Associated Papers
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Palu E et al.
Neurogenetics, 2023
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY et al.
Genes, 2022
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Molecular mechanisms of inherited demyelinating neuropathies.
Scherer SS et al.
Glia, 2008
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.
Oliver PL et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2007
Mouse models of Charcot-Marie-Tooth disease.
Tanaka Y et al.
Trends in Genetics : Tig, 2002
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.
Isaacs AM et al.
Human Molecular Genetics, 2000
[5 Cases of Charcot-Marie disease with electromyography examinations].
DECHAUME et al.
Lyon Medical, 1957
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