Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
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
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Ward KS et al.
Brain : a Journal of Neurology, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.
Ward KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
Jaffry M et al.
Neurogenetics, 2022
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
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.
Kumar CV et al.
Advances in Bioinformatics, 2014
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.
Shames I et al.
Journal of Neuropathology and Experimental Neurology, 2003
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C et al.
Human Mutation, 2002
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Kovach MJ et al.
American Journal of Human Genetics, 1999
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