第157届欧洲神经肌肉中心国际研讨会：罕见遗传性肌肉疾病患者登记 2008年1月25日至27日荷兰纳尔登 - Suppr

Suppr

超能文献

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

作者信息

Sárközy Anna, Bushby Kate, Béroud Christophe, Lochmüller Hanns

机构信息

Institute of Human Genetics, University of Newcastle, TREAT-NMD Office, Newcastle upon Tyne NE1 3BZ, UK.

出版信息

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

DOI:10.1016/j.nmd.2008.07.006

PMID:18948006

Abstract

摘要

相似文献

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.

194th ENMC international workshop. 3rd ENMC workshop on exon skipping: towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands.

Neuromuscul Disord. 2013 Nov;23(11):934-44. doi: 10.1016/j.nmd.2013.06.369. Epub 2013 Jul 24.

195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands.

Neuromuscul Disord. 2013 Aug;23(8):682-9. doi: 10.1016/j.nmd.2013.05.008. Epub 2013 Jun 20.

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.

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.

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.

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.

Neuromuscul Disord. 2008 Nov;18(11):894-903. doi: 10.1016/j.nmd.2008.07.003. Epub 2008 Sep 24.

Special Centennial Workshop-- 101st ENMC International Workshop: Therapeutic Possibilities in Duchenne Muscular Dystrophy, 30th November-2nd December 2001, Naarden, The Netherlands.

Neuromuscul Disord. 2002 May;12(4):421-31. doi: 10.1016/s0960-8966(02)00006-8.

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands.

Neuromuscul Disord. 2015 Feb;25(2):184-98. doi: 10.1016/j.nmd.2014.09.004. Epub 2014 Sep 11.

226 ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands.

Neuromuscul Disord. 2018 Jan;28(1):77-86. doi: 10.1016/j.nmd.2017.10.002. Epub 2017 Oct 26.

引用本文的文献

Digital health solution for monitoring and surveillance of Amyotrophic Lateral Sclerosis in Brazil.

Front Public Health. 2023 Aug 25;11:1209633. doi: 10.3389/fpubh.2023.1209633. eCollection 2023.

HealthTree Cure Hub: A Patient-Derived, Patient-Driven Clinical Cancer Information Platform Used to Overcome Hurdles and Accelerate Research in Multiple Myeloma.

JCO Clin Cancer Inform. 2022 Feb;6:e2100141. doi: 10.1200/CCI.21.00141.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6.

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28.

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Neurology. 2020 Mar 17;94(11):e1171-e1180. doi: 10.1212/WNL.0000000000008903. Epub 2020 Feb 18.

The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.

Paediatr Child Health. 2018 Feb;23(1):20-26. doi: 10.1093/pch/pxx125. Epub 2017 Dec 8.

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.

J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Eur J Hum Genet. 2017 Feb;25(2):162-165. doi: 10.1038/ejhg.2016.137. Epub 2016 Oct 26.

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