European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author:

Barp AndreaORCID,Laforet Pascal,Bello Luca,Tasca Giorgio,Vissing John,Monforte Mauro,Ricci Enzo,Choumert Ariane,Stojkovic Tanya,Malfatti Edoardo,Pegoraro Elena,Semplicini Claudio,Stramare Roberto,Scheidegger Olivier,Haberlova Jana,Straub Volker,Marini-Bettolo Chiara,Løkken Nicoline,Diaz-Manera Jordi,Urtizberea Jon A.,Mercuri Eugenio,Kynčl Martin,Walter Maggie C.,Carlier Robert Y.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Reference36 articles.

1. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C et al (1995) Mutations in the proteolytic enzyme calpain 3 cause limb–girdle muscular dystrophy type 2A. Cell 81(1):27–40. https://doi.org/10.1016/0092-8674(95)90368-2

2. Straub V, Murphy A, Udd B (2018) LGMD workshop study group 229th ENMC international workshop: Limb girdle muscular dystrophies—Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord 28(8):702–710. https://doi.org/10.1016/j.nmd.2018.05.007

3. Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J (1996) Juvenile limb–girdle muscular dystrophy Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 119(Pt 1):295–308. https://doi.org/10.1093/brain/119.1.295

4. Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F (2005) Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 15(4):303–310. https://doi.org/10.1016/j.nmd.2005.01.004

5. Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A (1998) Limb–girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain 121(Pt 9):1735–1747. https://doi.org/10.1093/brain/121.9.1735

Cited by 49 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

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3