Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14-Reference-Cited by-同舟云学术

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Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

Published:2021-12-31 Issue:2 Volume:18 Page:127-131
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Kim Ae Ryoung¹^ORCID,Lee Jong-Mok²^ORCID,Seo Go Hun³^ORCID,Lee Sang In⁴^ORCID,Bae Hyunwoo⁴^ORCID,Lee Yun Jeong⁴^ORCID

Affiliation:

1. Department of Rehabilitation Medicine, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea

2. Department of Neurology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea

3. 3billion, Inc., Seoul, Korea

4. Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea

Funder

National Research Foundation of Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2021/018/JGM018-02-127.pdf

Reference11 articles.

1. Sorting out the cellular functions of sorting nexins

2. The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

3. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

4. Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

5. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

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