Benoît Funalot

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 597 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 566 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

<i>INF2</i>Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Olivia Boyer, Fabien Névo, Emmanuelle Plaisier et al. · New England Journal of Medicine · 2011 · 284 citations · Full text

Medicine, Molecular Genetics, Neurology +15

A functional variant of the dopamine D ₃ receptor is associated with risk and age-at-onset of essential tremor

Freddy Jeanneteau, Benoît Funalot, Joseph Jankovic et al. · Proceedings of the National Academy of Sciences · 2006 · 187 citations · Full text

Life Sciences, Genetics, Neurology +17

Causes of death amongst French patients with amyotrophic lateral sclerosis: a prospective study

J. Gil, Benoît Funalot, Annie Verschueren et al. · European Journal of Neurology · 2008 · 177 citations

Medicine, Neurology, Neuroscience +11