Associated Papers
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Chevrollier A et al.
Brain : a Journal of Neurology, 2024
A dominant negative mitofusin causes mitochondrial perinuclear clusters because of aberrant tethering.
Sloat SR et al.
Life Science Alliance, 2023
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
Choi BO et al.
Clinical Genetics, 2015
Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.
Chung KW et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.
Chung KW et al.
Neuromuscular Disorders : Nmd, 2008
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
Cho HJ et al.
Clinical Genetics, 2007
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