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
Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Shumeri E et al.
Journal of the Peripheral Nervous System : Jpns, 2025
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
Beręsewicz M et al.
Scientific Reports, 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.
Ahlborn LB et al.
Oncotarget, 2018
30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1
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
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
Codron P et al.
Journal of the Peripheral Nervous System : Jpns, 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
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.
Di Meglio C et al.
Brain & Development, 2016
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