Emeline Mundwiller

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Saeko Ishida, Fabienne Picard, Gabrielle Rudolf et al. · Nature Genetics · 2013 · 253 citations · Full text

Medicine, Genetics, Neurogenetics +1

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 · 194 citations · Full text

Genetics, Genomic Mechanism, Molecular Biology +19

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 · 178 citations · Full text

Medicine, Physiology, Ganglioside Biosynthesis Responsible +7

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 · 165 citations · Full text

Motor Neuron Defects, Neurological Disorder, Degenerative Disease +8

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 · 153 citations · Full text

Biology, Mendelian Disorder, Kif1a Missense Mutations +8