Associated Papers
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S2___S3.pdf
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Chen L et al.
Journal of Neurology, 2024
39666198 (PubMed )
Supplement: 415_2024_12839_MOESM1_ESM.xlsx › Sheet1
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Benquey T et al.
Journal of Neuromuscular Diseases, 2020
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
Liu X et al.
Frontiers in Neurology, 2020
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
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