Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT 2A neuropathy
Author:
Affiliation:
1. Aix Marseille University CNRS IBDM Marseille France
2. University of Bordeaux CNRS Institut de Biochimie et Génétique Cellulaires (IBGC), UMR 5095 Bordeaux France
Funder
AFM-Téléthon
Agence Nationale de la Recherche
National Institutes of Health
Publisher
EMBO
Subject
Genetics,Molecular Biology,Biochemistry
Link
https://onlinelibrary.wiley.com/doi/pdf/10.15252/embr.201745241
Reference71 articles.
1. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
2. MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives
3. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
4. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
5. Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
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