; Naima Bouslam; Michel Gouttard; Caroline Soumphonphakdy; Marie-Laure Welter; Elisabeth Ollagnon-Roman; Arnaud Lemainque; Merle Ruberg; Alexis Brice; Alexandra Durr
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
Archives of neurology 2004;61(8):1242-8.
2004: Danielle Seilhean; Junko Takahashi; Khalid H El Hachimi; Hiroto Fujigasaki; Anne-Sophie Lebre; Valérie Biancalana; Alexandra Dürr; François Salachas; Jean Hogenhuis; Hugues de Thé; JEAN-JACQUES HAUW; Vincent Meininger; Alexis Brice; Charles Duyckaerts
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.
Acta neuropathologica 2004;108(1):81-7.
2004: Pablo Ibáñez; Ebba Lohmann; Pierre Pollak; Franck Durif; Christine Tranchant; Yves Agid; Alexandra Dürr; Alexis Brice
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease.
Neurology 2004;62(11):2133-4.
2004: Isabelle Gourfinkel-An; Stéphanie Baulac; Rima Nabbout; Alexis Brice; Michel Baulac; Eric LeGuern
[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions].
Revue neurologique 2004;160(5 Pt 2):S90-7.
2004: Isabelle Gourfinkel-An; Stéphanie Baulac; Rima Nabbout; Merle Ruberg; Michel Baulac; Alexis Brice; Eric LeGuern
Monogenic idiopathic epilepsies.
Lancet neurology 2004;3(4):209-18.
2004: Isabelle Le Ber; Naima Bouslam; Sophie Rivaud-Péchoux; João Guimarães; Ali Benomar; Céline Chamayou; Cyril Goizet; Maria-Ceù Moreira; Sandra Klur; Mohamed Yahyaoui; Yves Agid; Michel Koenig; Giovanni Stevanin; Alexis Brice; Alexandra Dürr
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Brain : a journal of neurology 2004;127(Pt 4):759-67.
2004: Maria-Céu Moreira; Sandra Klur; Mitsunori Watanabe; Andrea H Németh; Isabelle Le Ber; José-Carlos Moniz; Christine Tranchant; Patrick Aubourg; Meriem Tazir; Lüdger Schöls; Massimo Pandolfo; Jörg B Schulz; Jean Pouget; Patrick Calvas; Masami Shizuka-Ikeda; Mikio Shoji; Makoto Tanaka; Louise Izatt; Christopher Shaw; Abderrahim M'Zahem; Eimear Dunne; Pascale Bomont; Traki Benhassine; Naïma Bouslam; Giovanni Stevanin; Alexis Brice; João Guimarães; Pedro Mendonça; Clara Barbot; Paula Coutinho; Jorge Sequeiros; Alexandra Dürr; Jean-Marie Warter; Michel Koenig
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nature genetics 2004;36(3):225-7.
2004: T B Zagorovskaia; Sergei N Illarioshkin; P A Slominskiĭ; Irina Ivanova-Smolenskaia; Elena D Markova; SA Limborskaia; O S Levin; Olga V Miloserdova; T N Proskokova; B Kh Bagyeva; Alexis Brice
[Clinical and genetic analysis of juvenile parkinsonism in Russia].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinskoĭ promyshlennosti Rossiĭskoĭ Federatsii, Vserossiĭskoe obshchestvo nevrologov [i] Vserossiĭskoe obshchestvo psikhiatrov 2004;104(8):66-72.
2004: Giovanni Stevanin; Naima Bouslam; Stéphane Thobois; Hamid Azzedine; Lucas Ravaux; Anne Boland; Martin Schalling; Emmanuel Broussolle; Alexandra Dürr; Alexis Brice
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
Annals of neurology 2004;55(1):97-104.
2003: Emmanuelle Cousin; Didier Hannequin; Sandrine Macé; Bruno Dubois; Sylvain Ricard; Emmanuelle Génin; Christophe Brun; Céline Chansac; Laurent Pradier; Thierry Frebourg; Alexis Brice; Dominique Campion; Jean-François Deleuze
No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.
Neuroscience letters 2003;353(2):153-5.
2003: Wen-Jie Gu; Olga Corti; Francisco Araujo; Cornelia Hampe; Sandrine Jacquier; Christoph B Lücking; Nacer Abbas; Charles Duyckaerts; Thomas Rooney; Laurent Pradier; Merle Ruberg; Alexis Brice
The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates.
Neurobiology of disease 2003;14(3):357-64.
2003: Isabelle Le Ber; Maria-Ceù Moreira; Sophie Rivaud-Péchoux; Céline Chamayou; François Ochsner; Thierry Kuntzer; Marc Tardieu; Gérard Saïd; Marie-Odile Habert; Geneviève Demarquay; Christian Tannier; Jean-Marie Beis; Alexis Brice; Michel Koenig; Alexandra Dürr
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Brain : a journal of neurology 2003;126(Pt 12):2761-72.
2003: Pablo Ibáñez; Giuseppe De Michele; Vincenzo Bonifati; Ebba Lohmann; Stéphane Thobois; Pierre Pollak; Yves Agid; Peter Heutink; Alexandra Dürr; Alexis Brice
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
Neurology 2003;61(10):1429-31.
2003: Dirk Sibbing; Friedrich Asmus; Inke R König; Sophie Tezenas du Montcel; Marie Vidailhet; S Sangla; Wolfgang H Oertel; Alexis Brice; Andreas Ziegler; Thomas Gasser; Oliver Bandmann
Candidate gene studies in focal dystonia.
Neurology 2003;61(8):1097-101.
2003: Rima Nabbout; A Kozlovski; Elena Gennaro; Nadia Bahi-Buisson; Federico Zara; Catherine Chiron; A Bianchi; Alexis Brice; Eric LeGuern; Olivier Dulac
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
Epilepsy research 2003;56(2-3):127-33.
2003: Vincenzo Bonifati; Patrizia Rizzu; Ferdinando Squitieri; Elmar Krieger; Nicola Vanacore; John C van Swieten; Alexis Brice; C.M. Duijn; Ben A Oostra; Giuseppe Meco; Peter Heutink
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2003;24(3):159-60.
2003: Jean-Michel Itier; Pablo Ibanez; Maria Angeles Mena; Nacer Abbas; Charles Cohen-Salmon; Georg Andrees Bohme; Michel Laville; Jeremy Pratt; Olga Corti; Laurent Pradier; Gwenaëlle Ret; Chantal Joubert; Magali Periquet; Francisco Araujo; Julia Negroni; Maria José Casarejos; Santiago Canals; Rosa Maria Solano; Alba Serrano; Eva Gallego; Marina Sanchez; Patrice DENEFLE; Jesus Benavides; Günter Tremp; Thomas Rooney; Alexis Brice; Justo Garcia de Yebenes
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.
Human molecular genetics 2003;12(18):2277-91.
2003: Christoph B Lücking; Véronique Chesneau; Ebba Lohmann; Patrice Verpillat; Cyprien Dulac; Anne-Marie Bonnet; Francesca Gasparini; Yves Agid; Alexandra Dürr; Alexis Brice
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Archives of neurology 2003;60(9):1253-6.
2003: Isabelle Gourfinkel-An; Karine Parain; Andreas Hartmann; L Mangiarini; Alexis Brice; Gillian P Bates; Etienne C Hirsch
Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice.
Journal of neurochemistry 2003;86(6):1369-78.
2003: C M E Tallaksen; Elodie Guichart-Gomez; Patrice Verpillat; Valerie Hahn-Barma; Merle Ruberg; Bertrand Fontaine; Alexis Brice; Bruno Dubois; Alexandra Durr
Subtle cognitive impairment but no dementia in patients with spastin mutations.
Archives of neurology 2003;60(8):1113-8.
2003: Isabelle Le Ber; Agnès Camuzat; Giovanni Castelnovo; Jean-Philippe Azulay; Pierre Genton; Jean-Louis Gastaut; Dominique Broglin; Pierre Labauge; Alexis Brice; Alexandra Durr
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.
Archives of neurology 2003;60(8):1097-9.
2003: Junko Takahashi; Hiroto Fujigasaki; Kiyoshi Iwabuchi; Amalia C Bruni; Toshiki Uchihara; Khalid H El Hachimi; Giovanni Stevanin; Alexandra Dürr; Anne-Sophie Lebre; Yvon Trottier; Hugues de Thé; Junichi Tanaka; JEAN-JACQUES HAUW; Charles Duyckaerts; Alexis Brice
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Neurobiology of disease 2003;13(3):230-7.
2003: Ebba Lohmann; Magali Periquet; Vincenzo Bonifati; Nicholas W Wood; Giuseppe De Michele; Anne-Marie Bonnet; Valérie Fraix; Emmanuel Broussolle; Martin Horstink; Marie Vidailhet; Patrice Verpillat; Thomas Gasser; David Nicholl; Hélio A G Teive; Salmo Raskin; Olivier Rascol; Alain Destée; Merle Ruberg; Francesca Gasparini; Giuseppe Meco; Yves Agid; Alexandra Durr; Alexis Brice
How much phenotypic variation can be attributed to parkin genotype?
Annals of neurology 2003;54(2):176-85.
2003: Sergei N Illarioshkin; Magali Periquet; Nina Rawal; Christoph B Lücking; Tatyana B Zagorovskaya; Petr Slominsky; Olga V Miloserdova; Elena D Markova; Svetlana A Limborska; Irina A Ivanova-Smolenskaya; Alexis Brice
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2003;18(8):914-9.
2003: Giovanni Stevanin; Hiroto Fujigasaki; Anne-Sophie Lebre; Agnès Camuzat; Cecile Jeannequin; Catherine Dode; Junko Takahashi; Chankranira San; Robert Bellance; Alexis Brice; Alexandra Durr
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
Brain : a journal of neurology 2003;126(Pt 7):1599-603.
2003: Olga Corti; Cornelia Hampe; Hana Koutnikova; Frédéric Darios; Sandrine Jacquier; Annick Prigent; Jean-Charles Robinson; Laurent Pradier; Merle Ruberg; Marc Mirande; Etienne C Hirsch; Thomas Rooney; Alain Fournier; Alexis Brice
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.
Human molecular genetics 2003;12(12):1427-37.
2003: Magali Periquet; Morwena Latouche; Ebba Lohmann; Nina Rawal; Giuseppe De Michele; Sylvain Ricard; Hélio A G Teive; Valérie Fraix; Marie Vidailhet; David Nicholl; Paolo Barone; Nicholas W Wood; Salmo Raskin; Jean-François Deleuze; Yves Agid; Alexandra Dürr; Alexis Brice
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Brain : a journal of neurology 2003;126(Pt 6):1271-8.
