SCA13 causes dominantly inherited non-progressive myoclonus ataxia

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Michael F. Waters, Natali A. Minassian, Giovanni Stévanin et al. · Nature Genetics · 2006 · 313 citations

Life Sciences, Genetics, Neuroscience +12

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Claire Redin, Stéphanie Le Gras, O. M'hamdi et al. · Journal of Medical Genetics · 2012 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

Karla P. Figueroa, Natali A. Minassian, Giovanni Stévanin et al. · Human Mutation · 2009 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation in the Catalytic Domain of Protein Kinase C γ and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14

Giovanni Stévanin, Valérie Hahn, Ebba Lohmann et al. · Archives of Neurology · 2004 · 93 citations

Life Sciences, Genetics, Neurology +17

VaRank: a simple and powerful tool for ranking genetic variants

Véronique Geoffroy, Cécile Pizot, Claire Redin et al. · PeerJ · 2015 · 81 citations · Full text

Life Sciences, Bioinformatics, Genetics +17