Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities-Reference-Cited by-同舟云学术

Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities

Published:2021-08 Issue:8 Volume:31 Page:752-755
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Carey Guillaume,Kuchcinski Gregory,Gauvrit Fanny,Defebvre Luc,Nguyen Sylvie,Dhaenens Claire-Marie,Dessein Anne Frédérique,Vianey-Saban Christine,Acquaviva Cécile,Tard Céline

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference8 articles.

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2. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives;Bosch;Orphanet J. Rare. Dis.,2012

3. Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome;Woodcock;Semin. Pediatr. Neurol.,2017

4. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy;Manole;Brain J Neurology,2017

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

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