Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations-Reference-Cited by-同舟云学术

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Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Published:2012-12-14 Issue:2 Volume:50 Page:104-107
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Ciccolella Marianna,Corti Stefania,Catteruccia Michela,Petrini Stefania,Tozzi Giulia,Rizza Teresa,Carrozzo Rosalba,Nizzardo Monica,Bordoni Andreina,Ronchi Dario,D'Amico Adele,Rizzo Cristiano,Comi Giacomo Pietro,Bertini Enrico

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 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;Frontiers in Genetics;2022-09-15

2. New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement;Biomedicines;2022-06-06

3. Recent advances in riboflavin transporter RFVT and its genetic disease;Pharmacology & Therapeutics;2021-10

4. Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2;IUBMB Life;2021-08-24

5. BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes;Neurobiology of Aging;2021-03

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