Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy-Reference-Cited by-同舟云学术

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Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy

Published:2021-02 Issue:2 Volume:31 Page:149-157
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Shi Jiaying,Zhao Fei,Pang Xiaomin,Huang Shan,Wang Juan,Chang Xueli,Zhang Jing,Liu Yanming,Guo Junhong,Zhang Wei

Funder

ShanXi Science and Technology Department

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. The clinical features of hereditary motor and sensory neuropathy types I and II;Harding;Brain,1980

2. Update on charcot-marie-tooth disease;Gutmann;Curr Opin Neurol,2015

3. New developments in Charcot-Marie-Tooth neuropathy and related diseases;Pareyson;Curr Opin Neurol,2017

4. Sites of regulated phosphorylation that control K-Cl cotransporter activity;Rinehart;Cell,2009

5. Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts;Gagnon;Am J Physiol Cell Physiol,2013

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1. The evolving spectrum of complex inherited neuropathies;Current Opinion in Neurology;2024-07-31

2. Clinical, neurophysiological and genetic characteristics of Charcot-Marie-Tooth from a research center in northern China;Neurology Asia;2024-03

3. A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family;Annals of Clinical and Translational Neurology;2023-09-27

4. Late-onset sensory-motor axonal neuropathy, a novelSLC12A6-related phenotype;Brain;2022-12-21

5. Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease;Annals of Clinical and Translational Neurology;2022-06-22

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