ATP1A1mutations cause intermediate Charcot‐Marie‐Tooth disease-Reference-Cited by-同舟云学术

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ATP1A1mutations cause intermediate Charcot‐Marie‐Tooth disease

Published:2019-08-23 Issue:12 Volume:40 Page:2334-2343
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

He Jin¹²,Guo Lingling¹,Lin Shan¹,Chen Wenfeng³,Xu Guorong¹,Cai Bin¹²,Xu Liuqing¹,Hong Jingmei¹,Qiu Liangliang¹,Wang Ning¹²,Chen Wanjin¹²^ORCID

Affiliation:

1. Department of Neurology and Institute of Neurology, First Affiliated HospitalFujian Medical University Fuzhou China

2. Fujian Key Laboratory of Molecular NeurologyFujian Medical University Fuzhou China

3. Institute of Life SciencesFuzhou University Fuzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23886

Reference45 articles.

1. A method and server for predicting damaging missense mutations

2. The paranodal cytoskeleton clusters Na+ channels at nodes of Ranvier

3. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

4. Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes

5. Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism;Annals of Clinical and Translational Neurology;2024-03-19

2. ATP1A1-linked diseases require a malfunctioning protein product from one allele;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2024-01

3. Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures;Neural Regeneration Research;2023-12-21

4. ATP1A1-linked diseases require a malfunctioning protein product from one allele;2023-03-05

5. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease;Journal of Neurology;2023-02-04

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