Associated Papers
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
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
Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.
Zhu J et al.
The American Journal of Case Reports, 2025
De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Lee AJ et al.
Genes & Genomics, 2025
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
Jaffry M et al.
Neurogenetics, 2022
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
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
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Schon K et al.
Neurogenetics, 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
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
Taioli F et al.
Journal of the Peripheral Nervous System : Jpns, 2012
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