Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20-Reference-Cited by-同舟云学术

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

Published:2020-09-24 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Maia Nuno,Soares Gabriela,Silva Cecília,Marques Isabel,Rodrigues Bárbara,Santos Rosário,Melo-Pires Manuel,de Brouwer Arjan PM,Temudo Teresa,Jorge Paula

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference36 articles.

1. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.;Akizu;Nat. Genet.,2015

2. Exome sequencing identifies a novel sorting nexin 14 gene mutation causing cerebellar atrophy and intellectual disability.;Al-Hashmi;Case Rep. Genet.,2018

3. Protein coding genes as hosts for noncoding RNA expression.;Boivin;Semin. Cell Dev. Biol.,2018

4. SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.;Bryant;Hum. Mol. Genet.,2018

5. Mechanisms underlying structural variant formation in genomic disorders.;Carvalho;Nat. Rev. Genet.,2016

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1. Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20;Frontiers in Genetics;2024-04-09

2. Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl;American Journal of Medical Genetics Part A;2022-02-23

3. Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14;Journal of Genetic Medicine;2021-12-31