Phenotypic heterogeneity in patients with <i>NEFL</i> ‐related Charcot–Marie

Phenotypic heterogeneity in patients with NEFL ‐related Charcot–Marie–Tooth disease

Published:2022-01-19 Issue:2 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Kim Hye Jin¹²^ORCID,Kim Sang Beom³,Kim Hyun Su⁴,Kwon Hye Mi²,Park Jae Hong²,Lee Ah Jin⁵,Lim Si On⁵,Nam Soo Hyun⁶,Hong Young Bin⁷,Chung Ki Wha⁵^ORCID,Choi Byung‐Ok¹²⁶^ORCID

Affiliation:

1. Department of Health Sciences and Technology SAIHST Sungkyunkwan University Seoul Korea

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

3. Department of Neurology Kyung Hee University Hospital at Gangdong Kyung Hee University School of Medicine Seoul Republic of Korea

4. Department of Radiology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea

5. Department of Biological Sciences Kongju National University Gongju Korea

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

7. Department of Biochemistry College of Medicine Dong‐A University Busan Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1870

Reference40 articles.

1. Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

2. Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

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

4. NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype

5. NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

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

3. Neurofilaments in health and Charcot-Marie-Tooth disease;Frontiers in Cell and Developmental Biology;2023-12-18

4. The CRL3 ^gigaxonin ubiquitin ligase–USP15 pathway governs the destruction of neurofilament proteins;Proceedings of the National Academy of Sciences;2023-10-30

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