Patrick Calvas

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Alexandra Herman-Bert, Giovanni Stévanin, J C Netter et al. · The American Journal of Human Genetics · 2000 · 159 citations · Full text

Life Sciences, Genetics, Neurology +14

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Marie Coutelier, Monia Hammer, Giovanni Stévanin et al. · JAMA Neurology · 2018 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

Marie Claire Vincent, Valérie Biancalana, Danièle Ginisty et al. · European Journal of Human Genetics · 2001 · 105 citations

Life Sciences, Genetics, Molecular Genetics +13

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Dürr et al. · Brain · 2015 · 104 citations · Full text

Life Sciences, Genetics, Neurology +17

Delayed‐onset Friedreich's ataxia revisited

Claire Lecocq, Perrine Charles, Jean‐Philippe Azulay et al. · Movement Disorders · 2015 · 71 citations

Medicine, Neurology, Neuroscience +13