A review and analysis of the clinical literature on Charcot–Marie–Tooth disease caused by mutations in neurofilament protein L-Reference-Cited by-同舟云学术

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A review and analysis of the clinical literature on Charcot–Marie–Tooth disease caused by mutations in neurofilament protein L

Published:2021-03 Issue:3 Volume:78 Page:97-110
ISSN:1949-3584
Container-title:Cytoskeleton
language:en
Short-container-title:Cytoskeleton

Author:

Stone Elizabeth J.¹²^ORCID,Kolb Stephen J.³⁴^ORCID,Brown Anthony¹^ORCID

Affiliation:

1. Department of Neuroscience Ohio State University Columbus Ohio USA

2. Neuroscience Graduate Program Ohio State University Columbus Ohio USA

3. Department of Neurology Ohio State University Columbus Ohio USA

4. Department of Biological Chemistry and Pharmacology Ohio State University Columbus Ohio USA

Funder

Charcot-Marie-Tooth Association

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Cell Biology,Structural Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/cm.21676

Reference112 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. Expanding the Phenotype Associated With theNEFLMutation

4. Genetic spectrum of hereditary neuropathies with onset in the first year of life

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

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1. Neurofilament Biophysics: From Structure to Biomechanics;Molecular Biology of the Cell;2024-05-01

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

3. Vimentin filaments integrate low-complexity domains in a complex helical structure;Nature Structural & Molecular Biology;2024-04-17

4. Neurofilaments: Novel findings and future challenges;Current Opinion in Cell Biology;2024-04

5. Editorial: Cytoskeletal alterations in aging and disease;Frontiers in Cell and Developmental Biology;2024-01-08

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