Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life-Reference-Cited by-同舟云学术

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Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life

Published:2024-07 Issue: Volume:51 Page:17-23
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Steffens Paula,Weiss Deike^ORCID,Perez Anna,Appel Manuel,Weber Philipp^ORCID,Weiss Claudia^ORCID,Stoltenburg Corinna^ORCID,Ehinger Ute,von der Hagen Maja^ORCID,Schallner Jens,Claussen Birte,Lode Ilka,Hahn Andreas,Schuler Rahel^ORCID,Ruß Lena,Ziegler Andreas^ORCID,Denecke Jonas,Johannsen Jessika

Publisher

Elsevier BV

Reference40 articles.

1. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2;Monani;Hum. Mol. Genet.,1999

2. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model;Hua;Nature,2011

3. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number;Wirth;Hum. Genet.,2006

4. Observational study of spinal muscular atrophy type I and implications for clinical trials;Finkel;Neurology,2014

5. Natural history of infantile-onset spinal muscular atrophy;Kolb;Ann. Neurol.,2017

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Impact of Disease Severity and Disease-Modifying Therapies on Myostatin Levels in SMA Patients;International Journal of Molecular Sciences;2024-08-12

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