Associated Papers
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.
Tolomeo M et al.
Archives of Biochemistry and Biophysics, 2026
Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.
Mei C et al.
Frontiers in Cellular Neuroscience, 2025
Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
Marioli C et al.
Cell Death Discovery, 2024
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
Magliocca V et al.
Frontiers in Cellular Neuroscience, 2024
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
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.
Woodcock IR et al.
Seminars in Pediatric Neurology, 2018
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
Allison T et al.
Journal of Child Neurology, 2017
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