Bernard Échenne

Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations

Françoise Bergametti, Christian Denier, Pierre Labauge et al. · The American Journal of Human Genetics · 2004 · 444 citations · Full text

Neurology, Neuropathology, Medicine +2

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

Philippe Coubes, Laura Cif, Hassan El Fertit et al. · Journal of neurosurgery · 2004 · 405 citations

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

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

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 262 citations · Full text

Levodopa-responsive dystonia

Alexandra Dürr, Roger Gil, Marie Vidailhet et al. · Brain · 2000 · 191 citations · Full text

Parkin Gene, Mendelian Disorder, Splice Site Mutation +7