2003: Emmanuelle Cousin; Didier Hannequin; Sylvain Ricard; Sandrine Macé; Emmanuelle Génin; Céline Chansac; Alexis Brice; Bruno Dubois; Thierry Frebourg; Luc Mercken; Jesus Benavides; Laurent Pradier; Dominique Campion; Jean-François Deleuze
A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism.
Neuroscience letters 2003;342(1-2):5-8.
2003: Hamid Azzedine; Merle Ruberg; D Ente; C Gilardeau; S Périé; B Wechsler; Alexis Brice; Eric LeGuern; Odile Dubourg
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Neuromuscular disorders : NMD 2003;13(4):341-6.
2003: Olga Corti; Alexis Brice
[Parkinson's disease: what have we learned from the genes responsible for familial forms?].
Médecine sciences : M/S 2003;19(5):613-9.
2003: Stéphane Thobois; Maria-João Ribeiro; Ebba Lohmann; Alexandra Dürr; Pierre Pollak; Olivier Rascol; Stephane Guillouet; Elizabeth Chapoy; Nicolas Costes; Yves Agid; Philippe Remy; Alexis Brice; Emmanuel Broussolle
Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study.
Archives of neurology 2003;60(5):713-8.
2003: Hamid Azzedine; Alessandra Bolino; T Taïeb; Nazha Birouk; Marco Di Duca; Ahmed Bouhouche; S Benamou; Amel Mrabet; Tarik Hammadouche; Taïeb Chkili; Riadh Gouider; Roberto Ravazzolo; Alexis Brice; Jocelyn Laporte; Eric LeGuern
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
American journal of human genetics 2003;72(5):1141-53.
2003: Nina Rawal; Magali Periquet; Ebba Lohmann; Christoph B Lücking; Hélio A G Teive; G Ambrosio; Salmo Raskin; Sarah J Lincoln; Nobutaka Hattori; Joao Guimaraes; Martin Horstink; W Dos Santos Bele; E Brousolle; Alain Destée; Yoshikuni Mizuno; Matthew J Farrer; Jean-François Deleuze; Giuseppe De Michele; Yves Agid; Alexandra Dürr; Alexis Brice
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Neurology 2003;60(8):1378-81.
2003: Nazha Birouk; Hamid Azzedine; Odile Dubourg; Marie-Paule Muriel; Ali Benomar; Tarik Hamadouche; Thierry Maisonobe; Reda Ouazzani; Alexis Brice; Mohamed Yahyaoui; Taïeb Chkili; Eric Le Guern
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Archives of neurology 2003;60(4):598-604.
2003: Nicole Ravisé; Odile Dubourg; Sandrine Tardieu; Françoise Aurias; Monique Mercadiel; Philippe Coullin; Merle Ruberg; Martin Catala; Sylvie Lesourd; Alexis Brice; Eric LeGuern
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.
American journal of medical genetics. Part A 2003;118A(1):43-8.
2003: Frédéric Darios; Olga Corti; Christoph B Lücking; Cornelia Hampe; Marie-Paule Muriel; Nacer Abbas; Wen-Jie Gu; Etienne C Hirsch; Thomas Rooney; Merle Ruberg; Alexis Brice
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.
Human molecular genetics 2003;12(5):517-26.
2003: Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W F van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; C.M. Duijn; Ben A Oostra; Peter Heutink
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) 2003;299(5604):256-9.
2003: A-S Lebre; Alexis Brice
Spinocerebellar ataxia 7 (SCA7).
Cytogenetic and genome research 2003;100(1-4):154-63.
2003: Christoph B Lücking; Alexis Brice
Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene.
Methods in molecular biology (Clifton, N.J.) 2003;217():13-26.
2002: Sergei N Illarioshkin; R A Rakhmonov; Irina Ivanova-Smolenskaia; Alexis Brice; Elena D Markova; NI Miklina; SA Kliushnikov; SA Limborskaia
[Molecular genetic analysis of essential tremor].
Genetika 2002;38(12):1704-9.
2002: Patrice Verpillat; Sylvain Ricard; Didier Hannequin; Bruno Dubois; Jacqueline Bou; Agnès Camuzat; Laurent Pradier; Thierry Frebourg; Alexis Brice; Françoise Clerget-Darpoux; Jean-François Deleuze; Dominique Campion
Is the saitohin gene involved in neurodegenerative diseases?
Annals of neurology 2002;52(6):829-32.
2002: Rima Nabbout; Jean-François Prud'homme; Alexandra Herman; JOSUE FEINGOLD; Alexis Brice; Olivier Dulac; Eric LeGuern
A locus for simple pure febrile seizures maps to chromosome 6q22-q24.
Brain : a journal of neurology 2002;125(Pt 12):2668-80.
2002: Friedrich Asmus; Alexander Zimprich; Sophie Tezenas du Montcel; Christian Kabus; Günther Deuschl; Andreas Kupsch; Ulf Ziemann; Mirna Castro; Andrea A Kühn; Tim M Strom; Marie Vidailhet; Kailash P Bhatia; Alexandra Dürr; Nicholas W Wood; Alexis Brice; Thomas Gasser
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Annals of neurology 2002;52(4):489-92.
2002: Peter T Lansbury; Alexis Brice
Genetics of Parkinson's disease and biochemical studies of implicated gene products.
Current opinion in cell biology 2002;14(5):653-60.
2002: Enza Maria Valente; Francesco Brancati; Viviana Caputo; E A Graham; Mary B Davis; Alessandro Ferraris; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6 is a common cause of familial parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S117-8.
2002: Mekki Boussaha; Didier Hannequin; Patrice Verpillat; Alexis Brice; Thierry Frebourg; Dominique Campion
Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease.
Neuroscience letters 2002;329(1):121-3.
2002: Nina Rawal; Magali Periquet; Alexandra Dürr; Giuseppe De Michele; Vincenzo Bonifati; Hélio A G Teive; Salmo Raskin; Joao Guimaraes; Yves Agid; Alexis Brice
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
Journal of neurology 2002;249(8):1127-9.
2002: Andrew West; Magali Periquet; Sarah J Lincoln; Christoph B Lücking; David Nicholl; Vincenzo Bonifati; Nina Rawal; Thomas Gasser; Ebba Lohmann; Jean-François Deleuze; Demetrius M Maraganore; Allan Levey; Nicholas W Wood; Alexandra Dürr; John Hardy; Alexis Brice; Matthew J Farrer
Complex relationship between Parkin mutations and Parkinson disease.
American journal of medical genetics 2002;114(5):584-91.
2002: Ebba Lohmann; Alexandra Durr; Alexis Brice
[Current data on the genetic of Parkinson disease].
Revue neurologique 2002;158(6-7):763-6.
2002: Claire Borie; Francesca Gasparini; Patrice Verpillat; Anne-Marie Bonnet; Yves Agid; Gilles Hetet; Alexis Brice; Alexandra Dürr; Bernard Grandchamp
Association study between iron-related genes polymorphisms and Parkinson's disease.
Journal of neurology 2002;249(7):801-4.
2002: Patrice Verpillat; Agnès Camuzat; Didier Hannequin; Catherine Thomas-Anterion; Michèle Puel; Serge Belliard; Bruno Dubois; Mira Didic; Lucette Lacomblez; Olivier Moreaud; Véronique Golfier; Dominique Campion; Alexis Brice; Françoise Clerget-Darpoux
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.
European journal of human genetics : EJHG 2002;10(7):399-405.
2002: Junko Takahashi; Hiroto Fujigasaki; Cecilia Zander; Khalid H El Hachimi; Giovanni Stevanin; Alexandra Dürr; Anne-Sophie Lebre; Gaël Yvert; Yvon Trottier; Hugues de Thé; JEAN-JACQUES HAUW; Charles Duyckaerts; Alexis Brice
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.
Brain : a journal of neurology 2002;125(Pt 7):1534-43.
2002: Tomas S Aleman; Artur Vahe Cideciyan; Nicholas J Volpe; Giovanni Stevanin; Alexis Brice; Samuel G Jacobson
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
Experimental eye research 2002;74(6):737-45.
2002: Peter T Lansbury; Alexis Brice
Genetics of Parkinson's disease and biochemical studies of implicated gene products.
Current opinion in genetics & development 2002;12(3):299-306.
2002: Patrice Verpillat; Agnès Camuzat; Didier Hannequin; Catherine Thomas-Anterion; Michèle Puel; Serge Belliard; Bruno Dubois; Mira Didic; Bernard-François Michel; Lucette Lacomblez; Olivier Moreaud; François Sellal; Véronique Golfier; Dominique Campion; Françoise Clerget-Darpoux; Alexis Brice
Association between the extended tau haplotype and frontotemporal dementia.
Archives of neurology 2002;59(6):935-9.
2002: Jens Jacob Hansen; Alexandra Dürr; Isabelle Cournu-Rebeix; Costa Georgopoulos; Debbie Ang; Marit Nyholm Nielsen; Claire-Sophie Davoine; Alexis Brice; Bertrand Fontaine; Niels Gregersen; Peter Bross
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
American journal of human genetics 2002;70(5):1328-32.
2002: Dominique Caparros-Lefebvre; Nicolas Sergeant; Andrew J Lees; Agnès Camuzat; Susan E Daniel; Annie Lannuzel; Alexis Brice; Eduardo Tolosa; André Delacourte; Charles Duyckaerts
Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy.
Brain : a journal of neurology 2002;125(Pt 4):801-11.
2002: Giovanni Stevanin; Agnès Camuzat; Susan E Holmes; C Julien; R Sahloul; Catherine Dodé; Valerie Hahn-Barma; Christopher A Ross; Russell L Margolis; Alexandra Durr; Alexis Brice
CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
Neurology 2002;58(6):965-7.
2002: Pierre Labauge; L O Amer; Marion Simonetta-Moreau; F Attané; C Tannier; Michel Clanet; Giovanni Castelnovo; I An-Gourfinkel; Yves Agid; Alexis Brice; Anne Ducros; Eric LeGuern
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).
Neurology 2002;58(6):941-4.
2002: Anne Philippe; Michel Guilloud-Bataille; Maria Martinez; Christopher Gillberg; Maria Råstam; Eili Sponheim; Mary Coleman; Michele Zappella; Harald Aschauer; Christiane Penet; JOSUE FEINGOLD; Alexis Brice; Marion Leboyer
Analysis of ten candidate genes in autism by association and linkage.
American journal of medical genetics 2002;114(2):125-8.
2002: Hiroto Fujigasaki; Sandrine Tardieu; Agnès Camuzat; Giovanni Stevanin; Eric LeGuern; Tohru Matsuura; Tetsuo Ashizawa; Alexandra Dürr; Alexis Brice
Spinocerebellar ataxia type 10 in the French population.
Annals of neurology 2002;51(3):408-9.
2002: Martin Horstink; Bart P C van de Warrenburg; Martin Lammens; Alexis Brice
Parkin gene related neuronal multisystem disorder.
