Associated Papers
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
37595558 (PubMed )
Supplement: mmc1.pdf
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
33415332 (PubMed )
Supplement: awaa323_supplementary_data.zip › awaa323-suppl_data › brain-2020-01188-File006.pdf
[A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease].
Xu JL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M et al.
Journal of the Peripheral Nervous System : Jpns, 2017
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