Associated Papers
Long-Term Survival in Brown-Vialetto-Van Laere Syndrome: A Case Report Highlighting Respiratory Care.
Lourenço J et al.
Cureus, 2025
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A et al.
Brain : a Journal of Neurology, 2017
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome.
Bashford JA et al.
Practical Neurology, 2017
Recent advances in bulbar syndromes: genetic causes and disease mechanisms.
Manole A et al.
Current Opinion in Neurology, 2014
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
Ciccolella M et al.
Neuromuscular Disorders : Nmd, 2012
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM et al.
Orphanet Journal of Rare Diseases, 2012
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
Dezfouli MA et al.
Journal of Human Genetics, 2012
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Green P et al.
American Journal of Human Genetics, 2010
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