Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance-Reference-Cited by-同舟云学术

Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance

Published:2021-01-05 Issue:3 Volume:28 Page:945-954
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Gayathri Santhalingam¹,Gowda Vykuntaraju K.²,Udhayabanu Tamilarasan¹,O'Callaghan Benjamin³^ORCID,Efthymiou Stephanie³,Varalakshmi Perumal¹,Benakappa Naveen²,Houlden Henry³,Ashokkumar Balasubramaniem¹^ORCID

Affiliation:

1. School of Biotechnology Madurai Kamaraj University Madurai India

2. Department of Pediatric Neurology Indira Gandhi Institute of Child Health Bangalore India

3. Department of Neuromuscular Diseases Institute of Neurology University College London London UK

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14682

Reference23 articles.

1. The Brown-Vialetto-van Laere syndrome: a case report and literature review

2. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

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

4. Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

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

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