Emeline Mundwiller

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Saeko Ishida, Fabienne Picard, Gabrielle Rudolf et al. · Nature Genetics · 2013 · 258 citations · Full text

Medicine, Genetics, Molecular Genetics +10

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

Mikołaj Słabicki, Mirko Theis, Dragomir B. Krastev et al. · PLoS Biology · 2010 · 195 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schüle, José Leal Loureiro et al. · The American Journal of Human Genetics · 2013 · 181 citations · Full text

Medicine, Neurology, Neuroscience +12

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets et al. · The American Journal of Human Genetics · 2013 · 171 citations · Full text

Life Sciences, Genetics, Neurology +10

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe, Alexander Lossos, Hamid Azzedine et al. · European Journal of Human Genetics · 2012 · 157 citations

Life Sciences, Genetics, Neurology +10