Associated Papers
In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3.
Dilly S et al.
Journal of Chemical Information and Modeling, 2020
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A et al.
Brain : a Journal of Neurology, 2017
Recent advances in bulbar syndromes: genetic causes and disease mechanisms.
Manole A et al.
Current Opinion in Neurology, 2014
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
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
Nabokina SM et al.
Molecular Genetics and Metabolism, 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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