Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.R36W
Back to variants list

MPZ

NM_000530.8:p.R36W

Associated Papers

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

Gemignani F et al.

International Journal of Molecular Sciences, 2024

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Taniguchi T et al.

Clinical Genetics, 2021

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.

Bai Y et al.

Annals of Clinical and Translational Neurology, 2018

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O et al.

Brain : a Journal of Neurology, 2015

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.

Dacci P et al.

Journal of the Peripheral Nervous System : Jpns, 2012

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Ramirez JD et al.

Pain, 2012

Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.

Burns TM et al.

Neuromuscular Disorders : Nmd, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."