Gabrielle Rudolf

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau et al. · Nature Genetics · 2013 · 441 citations

Medicine, Neurology, Neuroscience +17

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi, Carol Dobson‐Stone, Justin P. Rubio et al. · Nature Genetics · 2001 · 356 citations

Life Sciences, Cell Biology, Molecular Biology +4

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas R. Langbehn et al. · The Lancet Neurology · 2017 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy

Rita Massa, Anne de Saint Martin, Roberta Carcangiu et al. · Neurology · 2001 · 278 citations

Medicine, Neurology, Neuroscience +16

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 267 citations · Full text

Life Sciences, Genetics, Neuroscience +16