Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations-Reference-Cited by-同舟云学术

Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations

Published:2021-04-06 Issue:6 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Kim Hye Jin¹²^ORCID,Nam Soo Hyun²^ORCID,Kwon Hye Mi²,Lim Si On³^ORCID,Park Jae Hong²,Kim Hyun Su⁴^ORCID,Kim Sang Beom⁵^ORCID,Lee Kyung Suk⁶^ORCID,Lee Ji Eun¹⁷^ORCID,Choi Byung‐Ok¹²⁷^ORCID,Chung Ki Wha³^ORCID

Affiliation:

1. Department of Health Sciences and Technology SAIHSTSungkyunkwan University Seoul Korea

2. Department of Neurology Samsung Medical CenterSungkyunkwan University School of Medicine Seoul Korea

3. Department of Biological Sciences Kongju National University Gongju Korea

4. Department of Radiology Samsung Medical CenterSungkyunkwan University School of Medicine Seou Korea

5. Department of Neurology Kyung Hee University Hospital at GangdongKyung Hee University School of Medicine Seoul Korea

6. Department of Physics Education Kongju National University Gongju Korea

7. Stem Cell & Regenerative Medicine Institute Samsung Medical Center Seoul Korea

Funder

National Research Foundation of Korea

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1678

Reference53 articles.

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2. Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations;Chang E. H.;International Journal of Molecular Medicine,2019

3. MPZ mutation in an early‐onset Charcot‐Marie‐Tooth disease type 1B family by genome‐wide linkage analysis;Choi B. O.;International Journal of Molecular Medicine,2011

4. Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patients

5. Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

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1. Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients;European Journal of Neurology;2023-02-05

2. INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis;Journal of the Peripheral Nervous System;2023-01-20

3. MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes;Journal of Electrodiagnosis and Neuromuscular Diseases;2022-12-31

4. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients;Genes;2022-07-08

5. Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients;Frontiers in Neurology;2021-12-02