Marie‐Josée Dicaire

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Vafa Bayat, Isabelle Thiffault, Manish Jaiswal et al. · PLoS Biology · 2012 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response

Carlo Wilke, David Pellerin, David Mengel et al. · Brain · 2023 · 114 citations

Medicine, Neurology, Neuroscience +13

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

Hugo Lavoie, François Debeane, Quoc‐Dien Trinh et al. · Human Molecular Genetics · 2003 · 111 citations · Full text

Life Sciences, Biology, Genetics +11

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

Antoine Duquette, Katel Roddier, Julia McNabb‐Baltar et al. · Annals of Neurology · 2005 · 106 citations · Full text

Life Sciences, Genetics, Neurology +15