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
Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients.
Ma Y et al.
Frontiers in Genetics, 2023
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
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
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
Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
Marques W et al.
Acta Neurologica Scandinavica, 2004
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
Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
Ceuterick-de Groote C et al.
Pathology, Research and Practice, 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
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.
Simonati A et al.
Neuromuscular Disorders : Nmd, 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