Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe-Reference-Cited by-同舟云学术

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Published:2013-10-27 Issue:1 Volume:261 Page:152-163
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Bladen Catherine L.,Thompson Rachel,Jackson Jacqueline M.,Garland Connie,Wegel Claire,Ambrosini Anna,Pisano Paolo,Walter Maggie C.,Schreiber Olivia,Lusakowska Anna,Jedrzejowska Maria,Kostera-Pruszczyk Anna,van der Pol Ludo,Wadman Renske I.,Gredal Ole,Karaduman Ayse,Topaloglu Haluk,Yilmaz Oznur,Matyushenko Vitaliy,Rasic Vedrana Milic,Kosac Ana,Karcagi Veronika,Garami Marta,Herczegfalvi Agnes,Monges Soledad,Moresco Angelica,Chertkoff Lilien,Chamova Teodora,Guergueltcheva Velina,Butoianu Niculina,Craiu Dana,Korngut Lawrence,Campbell Craig,Haberlova Jana,Strenkova Jana,Alejandro Moises,Jimenez Alatorre,Ortiz Genaro Gabriel,Enriquez Gracia Viviana Gonzalez,Rodrigues Miriam,Roxburgh Richard,Dawkins Hugh,Youngs Leanne,Lahdetie Jaana,Angelkova Natalija,Saugier-Veber Pascal,Cuisset Jean-Marie,Bloetzer Clemens,Jeannet Pierre-Yves,Klein Andrea,Nascimento Andres,Tizzano Eduardo,Salgado David,Mercuri Eugenio,Sejersen Thomas,Kirschner Jan,Rafferty Karen,Straub Volker,Bushby Kate,Verschuuren Jan,Beroud Christophe,Lochmüller Hanns

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-013-7154-1.pdf

Reference18 articles.

1. Brzustowicz LM et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344(6266):540–541

2. Lefebvre S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80(1):155–165

3. Melki J et al (1990) Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet 336(8710):271–273

4. Rochette CF, Gilbert N, Simard LR (2001) SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum Genet 108(3):255–266

5. Lefebvre S et al (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16(3):265–269

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