Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management-Reference-Cited by-同舟云学术

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Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management

Published:2006-02 Issue:2 Volume:8 Page:86-92
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Szigeti Kinga,Garcia Carlos A,Lupski James R

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference37 articles.

1. Charcot-Marie-Tooth peripheral neuropathies and related disorders;Lupski;The Metabolic and Molecular Bases of Inherited Diseases,2001

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1. Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage;International Journal of Biological Macromolecules;2024-10

2. An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review;Gene;2023-10

3. The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1;Cureus;2023-01-12

4. Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease;Neural Regeneration Research;2023

5. Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease;Brain and Behavior;2022-08-08

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