Associated Papers
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2026
Ocular Biomarkers of Riboflavin Transporter Deficiency.
Bulas S et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023
Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency.
Zhang L et al.
Brain Sciences, 2022
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
Zhao S et al.
Frontiers in Genetics, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
Shi K et al.
Bmc Medical Genetics, 2019
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A et al.
Brain : a Journal of Neurology, 2017
29053833 (PubMed )
Supplement: manole_et_al_si_300817this_3008_awx231.pdf
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR et al.
Brain : a Journal of Neurology, 2014
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