Journal of neurology, neurosurgery, and psychiatry 2002;72(3):419-20.
2002: Isabelle Gourfinkel-An; Miquel Vila; Baptiste A Faucheux; Charles Duyckaerts; François Viallet; JEAN-JACQUES HAUW; Alexis Brice; Yves Agid; Etienne C Hirsch
Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNA.
Journal of neurochemistry 2002;80(3):466-76.
2002: M L Jacquemont; Dominique Campion; Valérie Hahn; C M E Tallaksen; Thierry Frebourg; Alexis Brice; Alexandra Durr
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
Journal of medical genetics 2002;39(2):E2.
2002: Giovanni Stevanin; Alexandra Dürr; Alexis Brice
Spinocerebellar ataxias caused by polyglutamine expansions.
Advances in experimental medicine and biology 2002;516():47-77.
2002: Olga Corti; Alexis Brice
[Parkin, alpha-synuclein and other molecular aspects of Parkinson's disease].
Journal de la Société de biologie 2002;196(1):95-10.
2002: Enza Maria Valente; Francesco Brancati; Alessandro Ferraris; Elizabeth A Graham; Mary B Davis; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Dietmar Wassilowsky; Biswadjiet S Harhangi; Nina Rawal; Viviana Caputo; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
2001: Susan E Holmes; Elizabeth O'Hearn; Adam Rosenblatt; Colleen Callahan; HS Hwang; R G Ingersoll-Ashworth; A Fleisher; Giovanni Stevanin; Alexis Brice; Nicholas T Potter; Christopher A Ross; Russell L Margolis
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
Nature genetics 2001;29(4):377-8.
2001: Cecilia Zander; Junko Takahashi; Khalid H El Hachimi; Hiroto Fujigasaki; V Albanese; Anne-Sophie Lebre; Giovanni Stevanin; Charles Duyckaerts; Alexis Brice
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.
Human molecular genetics 2001;10(22):2569-79.
2001: Odile Dubourg; Sandrine Tardieu; Nazha Birouk; Riadh Gouider; Jean-Marc Léger; Thierry Maisonobe; Alexis Brice; Pierre Bouche; Eric LeGuern
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2001;124(Pt 10):1958-67.
2001: Hiroto Fujigasaki; J J Martin; P P De Deyn; Agnès Camuzat; D Deffond; Giovanni Stevanin; Bart Dermaut; Christine Van Broeckhoven; Alexandra Dürr; Alexis Brice
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
Brain : a journal of neurology 2001;124(Pt 10):1939-47.
2001: Vincenzo Bonifati; Christoph B Lücking; Edito Fabrizio; Magali Periquet; Giuseppe Meco; Alexis Brice
Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism.
Journal of neurology, neurosurgery, and psychiatry 2001;71(4):531-4.
2001: Christoph B Lücking; Vincenzo Bonifati; Magali Periquet; Nicola Vanacore; Alexis Brice; Giuseppe Meco
Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations.
Neurology 2001;57(5):924-7.
2001: O Corti; Alexis Brice
Parkin and Parkinson's: more than homonymy?
Annals of neurology 2001;50(3):283-5.
2001: C M E Tallaksen; Alexandra Dürr; Alexis Brice
Recent advances in hereditary spastic paraplegia.
Current opinion in neurology 2001;14(4):457-63.
2001: Odile Dubourg; Sandrine Tardieu; Nazha Birouk; Riadh Gouider; Jean-Marc Léger; Thierry Maisonobe; Alexis Brice; Pierre Bouche; Eric LeGuern
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
Neuromuscular disorders : NMD 2001;11(5):458-63.
2001: Patrice Verpillat; S Bouley; Dominique Campion; Didier Hannequin; Bruno Dubois; Serge Belliard; Michèle Puel; Catherine Thomas-Antérion; Yves Agid; Alexis Brice; Françoise Clerget-Darpoux
Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population.
European journal of human genetics : EJHG 2001;9(6):464-8.
2001: Stéphanie Baulac; Fabienne Picard; A Herman; JOSUE FEINGOLD; Emmanuelle Genin; Etienne C Hirsch; Jean-F Prud'homme; Michel Baulac; Alexis Brice; Eric LeGuern
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.
Annals of neurology 2001;49(6):786-92.
2001: Anne-Sophie Lebre; L Jamot; Junko Takahashi; Nathalie Spassky; corinne leprince; Nicole Ravisé; Cecilia Zander; Hiroto Fujigasaki; P Kussel-Andermann; Charles Duyckaerts; Jacques Camonis; Alexis Brice
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
Human molecular genetics 2001;10(11):1201-13.
2001: Marie Vidailhet; JP Tassin; Franck Durif; A Nivelon-Chevallier; Yves Agid; Alexis Brice; Alexandra Dürr
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.
Neurology 2001;56(9):1213-6.
2001: Stéphanie Baulac; Gilles Huberfeld; Isabelle Gourfinkel-An; Georgia Mitropoulou; A Beranger; Jean-F Prud'homme; Michel Baulac; Alexis Brice; Roberto Bruzzone; Eric LeGuern
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
Nature genetics 2001;28(1):46-8.
2001: M Zarate-Lagunes; Wen-Jie Gu; Véronique Blanchard; C Francois; Marie-Paule Muriel; Annick Mouatt-Prigent; Bruno Bonici; A Parent; Andreas Hartmann; Jérôme Yelnik; G A Boehme; Laurent Pradier; Saliha Moussaoui; Baptiste A Faucheux; Rita Raisman-Vozari; Yves Agid; Alexis Brice; Etienne C Hirsch
Parkin immunoreactivity in the brain of human and non-human primates: an immunohistochemical analysis in normal conditions and in Parkinsonian syndromes.
The Journal of comparative neurology 2001;432(2):184-96.
2001: Magali Periquet; C Lücking; J Vaughan; Vincenzo Bonifati; Alexandra Dürr; Giuseppe De Michele; Martin Horstink; Matthew J Farrer; Sergei N Illarioshkin; Pierre Pollak; M Borg; C Brefel-Courbon; Patrice DENEFLE; Giuseppe Meco; Thomas Gasser; Monique Breteler; Nicholas W Wood; Yves Agid; Alexis Brice
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
American journal of human genetics 2001;68(3):617-26.
2001: Bart P C van de Warrenburg; Martin Lammens; Christoph B Lücking; Patrice DENEFLE; Pieter Wesseling; J Booij; Peter Praamstra; Niall Quinn; Alexis Brice; Martin Horstink
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.
Neurology 2001;56(4):555-7.
2001: Angele Guilbot; A Williams; Nicole Ravisé; Christophe Verny; Alexis Brice; Diane L Sherman; Peter J Brophy; Eric LeGuern; Valérie Delague; Corinne Bareil; André Mégarbané; Mireille Claustres
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Human molecular genetics 2001;10(4):415-21.
2001: Vincenzo Bonifati; Giuseppe De Michele; Christoph B Lücking; Alexandra Dürr; Edito Fabrizio; G Ambrosio; Nicola Vanacore; Michele De Mari; Roberto Marconi; L Capus; Monique Breteler; Thomas Gasser; Ben A Oostra; Nicholas W Wood; Yves Agid; Alessandro Filla; Giuseppe Meco; Alexis Brice
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):51-2.
2001: Claudia Gaspar; Iscia Lopes-Cendes; S Hayes; Jun Goto; K Arvidsson; Adelaide Dias; Isabel Silveira; Patrícia Maciel; Paula Coutinho; M Lima; Y X Zhou; bing-wen soong; Masahiko Watanabe; Paola Giunti; Giovanni Stevanin; Olaf Riess; H Sasaki; M Hsieh; G A Nicholson; E Brunt; J J Higgins; M Lauritzen; Lisbeth Tranebjaerg; V Volpini; Nicholas W Wood; Laura P W Ranum; Shoji Tsuji; Alexis Brice; Jorge Sequeiros; Guy Rouleau
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
American journal of human genetics 2001;68(2):523-8.
2001: Hiroto Fujigasaki; I C Verma; Agnès Camuzat; Russell L Margolis; Cecilia Zander; Anne-Sophie Lebre; L Jamot; R Saxena; I Anand; Susan E Holmes; Christopher A Ross; Alexandra Dürr; Alexis Brice
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.
Annals of neurology 2001;49(1):117-21.
2000: C B Lücking; Alexis Brice
Alpha-synuclein and Parkinson's disease.
Cellular and molecular life sciences : CMLS 2000;57(13-14):1894-908.
2000: Sergei N Illarioshkin; Irina A Ivanova-Smolenskaya; Elena D Markova; Tatyana B Zagorovskaya; Alexis Brice
Lack of alpha-synuclein gene mutations in families with autosomal dominant Parkinson's disease in Russia.
Journal of neurology 2000;247(12):968-9.
2000: G Cancel; Charles Duyckaerts; M Holmberg; Cecilia Zander; Gaël Yvert; Anne-Sophie Lebre; Merle Ruberg; Baptiste A Faucheux; Yves Agid; Etienne C Hirsch; Alexis Brice
Distribution of ataxin-7 in normal human brain and retina.
Brain : a journal of neurology 2000;123 Pt 12():2519-30.
2000: Gregory RAUX; R Gantier; Catherine Thomas-Anterion; J Boulliat; Patrice Verpillat; Didier Hannequin; Alexis Brice; Thierry Frebourg; Dominique Campion
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
Neurology 2000;55(10):1577-8.
2000: Odile Dubourg; C Barhoumi; Hamid Azzedine; Nazha Birouk; Alexis Brice; Pierre Bouche; Eric LeGuern
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness.
Muscle & nerve 2000;23(10):1508-14.
2000: Sergei N Illarioshkin; Irina A Ivanova-Smolenskaya; R A Rahmonov; Elena D Markova; G Stevanin; Alexis Brice
Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
Movement disorders : official journal of the Movement Disorder Society 2000;15(5):1020-3.
2000: L Zurutuza; Patrice Verpillat; Gregory RAUX; Didier Hannequin; Michèle Puel; Serge Belliard; A Michon; Y Pothin; Agnès Camuzat; C Penet; Cosette Martin; Alexis Brice; Dominique Campion; Françoise Clerget-Darpoux; Thierry Frebourg
APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population.
European journal of human genetics : EJHG 2000;8(9):713-6.
2000: Patrice Verpillat; S Bouley; Didier Hannequin; Serge Belliard; Michèle Puel; Catherine Thomas-Anterion; Bruno Dubois; Yves Agid; Dominique Campion; Françoise Clerget-Darpoux; Alexis Brice
Alpha2-macroglobulin gene and Alzheimer's disease: confirmation of association by haplotypes analyses.
Annals of neurology 2000;48(3):400-2.
2000: Alexandra Durr; Alexis Brice
Clinical and genetic aspects of spinocerebellar degeneration.
Current opinion in neurology 2000;13(4):407-13.
