A cohort study of Han Chinese MFN2-related Charcot–Marie–Tooth 2A
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference22 articles.
1. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A;Züchner;Nat. Genet.,2004
2. Mutation screening of mitofusin 2 in Charcot–Marie–Tooth disease type 2;Montenegro;J. Neurol.,2011
3. MFN2 mutations cause severe phenotypes in most patients with CMT2A;Feely;Neurology,2011
4. Mutation analysis of MFN2 gene in Chinese patients with Charcot–Marie–Tooth disease;Zhang;Natl. Med. J. China,2009
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1. 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
2. Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction;Nature Chemical Biology;2023-01-12
3. A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model;Journal of Clinical Investigation;2022-12-01
4. Clinical and genetic features of a cohort of patients with MFN2-related neuropathy;Scientific Reports;2022-04-13
5. Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement;Journal of Dr Behcet Uz Children s Hospital;2022-04-11
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