Associated Papers
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S1.xlsx › CMT1E
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.
Nguyen-Le TH et al.
Brain and Behavior, 2022
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY et al.
Genes, 2022
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
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