Benoît Funalot
Université Paris-Est Créteil(FR)Centre Hospitalier Universitaire Henri-Mondor(FR)Hôpitaux Universitaires Henri-Mondor(FR)Hôpital Intercommunal de Créteil(FR)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Amyloidosis: Diagnosis, Treatment, Outcomes, Hereditary Neurological Disorders, Neurological diseases and metabolism, Parathyroid Disorders and Treatments
Most-Cited Works
- → Genetic diagnosis of Mendelian disorders via RNA sequencing(2017)584 cited
- → Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V(2003)559 cited
- → INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy(2011)282 cited
- → Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome(2009)226 cited
- → A functional variant of the dopamine D 3 receptor is associated with risk and age-at-onset of essential tremor(2006)187 cited
- → Causes of death amongst French patients with amyotrophic lateral sclerosis: a prospective study(2008)175 cited