Amelie Pandraud

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 368 citations

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud et al. · Brain · 2013 · 179 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +14

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Janel O. Johnson, J. Raphael Gibbs, André Mégarbané et al. · Brain · 2012 · 138 citations · Full text

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves et al. · Brain · 2017 · 94 citations · Full text

Riboflavin-responsive Neuropathy, Mitochondrial Dysfunction, Neurological Disorder +16

Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis

J. Barney Bryson, Carl Hobbs, Michael Parsons et al. · Human Molecular Genetics · 2012 · 70 citations · Full text