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dataset related to article "Validation of the Italian version of the Charcot-Marie-Tooth Health Index"

NIAID Data Ecosystem2026-03-12 收录

神经肌肉疾病

医学问卷验证

数据链接：

https://zenodo.org/record/4650382 数据链接链接失效反馈

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资源简介：

Data from CMTHI questionnaire for validation in Italian.

应用场景：

创建时间：

2021-04-01

罕见病患者登记

神经肌肉疾病

The Myotubular and Centronuclear Myopathy Patient Registry (‘MTM and CNM Registry’) is an international database specific to these conditions, operated by Newcastle University in the UK as part of the

DataCite Commons2021-06-17 更新140

A cross-sectional study of nemaline myopathy supplementary figures

神经肌肉疾病

横断面研究

Objective: Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, compl

DataCite Commons2025-06-01 更新70

Validation of a stoma-specific quality of life questionnaire in a sample of patients with colostomy or ileostomy

医学问卷验证

生活质量评估

Validation of a stoma-specific quality of life questionnaire in a sample of patients with colostomy or ileostomy

Global Health Data Exchange ()60

Supplementary Material for: Home Use of Mechanical Insufflation/Exsufflation in Adult Patients in Western Switzerland

家庭呼吸支持治疗

神经肌肉疾病

Background: Mechanical insufflation/exsufflation (MI-E) devices are often prescribed to patients with inefficient cough and recurrent infections, but their use in the home setting is not well characte

NIAID Data Ecosystem120

Gene mutations and muscle strength in 16 patients with neuromuscular disorders.

神经肌肉疾病

突变表型关联

Abbreviations: LMGD = Limb-girdle muscular dystrophy, DM = Myotonic dystrophy, CMT = Charcot-Marie-Tooth disease, CM = Congenital myopathy, FSH = Facioscapulohumeral muscular dystrophy, MRC

NIAID Data Ecosystem60

dataset related to article "Validation of the Italian version of the Charcot-Marie-Tooth Health Index"

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