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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.
Felice KJ et al.
Muscle & Nerve, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.
Corrado L et al.
Neuromuscular Disorders : Nmd, 2016
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