Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
Jaffry M et al.
Neurogenetics, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
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
Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A.
Bello M et al.
Journal of Biomolecular Structure & Dynamics, 2017
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.
Kumar CV et al.
Advances in Bioinformatics, 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
Recessively transmitted predominantly motor neuropathies.
Parman Y et al.
Handbook of Clinical Neurology, 2013
Variable phenotypes are associated with PMP22 missense mutations.
Russo M et al.
Neuromuscular Disorders : Nmd, 2011
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Shy ME et al.
Annals of Neurology, 2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM et al.
Journal of Neuropathology and Experimental Neurology, 2005
[Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM et al.
Bulletin De L'academie Nationale De Medecine, 2005
Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.
Liu N et al.
Neurobiology of Disease, 2004
Autosomal recessive forms of Charcot-Marie-Tooth disease.
Vallat JM et al.
Current Neurology and Neuroscience Reports, 2004
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A et al.
Neurogenetics, 2003
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
Planté-Bordeneuve V et al.
Journal of Neurology, 2001
Peripheral neuropathy in the first 2 years of life: diagnostic evaluation including molecular genetics.
Lacson AG et al.
Advances in Pediatrics, 2001
Association studies of Parkinson's disease and parkin polymorphisms.
Klein C et al.
Annals of Neurology, 2000
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
Numakura C et al.
Annals of Neurology, 2000
Myopathy with hexagonally cross-linked tubular arrays: a new autosomal dominant or sporadic congenital myopathy.
Bourque PR et al.
Annals of Neurology, 1999
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
Parman Y et al.
Annals of Neurology, 1999