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The Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type.

作者信息

Sweat Marie, Skalsky Andrew

机构信息

Division of Neurology, Rady Children's Hospital San Diego, San Diego, California, USA.

Department of Neurosciences, School of Medicine University of California San Diego, San Diego, California, USA.

出版信息

Muscle Nerve. 2025 Mar;71(3):290-292. doi: 10.1002/mus.28345. Epub 2025 Jan 16.

DOI:10.1002/mus.28345

PMID:39821411

Abstract

摘要

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The Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type.

作者信息

Sweat Marie, Skalsky Andrew

机构信息

Division of Neurology, Rady Children's Hospital San Diego, San Diego, California, USA.

Department of Neurosciences, School of Medicine University of California San Diego, San Diego, California, USA.

出版信息

Muscle Nerve. 2025 Mar;71(3):290-292. doi: 10.1002/mus.28345. Epub 2025 Jan 16.

DOI:10.1002/mus.28345

PMID:39821411

Abstract

摘要

相似文献

The Critical Importance of Early and Combination Treatment for Spinal Muscular Atrophy Type.

Muscle Nerve. 2025 Mar;71(3):290-292. doi: 10.1002/mus.28345. Epub 2025 Jan 16.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252.

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients.

J Neurol. 2020 Apr;267(4):898-912. doi: 10.1007/s00415-019-09646-w. Epub 2019 Nov 27.

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.

Lancet Neurol. 2022 Dec;21(12):1110-1119. doi: 10.1016/S1474-4422(22)00339-8. Epub 2022 Oct 14.

Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study.

J Child Neurol. 2023 Feb;38(1-2):52-63. doi: 10.1177/08830738221135918. Epub 2022 Dec 19.

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review.

Pediatr Neurol. 2015 Oct;53(4):293-300. doi: 10.1016/j.pediatrneurol.2015.06.002. Epub 2015 Jun 10.

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

Lancet Neurol. 2021 Apr;20(4):284-293. doi: 10.1016/S1474-4422(21)00001-6. Epub 2021 Mar 17.

Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study.

Sleep Med. 2024 Jul;119:335-341. doi: 10.1016/j.sleep.2024.05.014. Epub 2024 May 10.

Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy.

Pediatr Neurol. 2017 Jan;66:69-75. doi: 10.1016/j.pediatrneurol.2016.09.008. Epub 2016 Sep 15.

Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease.

Pediatr Neurol. 2020 Aug;109:12-19. doi: 10.1016/j.pediatrneurol.2020.01.003. Epub 2020 Jan 22.

引用本文的文献

Uncovering Hidden Profiles: From Pain-Centric to Multi-Symptom Small Fiber Neuropathy.

Eur J Neurol. 2025 Aug;32(8):e70321. doi: 10.1111/ene.70321.