第209届ENMC国际研讨会：脊髓性肌萎缩症的疗效指标与临床试验准备情况，2014年11月7日至9日，荷兰赫姆斯凯尔克 - Suppr

Suppr

超能文献

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

作者信息

Finkel Richard, Bertini Enrico, Muntoni Francesco, Mercuri Eugenio

机构信息

Nemours Children's Hospital, Orlando, USA.

UCL Institute of Child Health, Dubowitz Neuromuscular Centre, London, UK.

出版信息

Neuromuscul Disord. 2015 Jul;25(7):593-602. doi: 10.1016/j.nmd.2015.04.009. Epub 2015 Apr 28.

DOI:10.1016/j.nmd.2015.04.009

PMID:26045156

Abstract

摘要

相似文献

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

Neuromuscul Disord. 2015 Jul;25(7):593-602. doi: 10.1016/j.nmd.2015.04.009. Epub 2015 Apr 28.

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

Neuromuscul Disord. 2005 Nov;15(11):802-16. doi: 10.1016/j.nmd.2005.07.005. Epub 2005 Oct 3.

190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands.

Neuromuscul Disord. 2013 Jul;23(7):602-9. doi: 10.1016/j.nmd.2013.04.004. Epub 2013 May 29.

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

Neuromuscul Disord. 2017 Jun;27(6):596-605. doi: 10.1016/j.nmd.2017.02.014. Epub 2017 Mar 2.

38th ENMC International Workshop. Spinal muscular atrophy trial group 10-12 December 1995, Naarden, The Netherlands.

Neuromuscul Disord. 1996 Aug;6(4):293-4. doi: 10.1016/s0960-8966(96)90032-2.

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.

Neuromuscul Disord. 2008 Dec;18(12):997-1001. doi: 10.1016/j.nmd.2008.07.006. Epub 2008 Oct 22.

244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.

Neuromuscul Disord. 2020 Jan;30(1):93-103. doi: 10.1016/j.nmd.2019.11.002. Epub 2019 Nov 9.

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands.

Neuromuscul Disord. 2002 Feb;12(2):201-10. doi: 10.1016/s0960-8966(01)00272-3.

103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The Netherlands.

Neuromuscul Disord. 2003 Feb;13(2):173-8. doi: 10.1016/s0960-8966(02)00198-0.

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).

Neuromuscul Disord. 2003 Feb;13(2):179-83. doi: 10.1016/s0960-8966(02)00211-0.

引用本文的文献

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.

Sci Rep. 2025 Jul 24;15(1):26984. doi: 10.1038/s41598-025-12484-8.

The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.

Turk J Med Sci. 2025 Feb 2;55(3):702-709. doi: 10.55730/1300-0144.6018. eCollection 2025.

Spinal muscular atrophy in the era of newborn screening: how the classification could change.

Front Neurol. 2025 May 7;16:1542396. doi: 10.3389/fneur.2025.1542396. eCollection 2025.

In utero therapy for spinal muscular atrophy: closer to clinical translation.

Brain. 2025 Apr 7. doi: 10.1093/brain/awaf123.

Research trends on spinal muscular atrophy from 1995 to 2023: A bibliometric analysis.

Medicine (Baltimore). 2025 Mar 28;104(13):e41801. doi: 10.1097/MD.0000000000041801.

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation.

Front Genet. 2024 Nov 22;15:1483903. doi: 10.3389/fgene.2024.1483903. eCollection 2024.

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.

Acta Myol. 2024 Sep;43(3):89-94. doi: 10.36185/2532-1900-558.

Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort study.

J Neuroeng Rehabil. 2024 Oct 17;21(1):183. doi: 10.1186/s12984-024-01477-9.

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Orphanet J Rare Dis. 2024 Sep 13;19(1):344. doi: 10.1186/s13023-024-03326-3.

Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.

Genes (Basel). 2024 Jul 30;15(8):999. doi: 10.3390/genes15080999.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验