{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T20:24:46Z","timestamp":1791059086365,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,10,27]],"date-time":"2013-10-27T00:00:00Z","timestamp":1382832000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1007\/s00415-013-7154-1","type":"journal-article","created":{"date-parts":[[2013,10,26]],"date-time":"2013-10-26T01:11:46Z","timestamp":1382749906000},"page":"152-163","source":"Crossref","is-referenced-by-count":89,"title":["Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe"],"prefix":"10.1007","volume":"261","author":[{"given":"Catherine L.","family":"Bladen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline M.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Connie","family":"Garland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Wegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ambrosini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Pisano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie C.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Schreiber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lusakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Jedrzejowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludo","family":"van der Pol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renske I.","family":"Wadman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ole","family":"Gredal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Karaduman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oznur","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vitaliy","family":"Matyushenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vedrana Milic","family":"Rasic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Kosac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Karcagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Garami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Herczegfalvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"Monges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Moresco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilien","family":"Chertkoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velina","family":"Guergueltcheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niculina","family":"Butoianu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Craiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Korngut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Haberlova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Strenkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moises","family":"Alejandro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alatorre","family":"Jimenez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genaro Gabriel","family":"Ortiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gracia Viviana Gonzalez","family":"Enriquez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Roxburgh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh","family":"Dawkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne","family":"Youngs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaana","family":"Lahdetie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalija","family":"Angelkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Saugier-Veber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Cuisset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Bloetzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Yves","family":"Jeannet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Nascimento","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Salgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Sejersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Kirschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Rafferty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Bushby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Verschuuren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Beroud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,10,27]]},"reference":[{"issue":"6266","key":"7154_CR1","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","volume":"344","author":"LM Brzustowicz","year":"1990","unstructured":"Brzustowicz LM et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344(6266):540\u2013541","journal-title":"Nature"},{"issue":"1","key":"7154_CR2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80(1):155\u2013165","journal-title":"Cell"},{"issue":"8710","key":"7154_CR3","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","volume":"336","author":"J Melki","year":"1990","unstructured":"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\u2013273","journal-title":"Lancet"},{"issue":"3","key":"7154_CR4","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s004390100473","volume":"108","author":"CF Rochette","year":"2001","unstructured":"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\u2013266","journal-title":"Hum Genet"},{"issue":"3","key":"7154_CR5","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","volume":"16","author":"S Lefebvre","year":"1997","unstructured":"Lefebvre S et al (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16(3):265\u2013269","journal-title":"Nat Genet"},{"issue":"3","key":"7154_CR6","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/3030","volume":"20","author":"DK Gavrilov","year":"1998","unstructured":"Gavrilov DK et al (1998) Differential SMN2 expression associated with SMA severity. Nat Genet 20(3):230\u2013231","journal-title":"Nat Genet"},{"issue":"3","key":"7154_CR7","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1093\/jnen\/64.3.215","volume":"64","author":"C Soler-Botija","year":"2005","unstructured":"Soler-Botija C et al (2005) Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? J Neuropathol Exp Neurol 64(3):215\u2013223","journal-title":"J Neuropathol Exp Neurol"},{"issue":"6","key":"7154_CR8","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1086\/302160","volume":"63","author":"DW Parsons","year":"1998","unstructured":"Parsons DW et al (1998) Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 63(6):1712\u20131723","journal-title":"Am J Hum Genet"},{"issue":"8","key":"7154_CR9","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","volume":"22","author":"CH Wang","year":"2007","unstructured":"Wang CH et al (2007) Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 22(8):1027\u20131049","journal-title":"J Child Neurol"},{"issue":"5","key":"7154_CR10","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","volume":"11","author":"E Mercuri","year":"2012","unstructured":"Mercuri E, Bertini E, Iannaccone ST (2012) Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 11(5):443\u2013452","journal-title":"Lancet Neurol"},{"issue":"1","key":"7154_CR11","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","volume":"146","author":"K Zerres","year":"1997","unstructured":"Zerres K et al (1997) A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 146(1):67\u201372","journal-title":"J Neurol Sci"},{"issue":"4","key":"7154_CR12","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.10425","volume":"110","author":"S Ogino","year":"2002","unstructured":"Ogino S et al (2002) Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 110(4):301\u2013307","journal-title":"Am J Med Genet"},{"issue":"12","key":"7154_CR13","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/sj.ejhg.5201288","volume":"12","author":"S Ogino","year":"2004","unstructured":"Ogino S, Wilson RB, Gold B (2004) New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 12(12):1015\u20131023","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"7154_CR14","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","volume":"70","author":"M Feldkotter","year":"2002","unstructured":"Feldkotter M et al (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70(2):358\u2013368","journal-title":"Am J Hum Genet"},{"issue":"4","key":"7154_CR15","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.nmd.2009.01.005","volume":"19","author":"P Brabec","year":"2009","unstructured":"Brabec P et al (2009) Characterization of the DMD\/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscul Disord 19(4):250\u2013254","journal-title":"Neuromuscul Disord"},{"key":"7154_CR16","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","volume":"6","author":"A D\u2019Amico","year":"2011","unstructured":"D\u2019Amico A et al (2011) Spinal muscular atrophy. Orphanet J Rare Dis 6:71","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"7154_CR17","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1002\/ppul.21617","volume":"47","author":"RC Benson","year":"2012","unstructured":"Benson RC et al (2012) International survey of physician recommendation for tracheostomy for spinal muscular atrophy type I. Pediatr Pulmonol 47(6):606\u2013611","journal-title":"Pediatr Pulmonol"},{"issue":"3","key":"7154_CR18","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1177\/0969733011429014","volume":"19","author":"B Rul","year":"2012","unstructured":"Rul B et al (2012) Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context. Nurs Ethics 19(3):408\u2013418","journal-title":"Nurs Ethics"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-013-7154-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-013-7154-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-013-7154-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T15:23:17Z","timestamp":1559056997000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-013-7154-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,27]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["7154"],"URL":"https:\/\/doi.org\/10.1007\/s00415-013-7154-1","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,27]]}}}