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Giovanni Stevanin

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José Leal Loureiro; Leonor Miller-Fleming; Jorge Pinto-Basto; Luis Ruano; Jorge Sequeiros; Isabel Silveira; Giovanni Stevanin; Carolina Thieleke-Matos; Isabel Alonso; Mafalda Barbosa; Ana F Brandão; Eva Brandão; Vitor Tedim Cruz; Ana M Lopes; Paula Coutinho
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
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.
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.

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All Publications

2013: José Leal Loureiro; Leonor Miller-Fleming; Jorge Pinto-Basto; Luis Ruano; Jorge Sequeiros; Isabel Silveira; Giovanni Stevanin; Carolina Thieleke-Matos; Isabel Alonso; Mafalda Barbosa; Ana F Brandão; Eva Brandão; Vitor Tedim Cruz; Ana M Lopes; Paula Coutinho
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
JAMA neurology 2013;70(4):481-7.
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: 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: Katherine E Hekman; April Peterson; Stefan M Pulst; Giovanni Stevanin; DAG UNDLIEN; Kevin P White; Guo-Yun Yu; Haipeng Zhu; Thomas D Bird; Christopher D Brown; H Brent Clark; Xiaofei Du; Kristina Gervin; Christopher M Gomez
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Human molecular genetics 2012;21(26):5472-83.
2012: Yi-Chung Lee; Jun Z Li; Cheng-Chang Lien; Tze-Tze Liu; Yu-Chao Liu; Yi-Chun Lu; Karen Majczenko; Marie-Lorraine Monin; Emeline Mundwiller; Vikram Shakkottai; Alexis Brice; Margit Burmeister; Ming-Yi Chung; Alexandra Durr; Jun Goto; Yen-Hua Huang; Yaeko Ichikawa; Giovanni Stevanin; Christelle Tesson; Pei-Chien Tsai; Shoji Tsuji; Bing-Wen Soong
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Annals of neurology 2012;72(6):859-69.
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: 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: Claudia Dufke; Andreas Gal; Jan Kassubek; Stephan Klebe; Sven Klimpe; Thomas Klopstock; Susanne Otto; Sven Poths; Nina Schlipf; Ludger Schöls; Rebecca Schüle; Andrea Seibel; Giovanni Stevanin; Henning Stolze; Michaela Auer-Grumbach; Michael Bonin; Christel Depienne; Peter Bauer
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Neurogenetics 2012;13(3):215-27.
2012: Josef Finsterer; Wolfgang Löscher; Stefan Quasthoff; Michaela Auer-Grumbach; Julia Wanschitz; Giovanni Stevanin
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Journal of the neurological sciences 2012;318(1-2):1-18.
2012: Sandra Martins; António Amorim; Paula Coutinho; Paola Giunti; Laura P W Ranum; Olaf Riess; Hidenao Sasaki; Jorge Sequeiros; Bing-Wen Soong; Giovanni Stevanin; Shoji Tsuji; Virginia C N Wong; Garth A Nicholson
Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.
Archives of neurology 2012;69(6):746-51.
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: 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: 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: Giovanni Stevanin; Alexandra Dürr
Spinocerebellar ataxia 13 and 25.
Handbook of clinical neurology 2012;103():549-53.
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: 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: 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: Mike Cleeter; Henry Houlden; Paul Simons; Raya Al-Shawi; Giovanni Stevanin; Alexandra Durr; Justin Hsuan; Thomas T Warner
Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2011;12(2):148-9.
2011: Bernard Puech; Arnaud Lacour; Giovanni Stevanin; Bruno G Sautiere; David Devos; Christel Depienne; Elodie Denis; Emeline Mundwiller; Didier Ferriby; Patrick Vermersch; Sabine Defoort-Dhellemmes
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Ophthalmology 2011;118(3):564-73.
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: 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: Nina A Schlipf; Christian Beetz; Rebecca Schüle; Giovanni Stevanin; Anne Kjersti Erichsen; Sylvie Forlani; Cécile Zaros; Kathrin Karle; Stephan Klebe; Sven Klimpe; Alexandra Durr; Susanne Otto; Chantal M E Tallaksen; Olaf Riess; Alexis Brice; Peter Bauer; Ludger Schöls
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
European journal of human genetics : EJHG 2010;18(9):1065-7.
2010: Sandra Thier; Delia Lorenz; Michael Nothnagel; Giovanni Stevanin; Alexandra Dürr; Almut Nebel; Stefan Schreiber; Gregor Kuhlenbäumer; Günther Deuschl; Stephan Klebe
LINGO1 polymorphisms are associated with essential tremor in Europeans.
Movement disorders : official journal of the Movement Disorder Society 2010;25(6):717-23.
2010: Paola S Denora; Knut Brockmann; Marianna Ciccolella; Jeremy Truchetto; Giovanni Stevanin; Filippo M Santorelli
Identification of a de novo mutation in SPG11.
Movement disorders : official journal of the Movement Disorder Society 2010;25(4):501-3.
2010: Karla P Figueroa; Natali A Minassian; Giovanni Stevanin; Michael Waters; Vartan Garibyan; Sylvie Forlani; Adam Strzelczyk; Katrin Bürk; Alexis Brice; Alexandra Dürr; Diane M Papazian; Stef pulst
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Human mutation 2010;31(2):191-6.
2010: Mikołaj Słabicki; Mirko Theis; Dragomir B Krastev; Sergey Samsonov; Emeline Mundwiller; Magno Junqueira; Maciej Paszkowski-Rogacz; Joan Teyra; Anne-Kristin Heninger; Ina Poser; Fabienne Prieur; Jérémy Truchetto; Christian Confavreux; Cécilia Marelli; Alexandra Durr; Jean Philippe Camdessanche; Alexis Brice; Andrej Shevchenko; M Teresa Pisabarro; Giovanni Stevanin; Frank Buchholz
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
PLoS biology 2010;8(6):e1000408.
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: 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: Alessandra Terracciano; Carlo Casali; Gaetano S Grieco; Daniela Orteschi; Silvia Di Giandomenico; Laura Seminara; Roberto Di Fabio; Rosalba Carrozzo; Alessandro Simonati; Giovanni Stevanin; Marcella Zollino; Filippo M Santorelli
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Neurogenetics 2009;10(2):151-5.
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: 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: 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.
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: 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: 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: 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: Cécile Saint-Martin; Delphine Bouteiller; Giovanni Stevanin; Cyprian Popescu; Céline Charon; Merle Ruberg; Stéphanie Baulac; Eric LeGuern; Pierre Labauge; Christel Depienne
Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.
Neurogenetics 2008;9(1):69-71.
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.
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: Roberto Del Bo; Alessio Di Fonzo; Serena Ghezzi; Federica Locatelli; Giovanni Stevanin; Antonella Costa; Stefania Corti; Nereo Bresolin; Giacomo P Comi
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Neurogenetics 2007;8(4):301-5.
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: 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: 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: 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: 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: 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: 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.
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: 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: 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: 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: 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: 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: 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.
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: 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: 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: 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: 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: 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: 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: 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: 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.
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: 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: 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: Giovanni Stevanin; Alexandra Dürr; Alexis Brice
Spinocerebellar ataxias caused by polyglutamine expansions.
Advances in experimental medicine and biology 2002;516():47-77.
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: 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: 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.
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: 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: 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.
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: Giovanni Stevanin; A Herman; Alexis Brice; Alexandra Dürr
Clinical and MRI findings in spinocerebellar ataxia type 5.
Neurology 1999;53(6):1355-7.
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: 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: Martin Dichgans; L Schöls; Jürgen Herzog; Giovanni Stevanin; H Weirich-Schwaiger; G Rouleau; Katrin Bürk; Thomas Klockgether; Christine Zühlke; Franco Laccone; Olaf Riess; Thomas Gasser
Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families.
Neurology 1999;52(4):849-51.
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: 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: 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: 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.
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: 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: Katrin Bürk; Michael Fetter; Martin Skalej; Franco Laccone; Giovanni Stevanin; Johannes Dichgans; Thomas Klockgether
Saccade velocity in idiopathic and autosomal dominant cerebellar ataxia.
Journal of neurology, neurosurgery, and psychiatry 1997;62(6):662-4.
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: 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: 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: 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.
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: 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: 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: 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: 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.
1995: Alexandra Dürr; Didier Smadja; G Cancel; Agnes Lezin; Giovanni Stevanin; Jacqueline Mikol; R Bellance; G G Buisson; H Chneiweiss; J Dellanave
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Brain : a journal of neurology 1995;118 ( Pt 6)():1573-81.
1995: Yvon Trottier; Yves Lutz; Giovanni Stevanin; G Imbert; Didier Devys; G Cancel; Frédéric Saudou; C Weber; G David; Làszlò Tora
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
Nature 1995;378(6555):403-6.
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: 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: G Cancel; Nacer Abbas; Giovanni Stevanin; Alexandra Dürr; H Chneiweiss; C Néri; Charles Duyckaerts; C Penet; H M Cann; Yves Agid
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.
American journal of human genetics 1995;57(4):809-16.
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: Ali Benomar; Luc Krols; Giovanni Stevanin; G Cancel; Eric LeGuern; G David; H Ouhabi; Jean-Jacques Martin; Alexandra Dürr; A Zaim
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
Nature genetics 1995;10(1):84-8.
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: 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: Bertrand Fontaine; C S Rime; Jamilé Hazan; Alexandra Dürr; Giovanni Stevanin; C Penet; J Reboul; Yves Agid; Olivier Lyon-Caen; N Baumann
Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia.
Neuromuscular disorders : NMD 1995;5(1):11-7.
1994: Giovanni Stevanin; P S Sousa; G Cancel; Alexandra Dürr; O Dubourg; G A Nicholson; Jean Weissenbach; E Jardim; Yves Agid; E Cassa
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.
Neurobiology of disease 1994;1(1-2):79-82.
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: 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: Giovanni Stevanin; E Le Guern; Nicole Ravisé; H Chneiweiss; Alexandra Dürr; G Cancel; A Vignal; A L Boch; Merle Ruberg; C Penet
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
American journal of human genetics 1994;54(1):11-20.
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: 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: 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: 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.
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.