Publications

Mutations inKCND3cause spinocerebellar ataxia type 22

Yi-Chung Lee - Alexandra Durr - Karen Majczenko - Yen-Hua Huang - Yu-Chao Liu - Cheng-Chang Lien - Pei-Chien Tsai - Yaeko Ichikawa - Jun Goto - Marie-Lorraine Monin - Jun Z. Li - Ming-Yi Chung - Emeline Mundwiller - Vikram Shakkottai - Tze-Tze Liu - Christelle Tesson - Yi-Chun Lu - Alexis Brice - Shoji Tsuji - Margit Burmeister - Giovanni Stevanin - Bing-Wen Soong
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Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin - Rebecca Schüle - Katrien Smets - Agnès Rastetter - Amir Boukhris - José L. Loureiro - Michael A. Gonzalez - Emeline Mundwiller - Tine Deconinck - Marc Wessner - Ludmila Jornea - Andrés Caballero Oteyza - Alexandra Durr - Jean-Jacques Martin - Ludger Schöls - Chokri Mhiri - Foudil Lamari - Stephan Züchner - Peter De Jonghe - Edor Kabashi - Alexis Brice - Giovanni Stevanin
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Saeko Ishida - Fabienne Picard - Gabrielle Rudolf - Eric Noé - Guillaume Achaz - Pierre Thomas - Pierre Genton - Emeline Mundwiller - Markus Wolff - Christian Marescaux - Richard Miles - Michel Baulac - Edouard Hirsch - Eric Leguern - Stéphanie Baulac
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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris - Rebecca Schule - José L. Loureiro - Charles Marques Lourenço - Emeline Mundwiller - Michael A. Gonzalez - Perrine Charles - Julie Gauthier - Imen Rekik - Rafael F. Acosta Lebrigio - Marion Gaussen - Fiorella Speziani - Andreas Ferbert - Imed Feki - Andrés Caballero-Oteyza - Alexandre Dionne-Laporte - Mohamed Amri - Anne Noreau - Sylvie Forlani - Vitor T. Cruz - Fanny Mochel - Paula Coutinho - Patrick Dion - Chokri Mhiri - Ludger Schols - Jean Pouget - Frédéric Darios - Guy A. Rouleau - Wilson Marques - Alexis Brice - Alexandra Durr - Stephan Zuchner - Giovanni Stevanin
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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Typhaine Esteves - Alexandra Durr - Emeline Mundwiller - José L. Loureiro - Maxime Boutry - Michael A. Gonzalez - Julie Gauthier - Khalid H. El-Hachimi - Christel Depienne - Marie-Paule Muriel - Rafael F. Acosta Lebrigio - Marion Gaussen - Anne Noreau - Fiorella Speziani - Alexandre Dionne-Laporte - Jean-François Deleuze - Patrick Dion - Paula Coutinho - Guy A. Rouleau - Stephan Zuchner - Alexis Brice - Giovanni Stevanin - Frédéric Darios
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