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Electrophysiologic findings of the three patients with PMP2 p.I43N mutation.

Figshare2016-02-22 更新2026-04-29 收录

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https://figshare.com/articles/dataset/Electrophysiologic_findings_of_the_three_patients_with_i_PMP2_i_p_I43N_mutation_/2580124 数据链接链接失效反馈

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Electrophysiologic findings of the three patients with PMP2 p.I43N mutation.

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2016-02-22

Charcot-Marie-Tooth病

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ABSTRACT Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Objective: To investigate the prevalence and characteristics of pain in patients with

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Expression data from Gdap1 knock-out (deletion of exon 5) mice. Mus musculus

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GDAP1 is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. Gdap1 knockout mice, mimicking genetic alterations of patients suffering from severe CMT forms, develo

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Supplementary Material for: Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study

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Background: Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous disorders that primarily affect the peripheral nervous system. Epidemiological studie

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Pain in Charcot-Marie-Tooth disease: an update

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ABSTRACT Charcot-Marie-Tooth (CMT) disease, the most common inherited peripheral neuropathy, has pain as one of its clinical features, yet it remains underdiagnosed and undertreated. This literature r

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Additional file 4 of Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

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蛋白质组学通路分析

Additional file 4. Canonical pathways in Ingenuity Pathway Analysis (IPA). The IPA analysis showed that 398 canonical pathways were significantly affected.

Figshare2022-08-16 更新70

Electrophysiologic findings of the three patients with PMP2 p.I43N mutation.

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