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Christel Depienne

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Florence Riant; Emmanuel Roze; Pascal Sabouraud; Cecile Barbance; Christel Depienne; Lucie Guyant-Maréchal; Christian Lucas; Aurélie Méneret; Agnes Trébuchon; Elisabeth Tournier-Lasserve
PRRT2 mutations cause hemiplegic migraine.
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.
Mercedes Serrano; Agnès Rastetter; Mónica Rebollo; Rafael Artuch; Christel Depienne; Emilio Fernández-Álvarez; Loreto Martorell; Jordi Muchart; José A Obeso; Belén Pérez-Dueñas
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

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2012: Florence Riant; Emmanuel Roze; Pascal Sabouraud; Cecile Barbance; Christel Depienne; Lucie Guyant-Maréchal; Christian Lucas; Aurélie Méneret; Agnes Trébuchon; Elisabeth Tournier-Lasserve
PRRT2 mutations cause hemiplegic migraine.
Neurology 2012;79(21):2122-4.
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: Mercedes Serrano; Agnès Rastetter; Mónica Rebollo; Rafael Artuch; Christel Depienne; Emilio Fernández-Álvarez; Loreto Martorell; Jordi Muchart; José A Obeso; Belén Pérez-Dueñas
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
Movement disorders : official journal of the Movement Disorder Society 2012;27(10):1295-8.
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: Aurélie Méneret; Cyril Mignot; Fabienne Picard; Dominique Steschenko; Christine Tranchant; Marie Vidailhet; Mathieu Anheim; Thierry Billette de Villemeur; Delphine Bouteiller; Alexis Brice; Pierre Burbaud; Christel Depienne; David Devos; Diane Doummar; Alexandra Dürr; Cécile Gaudebout; David Grabli; Domitille Gras; Charles Pierre Jedynak; Isabelle Lagroua; Emmanuel Roze
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Neurology 2012;79(2):170-4.
2012: Christel Depienne; Eric LeGuern
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Human mutation 2012;33(4):627-34.
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: C Nava; D Périsse; A Rastetter; S Whalen; Alexandra Afenjar; T Bourgeron; D Bouteiller; A Brice; S Caillet; D Cohen; R Delorme; C Dupuits; A Faudet; C Gautier; M Gérard; C Gillberg; M Gilleron; Delphine Héron; G Huguet; Aurélia Jacquette; Boris Keren; F Lamari; C Laurent; M Leboyer; B Leheup; Cyril Mignot; Christel Depienne
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Translational psychiatry 2012;2():e179.
2011: Christel Depienne; Alexis Brice
Unlocking the genetics of paroxysmal kinesigenic dyskinesia.
Brain : a journal of neurology 2011;134(Pt 12):3431-4.
2011: Juliette Piard; Oriane Trouillard; Boris Keren; Perrine Charles; Christel Depienne; Estelle Fédirko; Delphine Heron
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
American journal of medical genetics. Part A 2011;155A(12):3170-3.
2011: Cécile Galléa; Aurélie Méneret; Traian Popa; Ségolène Billot; Christel Depienne; Emmanuel Roze
Congenital mirror movements: a clue to understanding bimanual motor control.
Journal of neurology 2011;258(11):1911-9.
2011: Cyril Mignot; Fanny Morice-Picard; Marie-Laure Moutard; Oriane Trouillard; Dorothée Ville; Benoît Arveiler; Perrine Charles; Catherine Chiron; Christel Depienne; Isabelle Gourfinkel-An; Aurélia Jacquette; Didier Lacombe; Eric LeGuern; Delphine Héron
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia 2011;52(10):1820-7.
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: Philippe Couarch; Christel Depienne; Olivier Dulac; Estelle Fedirko; Svetlana Gataullina; Isabelle Gourfinkel-An; Eric LeGuern; Gaëtan Lesca; Pascual Sanz; Dominique Steschenko; Oriane Trouillard; Santiago Vernia; Stéphanie Baulac
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Journal of molecular medicine (Berlin, Germany) 2011;89(9):915-25.
