Associated Papers
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
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain).
Lousa M et al.
Journal of the Peripheral Nervous System : Jpns, 2019
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Dankwa L et al.
Journal of the Peripheral Nervous System : Jpns, 2018
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
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