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

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

(2010) Janel O. Johnson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

(2010) Gladys Ho et al.   HUMAN MUTATION

Novel genomic techniques open new avenues in the analysis of monogenic disorders

(2010) Gregor Kuhlenbäumer et al.   HUMAN MUTATION

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

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification and Comparative Functional Characterization of a New Human Riboflavin Transporter hRFT3 Expressed in the Brain

(2010) Yoshiaki Yao et al.   JOURNAL OF NUTRITION

Brown-Vialetto-Van Laere syndrome

(2008) Sivakumar Sathasivam   Orphanet Journal of Rare Diseases

Genomewide SNP assay reveals mutations underlying Parkinson disease

(2007) Javier Simon-Sanchez et al.   HUMAN MUTATION