2011: Rima Nabbout; Christel Depienne; Catherine Chiron; Olivier Dulac
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Neurology 2011;76(13):1193-4; author reply 1194.
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.
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.
2011: Christel Depienne; Oriane Trouillard; Delphine Bouteiller; Isabelle Gourfinkel-An; Karine Poirier; François Rivier; Patrick Berquin; Rima Nabbout; Denys Chaigne; Dominique Steschenko; Agnès Gautier; Dorota Hoffman-Zacharska; Annie Lannuzel; Marilyn Lackmy-Port-Lis; Hélène Maurey; Anne Dusser; Marie Bru; Brigitte Gilbert-Dussardier; Agathe Roubertie; Anna Kaminska; Sandra Whalen; Cyril Mignot; Stéphanie Baulac; Gaëtan Lesca; Alexis Arzimanoglou; Eric LeGuern
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Human mutation 2011;32(1):E1959-75.
2010: Hanen Abouda; Yosr Hizem; Amina Gargouri; Christel Depienne; Delphine Bouteiller; Florence Riant; Elisabeth Tournier-Lasserve; Isabelle Gourfinkel-An; Eric LeGuern; Riadh Gouider
Familial form of typical childhood absence epilepsy in a consanguineous context.
Epilepsia 2010;51(9):1889-93.
2010: Christel Depienne; Oriane Trouillard; Isabelle Gourfinkel-An; Cécile Saint-Martin; Delphine Bouteiller; Denis Graber; Marie-Anne Barthez-Carpentier; Agnès Gautier; Nathalie Villeneuve; Charlotte Dravet; Marie-Odile Livet; Clothilde Rivier-Ringenbach; Claude Adam; Sophie Dupont; Stéphanie Baulac; Delphine Héron; Rima Nabbout; Eric LeGuern
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Journal of medical genetics 2010;47(6):404-10.
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: M Chipaux; N Villeneuve; P Sabouraud; I Desguerre; Nathalie Boddaert; Christel Depienne; Catherine Chiron; Olivier Dulac; Rima Nabbout
Unusual consequences of status epilepticus in Dravet syndrome.
Seizure : the journal of the British Epilepsy Association 2010;19(3):190-4.
2010: Rabab Debs; Christel Depienne; Agnès Rastetter; Agnès Bellanger; Bertrand Degos; Damien Galanaud; Boris Keren; Olivier Lyon-Caen; Alexis Brice; Frédéric Sedel
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
Archives of neurology 2010;67(1):126-30.
2009: Rima Nabbout; Christel Depienne; Mathilde Chipaux; Benoit Girard; Isabelle Souville; Oriane Trouillard; Olivier Dulac; Jamel Chelly; Alexandra Afenjar; Delphine Héron; Eric LeGuern; Cherif Beldjord; Thierry Bienvenu; Nadia Bahi-Buisson
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
Epilepsy research 2009;87(1):25-30.
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: Cécile Saint-Martin; Grégory Gauvain; Georgeta Teodorescu; Isabelle Gourfinkel-An; Estelle Fedirko; Yvonne G Weber; Snezana Maljevic; Jan-Peter Ernst; Jennie Garcia-Olivares; Christoph Fahlke; Rima Nabbout; Eric LeGuern; Holger Lerche; Jean Christophe Poncer; Christel Depienne
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Human mutation 2009;30(3):397-405.
2009: Claire Deback; David Boutolleau; Christel Depienne; Charles-Edouard Luyt; Pascale Bonnafous; Agnès Gautheret-Dejean; I Garrigue; Henri Agut
Utilization of microsatellite polymorphism for differentiating herpes simplex virus type 1 strains.
Journal of clinical microbiology 2009;47(3):533-40.
2009: Christel Depienne; Oriane Trouillard; C Saint-Martin; Isabelle Gourfinkel-An; D Bouteiller; W Carpentier; B Keren; B Abert; A Gautier; Stéphanie Baulac; Alexis Arzimanoglou; C Cazeneuve; Rima Nabbout; Eric LeGuern
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Journal of medical genetics 2009;46(3):183-91.
