Associated Papers
The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
Zaman M et al.
Frontiers in Cell and Developmental Biology, 2022
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
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
Beręsewicz M et al.
Scientific Reports, 2018
30442897 (PubMed )
Supplement: 41598_2018_35133_MOESM1_ESM.docx
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.
Li LX et al.
Oncotarget, 2016
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 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
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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