Associated Papers
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Ando M et al.
Annals of Clinical and Translational Neurology, 2026
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
40121276 (PubMed )
Supplement: 41598_2025_93702_MOESM1_ESM.pdf
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.
Comella M et al.
Case Reports in Pediatrics, 2022
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
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
28660751 (PubMed )
Supplement: JNS-22-191-s002.pdf
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.
Schreiber S et al.
Muscle & Nerve, 2013
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K et al.
Brain : a Journal of Neurology, 2006
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Engelfried K et al.
Bmc Medical Genetics, 2006
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