Associated Papers
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
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
PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.
Nagappa M et al.
Journal of Molecular Neuroscience : Mn, 2020
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.
Kabzińska D et al.
Journal of Applied Genetics, 2010
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
HNPP due to a novel missense mutation of the PMP22 gene.
Nodera H et al.
Neurology, 2003
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
Sambuughin N et al.
Neurology, 2003
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K et al.
Human Mutation, 2003
Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
Kovach MJ et al.
American Journal of Medical Genetics, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF et al.
Annals of Neurology, 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