Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
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
[Phenotypic heterogeneity of Charcot-Marie-Tooth type 2A disease associated with the c.1091G>C missense mutation (p.Arg364Pro) in the MFN2 gene].
Alekseeva TM et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2025
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Kulsirichawaroj P et al.
Journal of Neuromuscular Diseases, 2024
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Babu K et al.
Ophthalmic Genetics, 2023
MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant.
Das R et al.
Journal of Cell Science, 2022
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
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
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation.
Takahashi R et al.
Internal Medicine (tokyo, Japan), 2012
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM et al.
Neurology, 2011
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 2011
Leber's optic neuropathy and Charcot-Marie-Tooth disease. Report of a case.
McCluskey DJ et al.
Journal of Clinical Neuro-ophthalmology, 1986
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