A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene-Reference-Cited by-同舟云学术

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A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene

Published:2022 Issue:2 Volume:18 Page:244
ISSN:1738-6586
Container-title:Journal of Clinical Neurology
language:en
Short-container-title:J Clin Neurol

Author:

Choi Ko-Eun¹^ORCID,Yim Jisook²³^ORCID,Kim Myungshin²³^ORCID,Lee Jung Hwan¹^ORCID

Affiliation:

1. Department of Neurology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

2. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

3. Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Publisher

Korean Neurological Association

Subject

Neurology (clinical),Neurology

Link

https://thejcn.com/pdf/10.3988/jcn.2022.18.2.244

Reference5 articles.

2. Clinical and Electrophysiological Features in Charcot-Marie-Tooth Disease With Mutations in the NEFL Gene

3. Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing

4. Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

5. Axonal Charcot-Marie-Tooth disease: The fog is slowly lifting!

Cited by 2 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. Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes;Journal of Neuromuscular Diseases;2024-04-30

2. Anesthetic Considerations for Patients with Hereditary Neuropathy with Liability to Pressure Palsies: A Narrative Review;Healthcare;2024-04-19

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