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
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
Schlebach JP et al.
Journal of the American Chemical Society, 2015
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
Variable phenotypes are associated with PMP22 missense mutations.
Russo M et al.
Neuromuscular Disorders : Nmd, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
Luigetti M et al.
Muscle & Nerve, 2008
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
Joo IS et al.
Neuromuscular Disorders : Nmd, 2004
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
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
Sambuughin N et al.
Neurology, 2003
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
PMP22 related congenital hypomyelination neuropathy.
Fabrizi GM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
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
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