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5 articles related to "Pmp22 Duplication"

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Articles

Original Research

Published on 06 Jun 2024

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

in Human and Medical Genomics

Olga Shchagina
Aysylu Murtazina
Polina Chausova
Mariya Orlova
Elena Dadali
Sergei Kurbatov
Sergey Kutsev
Aleksander Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2024.1381915

2,324 views
1 citation

Original Research

Published on 08 Nov 2021

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

in Neuromuscular Disorders and Peripheral Neuropathies

Xiaoxuan Liu
Ji He
Mubalake Yilihamu
Xiaohui Duan
Dongsheng Fan

Frontiers in Neurology

doi 10.3389/fneur.2021.733926

7,553 views
23 citations

Original Research

Published on 13 Jul 2023

Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients

in Genetics of Common and Rare Diseases

Yan Ma
Xiaohui Duan
Xiaoxuan Liu
Dongsheng Fan

Frontiers in Genetics

doi 10.3389/fgene.2023.1188361

4,814 views
9 citations

Original Research

Published on 29 Aug 2023

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

in Neuromuscular Disorders and Peripheral Neuropathies

Amokelani C. Mahungu
Elizabeth Steyn
Niki Floudiotis
Lindsay A. Wilson
Jana Vandrovcova
Mary M. Reilly
Christopher J. Record
Michael Benatar
Gang Wu
Sharika Raga

Frontiers in Neurology

doi 10.3389/fneur.2023.1239725

10,813 views
13 citations

Brief Research Report

Published on 28 Jan 2022

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

in Neurogenetics

Yongzhi Xie
Zhiqiang Lin
Xiaobo Li
Lei Liu
Shunxiang Huang
Huadong Zhao
Binghao Wang
Wanqian Cao
Zhengmao Hu
Jifeng Guo

Frontiers in Neurology

doi 10.3389/fneur.2021.736704

4,912 views
8 citations