2000: Alexandra Dürr; JP Tassin; Marie Vidailhet; Franck Durif; Pierre Jedynak; Yves Agid; Alexis Brice
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus.
Annals of neurology 2000;48(1):127-8.
2000: Gregory RAUX; R Gantier; Cosette Martin; Y Pothin; Alexis Brice; Thierry Frebourg; Dominique Campion
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
Human mutation 2000;16(1):95.
2000: A Herman-Bert; Giovanni Stevanin; J C Netter; Olivier Rascol; D Brassat; P Calvas; Agnès Camuzat; Q Yuan; Martin Schalling; Alexandra Dürr; Alexis Brice
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
American journal of human genetics 2000;67(1):229-35.
2000: F Picard; Stéphanie Baulac; P Kahane; Etienne C Hirsch; R Sebastianelli; P Thomas; Federico Vigevano; P Genton; Renzo Guerrini; C A Gericke; I An; G Rudolf; A Herman; Alexis Brice; C Marescaux; Eric LeGuern
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Brain : a journal of neurology 2000;123 ( Pt 6)():1247-62.
2000: JP Tassin; Alexandra Dürr; Anne-Marie Bonnet; R Gil; Marie Vidailhet; Christoph B Lücking; J Y Goas; Franck Durif; M Abada; Bernard Echenne; Jacques Motte; A Lagueny; Lucette Lacomblez; Pierre Jedynak; B Bartholomé; Yves Agid; Alexis Brice
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Brain : a journal of neurology 2000;123 ( Pt 6)():1112-21.
2000: Christoph B Lücking; Alexandra Dürr; Vincenzo Bonifati; J Vaughan; Giuseppe De Michele; Thomas Gasser; Biswadjiet S Harhangi; Giuseppe Meco; Patrice DENEFLE; Nicholas W Wood; Yves Agid; Alexis Brice
Association between early-onset Parkinson's disease and mutations in the parkin gene.
The New England journal of medicine 2000;342(21):1560-7.
2000: Andrew Escayg; Bryan T MacDonald; Miriam H Meisler; Stéphanie Baulac; Gilles Huberfeld; I An-Gourfinkel; Alexis Brice; Eric LeGuern; Bruno Moulard; D Chaigne; Catherine Buresi; Alain Malafosse
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
Nature genetics 2000;24(4):343-5.
2000: Wen-Jie Gu; Nacer Abbas; M Z Lagunes; A Parent; Laurent Pradier; Georg Andrees Bohme; Yves Agid; Etienne C Hirsch; Rita Raisman-Vozari; Alexis Brice
Cloning of rat parkin cDNA and distribution of parkin in rat brain.
Journal of neurochemistry 2000;74(4):1773-6.
2000: Odile Dubourg; P Mouton; Alexis Brice; Eric LeGuern; Pierre Bouche
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMD 2000;10(3):206-8.
2000: D Brassat; Agnès Camuzat; Marie Vidailhet; I Feki; Pierre Jedynak; P Klap; Yves Agid; Alexandra Dürr; Alexis Brice
Frequency of the DYT1 mutation in primary torsion dystonia without family history.
Archives of neurology 2000;57(3):333-5.
2000: G Stevanin; A Herman; A Dürr; C Jodice; Marina Frontali; Yves Agid; Alexis Brice
Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
Nature genetics 2000;24(3):213; author reply 215.
2000: Nuria Fonknechten; D Mavel; P Byrne; Claire-Sophie Davoine; Corinne Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; Michael Hutchinson; Paul McMonagle; Jean-Marc Burgunder; A Tartaglione; Olivier Heinzlef; I Feki; Thomas Deufel; Nollaig A Parfrey; Alexis Brice; Bertrand Fontaine; Jean-F Prud'homme; Jean Weissenbach; Alexandra Dürr; Jamilé Hazan
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Human molecular genetics 2000;9(4):637-44.
2000: Bertrand Fontaine; Claire-Sophie Davoine; Alexandra Dürr; Caroline Paternotte; I Feki; Jean Weissenbach; Jamilé Hazan; Alexis Brice
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
American journal of human genetics 2000;66(2):702-7.
2000: Cecilia Zander; Qiu-Ping Yuan; Kerstin Lindblad; Giovanni Stevanin; Alexandra Dürr; Claire-Sophie Davoine; Jamilé Hazan; Bertrand Fontaine; Alexis Brice; Martin Schalling
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24.
Neuroscience letters 2000;279(1):41-4.
2000: Alexis Brice
[The genome and neurology. The example of Parkinson's disease].
Bulletin de l'Académie nationale de médecine 2000;184(7):1451-60; discussion 1460-1.
2000: Giovanni Stevanin; Alexandra Dürr; Alexis Brice
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.
European journal of human genetics : EJHG 2000;8(1):4-18.
2000: Mustafa A Salih; Thierry Maisonobe; Mohammad M Kabiraj; Molham M Al-Rayess; MH Al-Turaiki; M Akbar; A Tahan; J Andoni Urtizberea; Djamel Grid; Tarik Hamadouche; Angele Guilbot; Alexis Brice; Eric LeGuern
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity.
Neuromuscular disorders : NMD 2000;10(1):10-5.
1999: Giovanni Stevanin; G David; Alexandra Dürr; Paola Giunti; Ali Benomar; M Abada-Bendib; M S Lee; Yves Agid; Alexis Brice
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).
European journal of human genetics : EJHG 1999;7(8):889-96.
1999: Angele Guilbot; Nicole Ravisé; Ahmed Bouhouche; Philippe Coullin; Nazha Birouk; Thierry Maisonobe; Thierry Kuntzer; C Vial; Djamel Grid; Alexis Brice; Eric LeGuern
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.
European journal of human genetics : EJHG 1999;7(8):849-59.
1999: Jamilé Hazan; Nuria Fonknechten; D Mavel; Caroline Paternotte; D Samson; François Artiguenave; Claire-Sophie Davoine; Corinne Cruaud; Alexandra Dürr; Patrick Wincker; Phillipe Brottier; Laurence Cattolico; Valérie Barbe; Jean-Marc Burgunder; Jean-F Prud'homme; Alexis Brice; Bertrand Fontaine; B Heilig; Jean Weissenbach
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Nature genetics 1999;23(3):296-303.
1999: J Lopes; Sandrine Tardieu; K Silander; I Blair; Antoon Vandenberghe; Francesc Palau; Merle Ruberg; Alexis Brice; Eric LeGuern
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.
Human molecular genetics 1999;8(12):2285-92.
1999: Giovanni Stevanin; A Herman; Alexis Brice; Alexandra Dürr
Clinical and MRI findings in spinocerebellar ataxia type 5.
Neurology 1999;53(6):1355-7.
1999: Stéphanie Baulac; Isabelle Gourfinkel-An; Fabienne Picard; M Rosenberg-Bourgin; Jean-F Prud'homme; Michel Baulac; Alexis Brice; Eric LeGuern
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.
American journal of human genetics 1999;65(4):1078-85.
1999: Jamilé Hazan; Claire-Sophie Davoine; D Mavel; Nuria Fonknechten; Caroline Paternotte; C Fizames; Corinne Cruaud; D Samson; D Muselet; N Vega-Czarny; Alexis Brice; Gabor Gyapay; Roland Heilig; Bertrand Fontaine; Jean Weissenbach
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
Genomics 1999;60(3):309-19.
1999: Angele Guilbot; M Kessali; Nicole Ravisé; Tarik Hammadouche; Ahmed Bouhouche; Thierry Maisonobe; Djamel Grid; Alexis Brice; Eric LeGuern
The autosomal recessive form of CMT disease linked to 5q31-q33.
Annals of the New York Academy of Sciences 1999;883():453-6.
1999: Angele Guilbot; M Kessali; Nicole Ravisé; Tarik Hammadouche; Ahmed Bouhouche; Thierry Maisonobe; Djamel Grid; Alexis Brice; Eric LeGuern
The autosomal recessive form of CMT disease linked to 5q31-q33.
Annals of the New York Academy of Sciences 1999;883():56-9.
1999: Katrin Bürk; Michael Fetter; Michael Abele; Franco Laccone; Alexis Brice; Johannes Dichgans; Thomas Klockgether
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
Journal of neurology 1999;246(9):789-97.
1999: Ahmed Bouhouche; Ali Benomar; Nazha Birouk; A Mularoni; Farid Meggouh; JP Tassin; Djamel Grid; Antoon Vandenberghe; Mohamed Yahyaoui; Taïeb Chkili; Alexis Brice; Eric LeGuern
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
American journal of human genetics 1999;65(3):722-7.
1999: Dominique Campion; Cécile Dumanchin; Didier Hannequin; Bruno Dubois; Serge Belliard; Michèle Puel; Catherine Thomas-Anterion; A Michon; Cosette Martin; Frédéric Charbonnier; Gregory RAUX; Agnès Camuzat; C Penet; V Mesnage; M Martinez; Françoise Clerget-Darpoux; Alexis Brice; Thierry Frebourg
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
American journal of human genetics 1999;65(3):664-70.
1999: Raji Grewal; G Cancel; EP Leeflang; Alexandra Dürr; M S McPeek; D Draghinas; X Yao; Giovanni Stevanin; M O Alnot; Alexis Brice; Norman Arnheim
French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.
Human molecular genetics 1999;8(9):1779-84.
1999: D Brassat; A Durr; Yves Agid; Alexis Brice
[Genetics of Parkinson disease].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1999;20(8):709-14.
1999: Biswadjiet S Harhangi; Matthew J Farrer; Sarah J Lincoln; Vincenzo Bonifati; Giuseppe Meco; Giuseppe De Michele; Alexis Brice; Alexandra Dürr; M Martinez; Thomas Gasser; Benjamin Bereznai; Jenny R Vaughan; Nicholas W Wood; John Hardy; Ben A Oostra; Monique Breteler
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Neuroscience letters 1999;270(1):1-4.
1999: Bernd Evert; Ullrich Wüllner; Jörg B Schulz; M Weller; P Groscurth; Yvon Trottier; Alexis Brice; Thomas Klockgether
High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells.
Human molecular genetics 1999;8(7):1169-76.
1999: N Kubis; Alexandra Dürr; M Gugenheim; H Chneiweiss; P Mazzetti; Alexis Brice; Pierre Bouche
Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation.
Muscle & nerve 1999;22(6):712-7.
1999: Paola Giunti; Giovanni Stevanin; Paul Worth; G David; Alexis Brice; Nicholas W Wood
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
American journal of human genetics 1999;64(6):1594-603.
1999: O Didierjean; G Cancel; Giovanni Stevanin; Alexandra Dürr; Katrin Bürk; Ali Benomar; Agnes Lezin; Samir Belal; M Abada-Bendid; Thomas Klockgether; Alexis Brice
Linkage disequilibrium at the SCA2 locus.
