Associated Papers
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.
Hikiami R et al.
Journal of Human Genetics, 2018
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.
Kawarai T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
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
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
Polke JM et al.
Neurology, 2011
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