Adult onset Brown–Vialetto–Van Laere syndrome with opsoclonus and a novel heterozygous mutation: A case report

Case report 3

Murray K. Dalinka, R. E. Brennan, Arthur S. Patchefsky · Skeletal Radiology · 1976 · 4.1K citations

Clinical Case Report, Law, Criminal Law +2

Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Annet M. Bosch, N. G. G. M. Abeling, Lodewijk IJlst et al. · Journal of Inherited Metabolic Disease · 2010 · 240 citations · Full text

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Peter Green, Matthew Wiseman, Yanick J. Crow et al. · The American Journal of Human Genetics · 2010 · 195 citations · Full text

Genetic Disorder, Congenital Disorders, Progressive Supranuclear Palsy +6

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