Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY et al.
Genes, 2022
Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.
Wu R et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
Wang DS et al.
Annals of Clinical and Translational Neurology, 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 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
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
Choi BO et al.
Human Mutation, 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
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.
Fontanini A et al.
The Journal of Biological Chemistry, 2005
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
Association studies of Parkinson's disease and parkin polymorphisms.
Klein C et al.
Annals of Neurology, 2000
A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E.
Kim JY et al.
Neurology India, 0