François Tison

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 306 citations · Full text

Neurodegenerative Diseases, Altered Phosphate Export, Mendelian Disorder +6

McLeod neuroacanthocytosis: Genotype and phenotype

Adrian Danek, Justin P. Rubio, Luca Rampoldi et al. · Annals of Neurology · 2001 · 241 citations

Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia

Anne Ducros, Christian Denier, Anne Joutel et al. · The American Journal of Human Genetics · 1999 · 174 citations · Full text

Neurobiology Of Disease, Progressive Cerebellar Ataxia, Neurology +7

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin et al. · Brain · 2017 · 111 citations · Full text

Neurogenomics, Neurological Disorder, Genetics +23

Oro‐buccal symptoms (dysphagia, dysarthria, and sialorrhea) in patients with Parkinson’s disease: preliminary analysis from the French COPARK cohort

Santiago Perez‐Lloret, Laurence Nègre‐Pagès, Ana Ojero-Senard et al. · European Journal of Neurology · 2011 · 95 citations