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: Christel Depienne; D Heron; M Leboyer; Eric LeGuern; Oriane Trouillard; Alain Verloes; Baya Benyahia; C Betancur; D Bouteiller; A Brice
Autism, language delay and mental retardation in a patient with 7q11 duplication.
BMJ case reports 2009;2009():.
2008: J El Helou; Vincent Navarro; Christel Depienne; E Fedirko; Eric LeGuern; Michel Baulac; I An-Gourfinkel; Claude Adam
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2008;119(10):2201-4.
2008: Rima Nabbout; Isabelle Desguerre; Sandra Sabbagh; Christel Depienne; Perrine Plouin; Olivier Dulac; Catherine Chiron
An unexpected EEG course in Dravet syndrome.
Epilepsy research 2008;81(1):90-5.
2008: Stéphanie Baulac; Isabelle Gourfinkel-An; Philippe Couarch; Christel Depienne; Anna Kaminska; Olivier Dulac; Michel Baulac; Eric LeGuern; Rima Nabbout
A novel locus for generalized epilepsy with febrile seizures plus in French families.
Archives of neurology 2008;65(7):943-51.
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: 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.
2007: Emmanuel Eugène; Christel Depienne; Stéphanie Baulac; Michel Baulac; Jean-Marc Fritschy; Eric Le Guern; Richard Miles; Jean Christophe Poncer
GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(51):14108-16.
2007: Christel Depienne; Giovanni Stevanin; Alexis Brice; Alexandra Durr
Hereditary spastic paraplegias: an update.
Current opinion in neurology 2007;20(6):674-80.
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: Elodie Chabrol; Isabelle Gourfinkel-An; Ingrid E Scheffer; Fabienne Picard; Philippe Couarch; Samuel F Berkovic; Jacinta M McMahon; Nandita Bajaj; Luisa Mota-vieira; Rui Mota; Oriane Trouillard; Christel Depienne; Michel Baulac; Eric LeGuern; Stéphanie Baulac
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Epilepsy research 2007;76(1):41-8.
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: Myriam Escobar-Khondiker; Matthias Höllerhage; Marie-Paule Muriel; Pierre Champy; Antoine Bach; Christel Depienne; Gesine Respondek; Elizabeth S Yamada; Annie Lannuzel; Takao Yagi; Etienne C Hirsch; Wolfgang H Oertel; Ralf Jacob; Patrick P Michel; Merle Ruberg; Günter U Höglinger
Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(29):7827-37.
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: Alexandre Chojnowski; Nicole Ravisé; Corinne Bachelin; Christel Depienne; Merle Ruberg; Bernard Brugg; Jocelyn Laporte; Anne Baron-Van Evercooren; Eric LeGuern
Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Neurobiology of disease 2007;26(2):323-31.
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: 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: Elodie Chabrol; Cyprian Popescu; Isabelle Gourfinkel-An; Oriane Trouillard; Christel Depienne; Kristen Senechal; Michel Baulac; Eric LeGuern; Stéphanie Baulac
Two novel epilepsy-linked mutations leading to a loss of function of LGI1.
Archives of neurology 2007;64(2):217-22.
2006: Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; Stéphanie Baulac; Cécile Saint-Martin; Merle Ruberg; Charlotte Dravet; Rima Nabbout; Michel Baulac; Isabelle Gourfinkel-An; Eric LeGuern
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Human mutation 2006;27(4):389.
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: 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: 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: 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: Sophie Mourlevat; Thomas Debeir; Juan E Ferrario; Jean Delbe; Daniele Caruelle; Olivier Lejeune; Christel Depienne; José Courty; Rita Raisman-Vozari; Merle Ruberg
Pleiotrophin mediates the neurotrophic effect of cyclic AMP on dopaminergic neurons: analysis of suppression-subtracted cDNA libraries and confirmation in vitro.
Experimental neurology 2005;194(1):243-54.