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Emeline Mundwiller
Researcher at Centre national de la recherche scientifique
Publications - 27
Citations - 2008
Emeline Mundwiller is an academic researcher from Centre national de la recherche scientifique. The author has contributed to research in topics: Hereditary spastic paraplegia & Cerebellar ataxia. The author has an hindex of 21, co-authored 26 publications receiving 1747 citations. Previous affiliations of Emeline Mundwiller include Pierre-and-Marie-Curie University & French Institute of Health and Medical Research.
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Journal ArticleDOI
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Saeko Ishida,Fabienne Picard,Gabrielle Rudolf,Eric Noé,Eric Noé,Guillaume Achaz,Guillaume Achaz,Guillaume Achaz,Pierre Thomas,Pierre Genton,Emeline Mundwiller,Markus Wolff,Christian Marescaux,Richard B. Miles,Richard B. Miles,Michel Baulac,Michel Baulac,Edouard Hirsch,Eric LeGuern,Eric LeGuern,Stéphanie Baulac,Stéphanie Baulac +21 more
TL;DR: These findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies and the implication of a DEP domain–containing protein that may be involved in membrane trafficking and/or G protein signaling opens new avenues for research.
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A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia
Mikolaj Slabicki,Mirko Theis,Dragomir B. Krastev,Sergey A. Samsonov,Emeline Mundwiller,Emeline Mundwiller,Emeline Mundwiller,Magno Junqueira,Maciej Paszkowski-Rogacz,Joan Teyra,Anne-Kristin Heninger,Ina Poser,Fabienne Prieur,Jeremy Truchetto,Jeremy Truchetto,Jeremy Truchetto,Christian Confavreux,Cecilia Marelli,Alexandra Durr,Jean Philippe Camdessanche,Alexis Brice,Andrej Shevchenko,M. Teresa Pisabarro,Giovanni Stevanin,Frank Buchholz +24 more
TL;DR: A novel gene in a genome-wide, double-strand break DNA repair RNAi screen is identified and shown to be involved in the neurological disease hereditary spastic paraplegia.
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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 Leal Loureiro,Michael A. Gonzalez,Emeline Mundwiller,Tine Deconinck,Marc Wessner,Ludmila Jornea,Ludmila Jornea,Ludmila Jornea,Andrés Caballero Oteyza,Alexandra Durr,Jean Jacques Martin,Ludger Schöls,Chokri Mhiri,Foudil Lamari,Stephan Züchner,Peter De Jonghe,Edor Kabashi,Edor Kabashi,Edor Kabashi,Alexis Brice,Giovanni Stevanin +25 more
TL;DR: The role of ceramide metabolism in HSP pathology is highlighted, with next-generation sequencing in three independent families finding four different mutations in GBA2 (three truncating variants and one missense variant) found to cosegregate with the disease and were absent in controls.
Journal ArticleDOI
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
Amir Boukhris,Amir Boukhris,Rebecca Schüle,José Leal 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,Sylvie Forlani,Sylvie Forlani,Vítor Tedim Cruz,Fanny Mochel,Paula Coutinho,Patrick A. Dion,Patrick A. Dion,Chokri Mhiri,Ludger Schöls,Jean Pouget,Frédéric Darios,Frédéric Darios,Frédéric Darios,Guy A. Rouleau,Wilson Marques,Alexis Brice,Alexandra Durr,Stephan Züchner,Giovanni Stevanin +38 more
TL;DR: Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis, and these findings confirm the increasing interest of lipid metabolism in HSPs.
Journal ArticleDOI
Mutations in KCND3 cause 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 Li,Ming Yi Chung,Emeline Mundwiller,Vikram G. Shakkottai,Tze Tze Liu,Christelle Tesson,Yi-Chun Lu,Alexis Brice,Shoji Tsuji,Margit Burmeister,Giovanni Stevanin,Bing-Wen Soong +21 more
TL;DR: In this article, the causative gene in SCA22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23, was identified.