Journal of medical genetics 1999;36(5):415-7.
1999: Anne Philippe; Maria Martinez; Michel Guilloud-Bataille; Christopher Gillberg; M Råstam; Eili Sponheim; M Coleman; Michele Zappella; H Aschauer; L Van Maldergem; Christiane Penet; JOSUE FEINGOLD; Alexis Brice; Marion Leboyer; L van Malldergerme
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.
Human molecular genetics 1999;8(5):805-12.
1999: P Mouton; Sandrine Tardieu; Riadh Gouider; Nazha Birouk; Thierry Maisonobe; Odile Dubourg; Alexis Brice; Eric LeGuern; Pierre Bouche
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.
Neurology 1999;52(7):1440-6.
1999: Julien Allard; Sonia Barron; Suzanne Trottier; Pascale Cervera; Catherine Daumas-Duport; E Leguern; Alexis Brice; Jean-Charles Schwartz; Pierre Sokoloff
Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease.
Glia 1999;26(2):176-85.
1999: HZ Ring; H Chang; Angele Guilbot; Alexis Brice; Eric LeGuern; Uta Francke
The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q.
Human genetics 1999;104(4):326-32.
1999: Katrin Bürk; Christoph Globas; S Bösch; Susanne Gräber; Michael Abele; Alexis Brice; Johannes Dichgans; Irene Daum; Thomas Klockgether
Cognitive deficits in spinocerebellar ataxia 2.
Brain : a journal of neurology 1999;122 ( Pt 4)():769-77.
1999: Nacer Abbas; Christoph B Lücking; Sylvain Ricard; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; S Bouley; Jenny R Vaughan; Thomas Gasser; Roberto Marconi; Emmanuel Broussolle; C Brefel-Courbon; Biswadjiet S Harhangi; Ben A Oostra; Edito Fabrizio; G A Böhme; Laurent Pradier; Nicholas W Wood; Alessandro Filla; Giuseppe Meco; Patrice DENEFLE; Yves Agid; Alexis Brice
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Human molecular genetics 1999;8(4):567-74.
1999: Karine Ancolio; Cécile Dumanchin; H Barelli; J M Warter; Alexis Brice; Dominique Campion; Thierry Frébourg; Frédéric Checler
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(7):4119-24.
1999: N Sabbagh; Alexis Brice; D Marez; A Dürr; M Legrand; Jean-Marc Lo-Guidice; Alain Destée; Yves Agid; Franck Broly
CYP2D6 polymorphism and Parkinson's disease susceptibility.
Movement disorders : official journal of the Movement Disorder Society 1999;14(2):230-6.
1999: Alexandra Dürr; Valerie Hahn-Barma; Alexis Brice; Christophe Pêcheux; Catherine Dodé; JOSUE FEINGOLD
Homozygosity in Huntington's disease.
Journal of medical genetics 1999;36(2):172-3.
1999: Mireille Cossée; Alexandra Dürr; Martine Schmitt; Niklas Dahl; P Trouillas; P Allinson; M Kostrzewa; A Nivelon-Chevallier; Karl-Henrik Gustavson; Alfried Kohlschuetter; U Müller; Jean-Louis Mandel; Alexis Brice; Michel Koenig; F Cavalcanti; Angela Tammaro; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; M Labuda; L Montermini; J Poirier; Massimo Pandolfo
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Charles Duyckaerts; Alexandra Dürr; G Cancel; Alexis Brice
Nuclear inclusions in spinocerebellar ataxia type 1.
Acta neuropathologica 1999;97(2):201-7.
1999: Anne-Sophie Lebre; Alexandra Durr; Pierre Jedynak; Gérard Ponsot; Marie Vidailhet; Yves Agid; Alexis Brice
DYT1 mutation in French families with idiopathic torsion dystonia.
Brain : a journal of neurology 1999;122 ( Pt 1)():41-5.
1998: F Picard; J Tassin; M Vidailhet; C Marescaux; F Picard; Yves Agid; Alexis Brice
Autosomal dominant paroxysmal kinesigenic choreoathetosis: a clinical and genetic study of two families.
Journal of neurology, neurosurgery, and psychiatry 1998;65(6):955-6.
1998: Yvon Trottier; G Cancel; I An-Gourfinkel; Yves Lutz; Chantal Weber; Alexis Brice; Etienne C Hirsch; Jean-Louis Mandel
Heterogeneous intracellular localization and expression of ataxin-3.
Neurobiology of disease 1998;5(5):335-47.
1998: Alexis Brice
[Genetics of extrapyramidal diseases].
Revue neurologique 1998;154(11):739-42.
1998: Alexis Brice
[Parkinson disease: monogenic forms and genetic susceptibility factors].
Pathologie-biologie 1998;46(9):710-2.
1998: Christoph B Lücking; Nacer Abbas; Alexandra Dürr; Vincenzo Bonifati; Anne-Marie Bonnet; T de Broucker; G De Michele; Nicholas W Wood; Yves Agid; Alexis Brice
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group.
Lancet 1998;352(9137):1355-6.
1998: H Takano; G Cancel; Takeshi Ikeuchi; D Lorenzetti; R Mawad; Giovanni Stevanin; O Didierjean; Alexandra Dürr; Mutsuo Oyake; Takayoshi Shimohata; R Sasaki; Reiji Koide; Shuichi Igarashi; Shintaro Hayashi; Yoshihisa Takiyama; Masatoyo Nishizawa; Hajime Tanaka; Huda Y Zoghbi; Alexis Brice; Shoji Tsuji
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
American journal of human genetics 1998;63(4):1060-6.
1998: Cécile Dumanchin; Agnès Camuzat; Dominique Campion; Patrice Verpillat; D Hannequin; Bruno Dubois; Pascale Saugier-Veber; Cosette Martin; C Penet; Frédéric Charbonnier; Yves Agid; Thierry Frebourg; Alexis Brice
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
Human molecular genetics 1998;7(11):1825-9.
1998: Giovanni Stevanin; Paola Giunti; G D Belal; Alexandra Dürr; Merle Ruberg; Nicholas W Wood; Alexis Brice
De novo expansion of intermediate alleles in spinocerebellar ataxia 7.
Human molecular genetics 1998;7(11):1809-13.
1998: Thomas Klockgether; Martin Skalej; D Wedekind; Andreas R Luft; D Welte; Jörg B Schulz; Michael Abele; Katrin Bürk; Franco Laccone; Alexis Brice; Johannes Dichgans
Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.
Brain : a journal of neurology 1998;121 ( Pt 9)():1687-93.
1998: Alexis Brice
Unstable mutations and neurodegenerative disorders.
Journal of neurology 1998;245(8):505-10.
1998: Cécile Dumanchin; Alexis Brice; Dominique Campion; Didier Hannequin; Cosette Martin; V Moreau; Yves Agid; M Martinez; Françoise Clerget-Darpoux; Thierry Frebourg
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
Journal of medical genetics 1998;35(8):672-3.
1998: J Vaughan; Alexandra Durr; JP Tassin; Benjamin Bereznai; Thomas Gasser; Vincenzo Bonifati; Giuseppe De Michele; Edito Fabrizio; Giampiero Volpe; O Bandmann; William G Johnson; Lawrence I Golbe; Monique Breteler; Giuseppe Meco; Yves Agid; Alexis Brice; CD Marsden; Nicholas W Wood
The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
Annals of neurology 1998;44(2):270-3.
1998: JP Tassin; Alexandra Dürr; T de Broucker; Nacer Abbas; Vincenzo Bonifati; Giuseppe De Michele; Anne-Marie Bonnet; Emmanuel Broussolle; Pierre Pollak; Marie Vidailhet; Michele De Mari; Roberto Marconi; S Medjbeur; Alessandro Filla; Giuseppe Meco; Yves Agid; Alexis Brice
Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
American journal of human genetics 1998;63(1):88-94.
1998: Isabelle Gourfinkel-An; G Cancel; Charles Duyckaerts; Baptiste A Faucheux; JEAN-JACQUES HAUW; Yvon Trottier; Alexis Brice; Yves Agid; Etienne C Hirsch
Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset.
Neuroreport 1998;9(8):1823-6.
1998: M Martinez; Dominique Campion; Alexis Brice; Didier Hannequin; Bruno Dubois; O Didierjean; A Michon; Catherine Thomas-Anterion; Michèle Puel; Thierry Frebourg; Yves Agid; Françoise Clerget-Darpoux
Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease.
Archives of neurology 1998;55(6):810-6.
1998: M Holmberg; Charles Duyckaerts; Alexandra Dürr; G Cancel; Isabelle Gourfinkel-An; Philippe Damier; Baptiste A Faucheux; Yvon Trottier; Etienne C Hirsch; Yves Agid; Alexis Brice
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.
Human molecular genetics 1998;7(5):913-8.
1998: Takeshi Ikeuchi; K Sanpei; H Takano; H Sasaki; K Tashiro; G Cancel; Alexis Brice; Thomas D Bird; Gerard D Schellenberg; Margaret Pericak-Vance; K A Welsh-Bohmer; L N Clark; Kirk Wilhelmsen; Shoji Tsuji
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
Genomics 1998;49(2):321-6.
1998: Thomas Klockgether; R Lüdtke; B Kramer; Michael Abele; Katrin Bürk; Ludger Schöls; Olaf Riess; Franco Laccone; Sylvia Boesch; I Lopes-Cendes; Alexis Brice; R Inzelberg; Nelly Zilber; Johannes Dichgans
The natural history of degenerative ataxia: a retrospective study in 466 patients.
Brain : a journal of neurology 1998;121 ( Pt 4)():589-600.
1998: Nazha Birouk; Eric LeGuern; Thierry Maisonobe; H Rouger; Riadh Gouider; Sandrine Tardieu; M Gugenheim; MC Routon; Jean-Marc Léger; Yves Agid; Alexis Brice; Pierre Bouche
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
Neurology 1998;50(4):1074-82.
1998: Jenny R Vaughan; Matthew J Farrer; Zbigniew K Wszolek; Thomas Gasser; Alexandra Durr; Yves Agid; Vincenzo Bonifati; G DeMichele; Giampiero Volpe; Sarah J Lincoln; Monique Breteler; Giuseppe Meco; Alexis Brice; CD Marsden; John Hardy; Nicholas W Wood
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
Human molecular genetics 1998;7(4):751-3.
1998: Farid Meggouh; Ali Benomar; H Rouger; Sandrine Tardieu; Nazha Birouk; JP Tassin; C Barhoumi; Mohamed Yahyaoui; Taïeb Chkili; Alexis Brice; Eric LeGuern
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
Journal of medical genetics 1998;35(3):251-2.
1998: Sophie Rivaud-Pechoux; Alexandra Dürr; Bertrand Gaymard; G Cancel; Christoph J Ploner; Yves Agid; Alexis Brice; Charles Pierrot-Deseilligny
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Annals of neurology 1998;43(3):297-302.
