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
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.
Xie Y et al.
Frontiers in Neurology, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
Tan CA et al.
American Journal of Medical Genetics. Part A, 2016
Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.
Piscosquito G et al.
Journal of the Peripheral Nervous System : Jpns, 2015
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
Carr AS et al.
Journal of the Peripheral Nervous System : Jpns, 2015
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
Polke JM et al.
Neurology, 2011
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