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It's time to measure disability in spinal muscular atrophy.

作者信息

Trabacca Antonio, Ferrante Camilla, De Rinaldis Marta

机构信息

Scientific Institute IRCCS "E. Medea", Unit for Severe disabilities in developmental age and young adults (Developmental Neurology and Neurorehabilitation), Brindisi, Italy.

出版信息

Acta Myol. 2022 Jun 30;41(2):57-58. doi: 10.36185/2532-1900-070. eCollection 2022 Jun.

DOI:10.36185/2532-1900-070
PMID:35832503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9237752/
Abstract
摘要

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Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes.利用国际功能、残疾和健康分类为脊髓性肌萎缩症患者设定多学科干预目标：小样本量的试点研究
Acta Neurol Belg. 2025 Mar 26. doi: 10.1007/s13760-025-02771-6.

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Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis.5q型脊髓性肌萎缩症青少年及成人疾病进展的生物标志物：一项系统综述与荟萃分析
Neuromuscul Disord. 2022 Mar;32(3):185-194. doi: 10.1016/j.nmd.2021.12.005. Epub 2022 Jan 4.
2
Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment.脊髓性肌萎缩症：疾病修饰治疗时代功能性运动量表的应用
Child Neurol Open. 2021 Apr 27;8:2329048X211008725. doi: 10.1177/2329048X211008725. eCollection 2021 Jan-Dec.
3
The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study.《国际功能、残疾和健康分类-儿童和青少年》作为基因治疗时代管理脊髓性肌萎缩症的框架：概念验证研究。
Eur J Phys Rehabil Med. 2020 Apr;56(2):243-251. doi: 10.23736/S1973-9087.20.05968-7. Epub 2020 Jan 14.
4
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.脊髓性肌萎缩症治疗进展——新表型、新挑战、新护理意义。
J Neuromuscul Dis. 2020;7(1):1-13. doi: 10.3233/JND-190424.