1998: Valerie Hahn-Barma; Bernard Deweer; Alexandra Dürr; Catherine Dodé; JOSUE FEINGOLD; Bernard Pillon; Yves Agid; Alexis Brice; Bruno Dubois
Are cognitive changes the first symptoms of Huntington's disease? A study of gene carriers.
Journal of neurology, neurosurgery, and psychiatry 1998;64(2):172-7.
1998: Jens Johansson; Lars Forsgren; Ola Sandgren; Alexis Brice; Gösta Holmgren; M Holmberg
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.
Human molecular genetics 1998;7(2):171-6.
1998: G David; Alexandra Dürr; Giovanni Stevanin; G Cancel; Nacer Abbas; Ali Benomar; Samir Belal; Anne-Sophie Lebre; M Abada-Bendib; Djamel Grid; M Holmberg; Mohamed Yahyaoui; Faycal Hentati; Taïeb Chkili; Yves Agid; Alexis Brice
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
Human molecular genetics 1998;7(2):165-70.
1998: Didier Hannequin; Dominique Campion; Cécile Dumanchin; M Martinez; Yves Agid; Françoise Clerget-Darpoux; Thierry Frebourg; Alexis Brice
[Genetics of Alzheimer's disease].
Revue neurologique 1998;154 Suppl 2():S65-74.
1998: G Cancel; Isabelle Gourfinkel-An; Giovanni Stevanin; O Didierjean; Nacer Abbas; Etienne C Hirsch; Yves Agid; Alexis Brice
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.
Human mutation 1998;11(1):23-7.
1998: J Lopes; Nicole Ravisé; Antoon Vandenberghe; Francesc Palau; V Ionasescu; M Mayer; Nicolas Lévy; Nicholas W Wood; N Tachi; Pierre Bouche; Philippe Latour; Merle Ruberg; Alexis Brice; Eric LeGuern
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
Human molecular genetics 1998;7(1):141-8.
1997: Michael Abele; Katrin Bürk; Frank Andres; Helge Topka; Franco Laccone; S Bösch; Alexis Brice; G Cancel; Johannes Dichgans; Thomas Klockgether
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.
Brain : a journal of neurology 1997;120 ( Pt 12)():2141-8.
1997: Isabelle Gourfinkel-An; G Cancel; Yvon Trottier; Didier Devys; Làszlò Tora; Yves Lutz; G Imbert; Frédéric Saudou; Giovanni Stevanin; Yves Agid; Alexis Brice; Jean-Louis Mandel; Etienne C Hirsch
Differential distribution of the normal and mutated forms of huntingtin in the human brain.
Annals of neurology 1997;42(5):712-9.
1997: Giovanni Stevanin; Alexandra Dürr; G David; O Didierjean; G Cancel; Sophie Rivaud; Ayman Tourbah; J M Warter; Yves Agid; Alexis Brice
Clinical and molecular features of spinocerebellar ataxia type 6.
Neurology 1997;49(5):1243-6.
1997: J Lopes; Antoon Vandenberghe; Sandrine Tardieu; V Ionasescu; Nicolas Lévy; Nicholas W Wood; N Tachi; Pierre Bouche; Philippe Latour; Alexis Brice; Eric LeGuern
Sex-dependent rearrangements resulting in CMT1A and HNPP.
Nature genetics 1997;17(2):136-7.
1997: Franck Schürhoff; Giovanni Stevanin; Yvon Trottier; Frank Bellivier; Marie-Christine Mouren-Siméoni; Alexis Brice; Marion Leboyer
A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved.
Psychiatry research 1997;72(2):141-4.
1997: G David; Nacer Abbas; Giovanni Stevanin; Alexandra Dürr; Gaël Yvert; G Cancel; C Weber; G Imbert; Frédéric Saudou; E Antoniou; Harry A Drabkin; Robert M Gemmill; Paola Giunti; Ali Benomar; Nicholas W Wood; Merle Ruberg; Yves Agid; Jean-Louis Mandel; Alexis Brice
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Nature genetics 1997;17(1):65-70.
1997: Nadine Le Forestier; Eric LeGuern; Philippe Coullin; Nazha Birouk; Thierry Maisonobe; Alexis Brice; Jean-Marc Léger; Pierre Bouche
Recurrent polyradiculoneuropathy with the 17p11.2 deletion.
Muscle & nerve 1997;20(9):1184-6.
1997: Thomas Gasser; Bertram Müller-Myhsok; Zbigniew K Wszolek; Alexandra Dürr; Jenny R Vaughan; Vincenzo Bonifati; Giuseppe Meco; Benjamin Bereznai; R Oehlmann; Yves Agid; Alexis Brice; Nicholas W Wood
Genetic complexity and Parkinson's disease.
Science (New York, N.Y.) 1997;277(5324):388-9; author reply 389.
1997: O Didierjean; M Martinez; Dominique Campion; Didier Hannequin; Bruno Dubois; Cosette Martin; Michèle Puel; Catherine Thomas-Anterion; Florence Pasquier; O Moreau; Marie-Claude Babron; C Penet; Yves Agid; Françoise Clerget-Darpoux; Thierry Frebourg; Alexis Brice
No effect of the alpha1-antichymotrypsin A allele in Alzheimer's disease.
Journal of neurology, neurosurgery, and psychiatry 1997;63(1):103-5.
1997: Giovanni Stevanin; Anne-Sophie Lebre; C Mathieux; G Cancel; Nacer Abbas; O Didierjean; Alexandra Dürr; Yvon Trottier; Yves Agid; Alexis Brice
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.
American journal of human genetics 1997;60(6):1548-52.
1997: A Hanash; Eric LeGuern; Nazha Birouk; Olivier Clermont; J Pouget; Pierre Bouche; Arnold Munnich; Alexis Brice; Judith Melki
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Journal of medical genetics 1997;34(6):507-8.
1997: Richard Isnard; H Kalotka; Alexandra Dürr; M Cossée; M Schmitt; Françoise Pousset; Daniel Thomas; Alexis Brice; Michel Koenig; Michel Komajda
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.
Circulation 1997;95(9):2247-9.
1997: Nazha Birouk; Riadh Gouider; Eric Le Guern; M Gugenheim; Sandrine Tardieu; Thierry Maisonobe; Nadine Le Forestier; Yves Agid; Alexis Brice; Pierre Bouche
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
Brain : a journal of neurology 1997;120 ( Pt 5)():813-23.
1997: G Cancel; Alexandra Dürr; O Didierjean; G Imbert; Katrin Bürk; Agnes Lezin; Samir Belal; Ali Benomar; M Abada-Bendib; C Vial; J Guimarães; H Chneiweiss; Giovanni Stevanin; Gaël Yvert; Nacer Abbas; Frédéric Saudou; Anne-Sophie Lebre; Mohamed Yahyaoui; Faycal Hentati; JC Vernant; Thomas Klockgether; Jean-Louis Mandel; Yves Agid; Alexis Brice
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Human molecular genetics 1997;6(5):709-15.
1997: Merle Ruberg; Bernard Brugg; A Prigent; Etienne C Hirsch; Alexis Brice; Yves Agid
Is differential regulation of mitochondrial transcripts in Parkinson's disease related to apoptosis?
Journal of neurochemistry 1997;68(5):2098-110.
1997: Katrin Bürk; Giovanni Stevanin; O Didierjean; G Cancel; Yvon Trottier; Martin Skalej; Michael Abele; Alexis Brice; Johannes Dichgans; Thomas Klockgether
Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus.
Journal of neurology 1997;244(4):256-61.
1997: M Kessali; R Zemmouri; Angele Guilbot; Thierry Maisonobe; Alexis Brice; Eric LeGuern; Djamel Grid
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
Neurology 1997;48(4):867-73.
1997: Luc Krols; Jean-Jacques Martin; G David; Nicole Van Regemorter; Ali Benomar; Ann Löfgren; Giovanni Stevanin; A Dürr; Alexis Brice; Christine Van Broeckhoven
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
Human genetics 1997;99(2):225-32.
1997: H Bickeböller; Dominique Campion; Alexis Brice; Philippe Amouyel; Didier Hannequin; O Didierjean; C Penet; Cosette Martin; Jordi Pérez-Tur; A Michon; Bruno Dubois; F Ledoze; Catherine Thomas-Anterion; Florence Pasquier; Michèle Puel; Jean-Francois Demonet; Olivier Moreaud; Marie-Claude Babron; D Meulien; D Guez; Marie-Christine Chartier-Harlin; Thierry Frebourg; Yves Agid; M Martinez; Françoise Clerget-Darpoux
Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.
American journal of human genetics 1997;60(2):439-46.
1997: H Rouger; Eric LeGuern; Nazha Birouk; Riadh Gouider; Sandrine Tardieu; Emmanuelle Plassart-Schiess; M Gugenheim; Jean-Michel Vallat; Jean-Pierre Louboutin; Pierre Bouche; Yves Agid; Alexis Brice
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Human mutation 1997;10(6):443-52.
1997: Eric LeGuern; Riadh Gouider; D Mabin; Sandrine Tardieu; Nazha Birouk; P Parent; Pierre Bouche; Alexis Brice
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
Annals of neurology 1997;41(1):104-8.
1996: Alexis Brice; Bruno Dubois; Yves Agid; Dominique Campion; M Martinez; F Clerger-Darpoux; M Bellis; J Mallet; Thierry Frebourg; Didier Hannequin; Michèle Puel; F Ledoze; Florence Pasquier; M A Zimmerman; Catherine Thomas-Anterion; O Moreaud; J Y Goas
[Genetics of dominant autosomal forms of Alzheimer disease: 3 genes and one phenotype. Groupe de Recherche Francais sur la Maladie d'Alzheimer].
Revue neurologique 1996;152(12):725-6.
1996: Giovanni Stevanin; Yvon Trottier; G Cancel; Alexandra Dürr; G David; O Didierjean; Katrin Bürk; G Imbert; Frédéric Saudou; M Abada-Bendib; Isabelle Gourfinkel-An; Ali Benomar; Nacer Abbas; Thomas Klockgether; Djamel Grid; Yves Agid; Jean-Louis Mandel; Alexis Brice
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
Human molecular genetics 1996;5(12):1887-92.
1996: G David; Paola Giunti; Nacer Abbas; Philippe Coullin; Giovanni Stevanin; W Horta; Robert M Gemmill; Jean Weissenbach; Nicholas W Wood; S Cunha; Harry A Drabkin; A E Harding; Yves Agid; Alexis Brice
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
American journal of human genetics 1996;59(6):1328-36.
1996: G Imbert; Frédéric Saudou; Gaël Yvert; Didier Devys; Yvon Trottier; J M Garnier; C Weber; Jean-Louis Mandel; G Cancel; Nacer Abbas; Alexandra Dürr; O Didierjean; Giovanni Stevanin; Yves Agid; Alexis Brice
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nature genetics 1996;14(3):285-91.
