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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Benquey T et al.
Journal of Neuromuscular Diseases, 2020
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
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