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_S1.xlsx › CMT1E
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
PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.
Nagappa M et al.
Journal of Molecular Neuroscience : Mn, 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
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
The palmitoylation state of PMP22 modulates epithelial cell morphology and migration.
Zoltewicz SJ et al.
Asn Neuro, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.
Lewis RA et al.
Muscle & Nerve, 2000
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
Many facets of the peripheral myelin protein PMP22 in myelination and disease.
Naef R et al.
Microscopy Research and Technique, 1998
Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
D'Urso D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
Tyson J et al.
Brain : a Journal of Neurology, 1997
Select a paper to view details