1996: Alexandra Dürr; M Cossee; Yves Agid; V Campuzano; C Mignard; C Penet; Jean-Louis Mandel; Alexis Brice; Michel Koenig
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
The New England journal of medicine 1996;335(16):1169-75.
1996: Katrin Bürk; Michael Abele; Michael Fetter; Johannes Dichgans; Martin Skalej; Franco Laccone; O Didierjean; Alexis Brice; Thomas Klockgether
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.
Brain : a journal of neurology 1996;119 ( Pt 5)():1497-505.
1996: Alexandra Dürr; Claire-Sophie Davoine; Caroline Paternotte; J von Fellenberg; S Cogilinicean; Paula Coutinho; C Lamy; S Bourgeois; Jean-F Prud'homme; C Penet; Jean-Louis Mas; Jean-Marc Burgunder; Jamilé Hazan; Jean Weissenbach; Alexis Brice; Bertrand Fontaine
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Brain : a journal of neurology 1996;119 ( Pt 5)():1487-96.
1996: Kerstin Lindblad; M L Savontaus; Giovanni Stevanin; M Holmberg; Kathleen B Digre; Cecilia Zander; H Ehrsson; G David; Ali Benomar; E Nikoskelainen; Yvon Trottier; G Holmgren; L J Ptacek; A Anttinen; Alexis Brice; Martin Schalling
An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
Genome research 1996;6(10):965-71.
1996: Eric LeGuern; Angele Guilbot; M Kessali; Nicole Ravisé; JP Tassin; Thierry Maisonobe; Djamel Grid; Alexis Brice
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.
Human molecular genetics 1996;5(10):1685-8.
1996: Marina Frontali; G Sabbadini; Andrea Novelletto; C Jodice; F Naso; Maria Spadaro; Paola Giunti; A G Jacopini; Liana Veneziano; Elide Mantuano; Patrizia Malaspina; Laura Ulizzi; Alexis Brice; A Durr; L Terrenato
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions.
Annals of human genetics 1996;60(Pt 5):423-35.
1996: F Boissière; Laurent Pradier; P Delaère; Baptiste A Faucheux; F Revah; Alexis Brice; Yves Agid; Etienne C Hirsch
Regional and cellular presenilin 2 (STM2) gene expression in the human brain.
Neuroreport 1996;7(12):2021-5.
1996: Dominique Campion; Alexis Brice; Didier Hannequin; Frédéric Charbonnier; Bruno Dubois; Cosette Martin; A Michon; C Penet; M Bellis; A Calenda; M Martinez; Yves Agid; Françoise Clerget-Darpoux; Thierry Frebourg
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
Journal of medical genetics 1996;33(8):661-4.
1996: Alexandra Dürr; Alexis Brice
Genetics of movement disorders.
Current opinion in neurology 1996;9(4):290-7.
1996: Dominique Campion; Alexis Brice; Cécile Dumanchin; Michèle Puel; M Baulac; V De La Sayette; Didier Hannequin; Charles Duyckaerts; A Michon; Cosette Martin; V Moreau; C Penet; M Martinez; Françoise Clerget-Darpoux; Yves Agid; Thierry Frebourg
A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.
Neuroreport 1996;7(10):1582-4.
1996: R Sherrington; S Froelich; Sandro Sorbi; Dominique Campion; H Chi; Ekaterina Rogaeva; Georges Levesque; Evgeny I Rogaev; C Lin; Yan Liang; Masaki Ikeda; L Mar; Alexis Brice; Yves Agid; M E Percy; F Clerget-Darpoux; Silvia Piacentini; Giordana Marcon; Benedetta Nacmias; Luigi Amaducci; Thierry Frebourg; Lars Lannfelt; Johanna M Rommens; Peter St George-Hyslop
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Human molecular genetics 1996;5(7):985-8.
1996: Shuichi Igarashi; Yoshihisa Takiyama; G Cancel; Ekaterina Rogaeva; H Sasaki; A Wakisaka; Y X Zhou; H Takano; K Endo; K Sanpei; Mutsuo Oyake; Hajime Tanaka; Giovanni Stevanin; Nacer Abbas; Alexandra Dürr; Evgeny I Rogaev; R Sherrington; T Tsuda; Masaki Ikeda; E Cassa; Masatoyo Nishizawa; Ali Benomar; J Julien; Jean Weissenbach; G X Wang; Yves Agid; Peter St George-Hyslop; Alexis Brice; S Tsuji
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Human molecular genetics 1996;5(7):923-32.
1996: Jean-Michel Vallat; Philippe Sindou; pierre-marie preux; François Tabaraud; A M Milor; Philippe Couratier; E LeGuern; Alexis Brice
Ultrastructural PMP22 expression in inherited demyelinating neuropathies.
Annals of neurology 1996;39(6):813-7.
1996: J Lopes; Eric LeGuern; Riadh Gouider; Sandrine Tardieu; Nacer Abbas; Nazha Birouk; M Gugenheim; Pierre Bouche; Yves Agid; Alexis Brice
Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
American journal of human genetics 1996;58(6):1223-30.
1996: Agnes Lezin; G Cancel; Giovanni Stevanin; Didier Smadja; JC Vernant; Alexandra Dürr; Jenny Martial; G G Buisson; R Bellance; H Chneiweiss; Yves Agid; Alexis Brice
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.
Human genetics 1996;97(5):671-6.
1996: Alexandra Dürr; Giovanni Stevanin; G Cancel; Charles Duyckaerts; Nacer Abbas; O Didierjean; H Chneiweiss; Ali Benomar; Olivier Lyon-Caen; J Julien; M Serdaru; C Penet; Yves Agid; Alexis Brice
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
Annals of neurology 1996;39(4):490-9.
1996: V Campuzano; L Montermini; M D Moltò; Luigi Pianese; Mireille Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; Antonella Monticelli; F Zara; J Cañizares; Hana Koutnikova; Sanjay I Bidichandani; Cinzia Gellera; Alexis Brice; P Trouillas; Giuseppe De Michele; Alessandro Filla; Rosa de Frutos; Francesc Palau; Pragna I Patel; Stefano Di Donato; Jean-Louis Mandel; Sergio Cocozza; Michel Koenig; Massimo Pandolfo
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1996: H Rouger; Eric LeGuern; Riadh Gouider; Sandrine Tardieu; Nazha Birouk; M Gugenheim; Pierre Bouche; Yves Agid; Alexis Brice
High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
American journal of human genetics 1996;58(3):638-41.
1996: M Martinez; Dominique Campion; Marie-Claude Babron; Didier Hannequin; Yves Agid; M Bellis; Alexis Brice; J Mallet; A Michon; Catherine Thomas-Anterion; Françoise Clerget-Darpoux
Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.
American journal of medical genetics 1996;67(1):9-12.
1996: Frédéric Saudou; Didier Devys; Yvon Trottier; G Imbert; M E Stoeckel; Alexis Brice; Jean-Louis Mandel
Polyglutamine expansions and neurodegenerative diseases.
Cold Spring Harbor symposia on quantitative biology 1996;61():639-47.
1996: Kerstin Lindblad; A Lunkes; P Maciel; Giovanni Stevanin; Cecilia Zander; T Klockgether; T Ratzlaff; Alexis Brice; G A Rouleau; T Hudson; Georg Auburger; Martin Schalling
Mutation detection in Machado-Joseph disease using repeat expansion detection.
Molecular medicine (Cambridge, Mass.) 1996;2(1):77-85.
1996: Didier Hannequin; Dominique Campion; Alexis Brice; Thierry Frebourg; M Martinez; F Clerget-Darpoux; Yves Agid
[Genetics of Alzheimer's disease].
La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne 1996;17(7):545-50.
1996: Eva Nelis; Christine Van Broeckhoven; Peter De Jonghe; Ann Löfgren; Antoon Vandenberghe; Philippe Latour; E Le Guern; Alexis Brice; Maria Luisa Mostacciuolo; Franco Schiavon; Francesc Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; Paola Mandich; Emilia Bellone; K Silander; Marja-Liisa Savontaus; Ruth Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG 1996;4(1):25-33.
1996: Eric LeGuern; Riadh Gouider; Nicole Ravisé; J Lopes; Sandrine Tardieu; M Gugenheim; Nacer Abbas; Pierre Bouche; Yves Agid; Alexis Brice
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Human molecular genetics 1996;5(1):103-6.
1996: Eric LeGuern; N Ravise; Riadh Gouider; M Gugenheim; J Lopes; Pierre Bouche; Yves Agid; Alexis Brice
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.
Cytogenetics and cell genetics 1996;72(1):20-5.
1996: Vincent Timmerman; Ann Löfgren; E Le Guern; P Liang; Peter De Jonghe; Jean-Jacques Martin; D Verhalle; Wim Robberecht; Riadh Gouider; Alexis Brice; Christine Van Broeckhoven
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Human genetics 1996;97(1):26-34.
1995: Jordi Pérez-Tur; Dominique Campion; M Martinez; Alexis Brice; Sandrine Tardieu; Didier Hannequin; Yves Agid; André Delacourte; Françoise Clerget-Darpoux; Marie-Christine Chartier-Harlin
Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.
American journal of medical genetics 1995;60(6):550-3.
1995: Didier Hannequin; Dominique Campion; Sandrine Tardieu; Pascal Auzou; M Martinez; Bruno Dubois; Françoise Clerget-Darpoux; Yves Agid; Alexis Brice
[Phenotype of familial forms of early-onset Alzheimer's disease linked to chromosome 14. Clinical and neuropsychological characteristics of a large group].
Revue neurologique 1995;151(12):682-90.
1995: Dominique Campion; Jean-Michel Flaman; Alexis Brice; Didier Hannequin; Bruno Dubois; Cosette Martin; V Moreau; Frédéric Charbonnier; O Didierjean; Sandrine Tardieu
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Human molecular genetics 1995;4(12):2373-7.
1995: O Dubourg; Alexandra Dürr; H Chneiweiss; Giovanni Stevanin; G Cancel; C Penet; Yves Agid; Alexis Brice
[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families].
Revue neurologique 1995;151(11):657-60.
1995: Riadh Gouider; Eric LeGuern; M Gugenheim; Sandrine Tardieu; Thierry Maisonobe; Jean-Marc Léger; Jean-Michel Vallat; Yves Agid; Pierre Bouche; Alexis Brice
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.
Neurology 1995;45(11):2018-23.
1995: Giovanni Stevanin; G Cancel; O Didierjean; Alexandra Dürr; Nacer Abbas; E Cassa; J Feingold; Yves Agid; Alexis Brice
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
American journal of human genetics 1995;57(5):1247-50.
