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
Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
Moss KR et al.
Glia, 2026
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
25243937 (PubMed )
Supplement: bi500809t_si_001.pdf
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.
Kumar CV et al.
Advances in Bioinformatics, 2014
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2013
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
PMP22 related congenital hypomyelination neuropathy.
Fabrizi GM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
Fabrizi GM et al.
Acta Neuropathologica, 2000
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Servidei S et al.
Neurology, 1999
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