1995: G Cancel; Giovanni Stevanin; Alexandra Dürr; H Chneiweiss; C Penet; Y Pothin; Yves Agid; Alexis Brice
SCA2 is not a major locus for ADCA type I in French families.
American journal of medical genetics 1995;60(5):382-5.
1995: Giovanni Stevanin; E Cassa; G Cancel; Nacer Abbas; Alexandra Dürr; E Jardim; Yves Agid; P S Sousa; Alexis Brice
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.
Journal of medical genetics 1995;32(10):827-30.
1995: Suzana Gispert; A Lunkes; N Santos; G Orozco; D Ha-Hao; T Ratzlaff; J Aguiar; I Torrens; L Heredero; Alexis Brice
Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2.
American journal of human genetics 1995;57(4):972-5.
1995: Alexandra Dürr; Giovanni Stevanin; G Cancel; Nacer Abbas; H Chneiweiss; Yves Agid; J Feingold; Alexis Brice
Gender equality in Machado-Joseph disease.
Nature genetics 1995;11(2):118-9.
1995: R Carĕro-Valenzuela; K Lindblad; Haydeh Payami; William G Johnson; Martin Schalling; E S Stenroos; S Shattuc; John G Nutt; Alexis Brice; M Litt
No evidence for association of familial Parkinson's disease with CAG repeat expansion.
Neurology 1995;45(9):1760-3.
1995: Dominique Campion; M Martinez; Didier Hannequin; Alexis Brice; Catherine Thomas-Anterion; A Michon; Marie-Claude Babron; Bruno Dubois; Y Goas; A Jaillard-Serradt
Characteristics of familial aggregation in early-onset Alzheimer's disease: evidence of subgroups.
American journal of medical genetics 1995;60(3):221-7.
1995: Christophe Pêcheux; J F Mouret; Alexandra Dürr; Yves Agid; J Feingold; Alexis Brice; Catherine Dodé; Jean-Claude Kaplan
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
Journal of medical genetics 1995;32(5):399-400.
1995: Alexis Brice; Sandrine Tardieu; Dominique Campion; E Le Guern; M Martinez; A Carpentier; C Penet; Bruno Dubois; M Bellis; Jacques Mallet
Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group.
American journal of medical genetics 1995;60(2):91-3.
1995: Dominique Campion; Cosette Martin; Roland Heilig; Frédéric Charbonnier; V Moreau; Jean-Michel Flaman; JL Petit; Didier Hannequin; Alexis Brice; Thierry Frebourg
The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease.
Genomics 1995;26(2):254-7.
1995: Alexandra Dürr; Catherine Dodé; V Hahn; Christophe Pêcheux; Bernard Pillon; J Feingold; Jean-Claude Kaplan; Yves Agid; Alexis Brice
Diagnosis of "sporadic" Huntington's disease.
Journal of the neurological sciences 1995;129(1):51-5.
1995: O Dubourg; Alexandra Dürr; G Cancel; Giovanni Stevanin; H Chneiweiss; C Penet; Yves Agid; Alexis Brice
Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.
Annals of neurology 1995;37(2):176-80.
1995: Stanislas LYONNET; Alexis Brice; J Zlotogora
Israel-France binational symposium on 'hereditary diseases, molecular diagnosis and gene therapy'.
European journal of human genetics : EJHG 1995;3(6):378-81.
1995: Giovanni Stevanin; G Cancel; Alexandra Dürr; H Chneiweiss; O Dubourg; Jean Weissenbach; H M Cann; Yves Agid; Alexis Brice
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.
American journal of human genetics 1995;56(1):193-201.
1995: Dominique Campion; Alexis Brice; Didier Hannequin; Sandrine Tardieu; Bruno Dubois; A Calenda; E Brun; C Penet; J Tayot; M Martinez
A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization.
Neurology 1995;45(1):80-5.
1995: Alexandra Dürr; Alexis Brice; A Lepage-Lezin; G Cancel; Didier Smadja; JC Vernant; Yves Agid
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
Clinical neuroscience (New York, N.Y.) 1995;3(1):12-6.
1994: Riadh Gouider; Eric LeGuern; J Emile; Sandrine Tardieu; F Cabon; M Samid; Jean Weissenbach; Yves Agid; Pierre Bouche; Alexis Brice
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.
Neurology 1994;44(12):2250-2.
1994: A Dürr; Alexis Brice
[Cerebellar ataxia with autosomal dominant transmission].
Revue neurologique 1994;150(10):661-3.
1994: E Le Guern; N Ravise; M Gugenheim; A Vignal; C Penet; Pierre Bouche; Jean Weissenbach; Yves Agid; Alexis Brice
Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.
Neuromuscular disorders : NMD 1994;4(5-6):463-9.
1994: Samir Belal; G Cancel; Giovanni Stevanin; Faycal Hentati; C Khati; Christiane Ben Hamida; Georg Auburger; Yves Agid; Mongi Ben Hamida; Alexis Brice
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.
Neurology 1994;44(8):1423-6.
1994: Alexandra Dürr; Alexis Brice; M Serdaru; G Rancurel; C Derouesné; Olivier Lyon-Caen; Yves Agid; B Fontaine
The phenotype of "pure" autosomal dominant spastic paraplegia.
Neurology 1994;44(7):1274-7.
1994: P Mazzetti; E Le Guern; Anne-Marie Bonnet; M Vidailhet; Alexis Brice; Yves Agid
Familial Parkinson's disease and polymorphism at the CYP2D6 locus.
Journal of neurology, neurosurgery, and psychiatry 1994;57(7):871-2.
1994: F Rodius; F Duclos; K Wrogemann; D Le Paslier; P Ougen; A Billault; Samir Belal; C Musenger; Alexis Brice; Alexandra Dürr
Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.
American journal of human genetics 1994;54(6):1050-9.
1994: Ali Benomar; E Le Guern; Alexandra Dürr; H Ouhabi; Giovanni Stevanin; Mohamed Yahyaoui; Taïeb Chkili; Yves Agid; Alexis Brice
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
Annals of neurology 1994;35(4):439-44.
1994: G Cancel; Alexandra Dürr; Giovanni Stevanin; H Chneiweiss; Charles Duyckaerts; M Serdaru; B de Toffol; Yves Agid; Alexis Brice
Is DRPLA also linked to 14q?
Nature genetics 1994;6(1):8.
1993: Alexandra Dürr; H Chneiweiss; C Khati; Giovanni Stevanin; G Cancel; J Feingold; Yves Agid; Alexis Brice
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.
Brain : a journal of neurology 1993;116 ( Pt 6)():1497-508.
1993: Alexandra Dürr; Giovanni Stevanin; C P Jedynak; C Penet; Yves Agid; Alexis Brice
Familial essential tremor and idiopathic torsion dystonia are different genetic entities.
Neurology 1993;43(11):2212-4.
1993: Catherine Dodé; Alexandra Dürr; Christophe Pêcheux; J F Mouret; Samir Belal; L Bachner; Yves Agid; Jean-Claude Kaplan; Alexis Brice; J Feingold
Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1993;316(11):1374-80.
1993: Giovanni Stevanin; H Chneiweiss; E Le Guern; N Ravise; Alexandra Dürr; C Penet; Yves Agid; Alexis Brice
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.
Human molecular genetics 1993;2(9):1483-5.
1993: G Cancel; C Khati; Giovanni Stevanin; J C Pages; Yves Agid; Alexis Brice; H M Cann
Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
Human molecular genetics 1993;2(9):1477-9.
1993: Suzana Gispert; R Twells; G Orozco; Alexis Brice; J Weber; L Heredero; K Scheufler; B Riley; R Allotey; C Nothers
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
Nature genetics 1993;4(3):295-9.
1993: C Khati; Giovanni Stevanin; A Durr; H Chneiweiss; Samir Belal; A Seck; H Cann; Alexis Brice; Yves Agid
Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.
Neurology 1993;43(6):1131-7.
1993: D Carter; Dominique Campion; Thierry d'Amato; M Jay; Alexis Brice; M Bellis; J Mallet; Yves Agid
No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients.
Human molecular genetics 1993;2(3):321.
1993: Alexis Brice; A L Boch; Giovanni Stevanin; C Khati; Bruno Dubois; Yves Agid; Dominique Campion; F Clerget; J Mallet; M Bellis
Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.
Journal of neurology, neurosurgery, and psychiatry 1993;56(1):112-3.
1993: Giorgio Sirugo; Sergio Cocozza; Alexis Brice; F Cavalcanti; Giuseppe De Michele; I Dones; Alessandro Filla; Michel Koenig; D Lorenzetti; Antonella Monticelli
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.
European journal of human genetics : EJHG 1993;1(2):133-43.
1992: M Gentil; H Devanne; Bernard MATON; Alexis Brice
Electromyographic recording of the jaw reflex in Friedreich ataxia.
Electromyography and clinical neurophysiology 1992;32(12):591-5.
1992: D A Carter; E Desmarais; M Bellis; D Campion; F Clerget-Darpoux; Alexis Brice; Yves Agid; A Jaillard-Serradt; J Mallet
More missense in amyloid gene.
Nature genetics 1992;2(4):255-6.
1992: Alexis Brice; Nicole Ravisé; Giovanni Stevanin; M Gugenheim; Pierre Bouche; C Penet; Yves Agid
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
Journal of medical genetics 1992;29(11):807-12.
1992: O Strada; Sheela Vyas; Etienne C Hirsch; Merle Ruberg; Alexis Brice; Yves Agid; France Javoy-Agid
Decreased choline acetyltransferase mRNA expression in the nucleus basalis of Meynert in Alzheimer disease: an in situ hybridization study.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(20):9549-53.
1992: D Morvan; M Komajda; L D Doan; Alexis Brice; R Isnard; A Seck; P Lechat; Yves Agid; Y Grosgogeat
Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study.
European heart journal 1992;13(10):1393-8.
1991: Alexis Brice; Jacques Mallet
[Molecular genetics: a new approach of clinical neurosciences].
Revue neurologique 1991;147(1):1-16.
1991: Evani Viegas-Péquignot; S Berrard; Alexis Brice; Françoise Apiou; J Mallet
Localization of a 900-bp-long fragment of the human choline acetyltransferase gene to 10q11.2 by nonradioactive in situ hybridization.
Genomics 1991;9(1):210-2.
1990: O Cohen-Haguenauer; Alexis Brice; S Berrard; V C Nguyen; J Mallet; J Frézal
Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10.
Genomics 1990;6(2):374-8.
1990: Merle Ruberg; W Mayo; Alexis Brice; Charles Duyckaerts; JEAN-JACQUES HAUW; H Simon; M LeMoal; Yves Agid
Choline acetyltransferase activity and [3H]vesamicol binding in the temporal cortex of patients with Alzheimer's disease, Parkinson's disease, and rats with basal forebrain lesions.
Neuroscience 1990;35(2):327-33.