{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:28:08Z","timestamp":1790065688136,"version":"4.0.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T00:00:00Z","timestamp":1418688000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1007\/s00415-014-7606-2","type":"journal-article","created":{"date-parts":[[2014,12,15]],"date-time":"2014-12-15T07:32:28Z","timestamp":1418628748000},"page":"476-478","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation"],"prefix":"10.1007","volume":"262","author":[{"given":"Marina","family":"Scarlato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Nuara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Gerevini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Benedetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano Carlo","family":"Previtali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,12,16]]},"reference":[{"issue":"4","key":"7606_CR1","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1093\/hmg\/9.4.637","volume":"9","author":"N Fonknechten","year":"2000","unstructured":"Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, B\u00f6nsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud\u2019homme JF, Weissenbach J, D\u00fcrr A, Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9(4):637\u2013644","journal-title":"Hum Mol Genet"},{"issue":"4","key":"7606_CR2","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/0960-8966(91)90094-9","volume":"1","author":"GW Padberg","year":"1991","unstructured":"Padberg GW, Lunt PW, Koch M (1991) Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1(4):231\u2013234","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"7606_CR3","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/mds.21809","volume":"23","author":"MJ Hecht","year":"2008","unstructured":"Hecht MJ, Stolze H, Auf dem Brinke M, Giess R, Treig T, Winterholler M, Wissel J, German Spasticity Education Group (2008) Botulinum neurotoxin type A injections reduce spasticity in mild to moderate hereditary spastic paraplegia\u2013report of 19 cases. Mov Disord 23(2):228\u2013233","journal-title":"Mov Disord"},{"issue":"11","key":"7606_CR4","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/j.nmd.2008.06.387","volume":"18","author":"S Rudnik-Sch\u00f6neborn","year":"2008","unstructured":"Rudnik-Sch\u00f6neborn S, Weis J, Kress W, H\u00e4usler M, Zerres K (2008) Becker\u2019s muscular dystrophy aggravating facioscapulohumeral muscular dystrophy\u2013double trouble as an explanation for an atypical phenotype. Neuromuscul Disord 18(11):881\u2013885","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"7606_CR5","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.nmd.2011.12.001","volume":"22","author":"G Ricci","year":"2012","unstructured":"Ricci G, Scionti I, Al\u00ec G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G (2012) Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for \u201cdouble trouble\u201d overlapping syndromes. Neuromuscul Disord 22(6):534\u2013540","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"7606_CR6","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.nmd.2013.02.002","volume":"23","author":"M Masciullo","year":"2013","unstructured":"Masciullo M, Iannaccone E, Bianchi ML, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G (2013) Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study. Neuromuscul Disord 23(5):427\u2013431","journal-title":"Neuromuscul Disord"},{"issue":"14","key":"7606_CR7","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/1471-2350-14-92","volume":"16","author":"O Schreiber","year":"2013","unstructured":"Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC (2013) Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A\u2013evidence for \u201cdouble trouble\u201d overlapping syndromes. BMC Med Genet 16(14):92","journal-title":"BMC Med Genet"},{"issue":"3","key":"7606_CR8","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.nmd.2007.12.005","volume":"18","author":"M Filosto","year":"2008","unstructured":"Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G (2008) Novel mitochondrial tRNA Leu (CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. Neuromuscul Disord 18(3):204\u2013209","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"7606_CR9","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","volume":"67","author":"R Sch\u00fcle","year":"2006","unstructured":"Sch\u00fcle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Sch\u00f6ls L (2006) The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67(3):430\u2013434","journal-title":"Neurology"},{"issue":"2","key":"7606_CR10","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mus.21671","volume":"42","author":"C Lamperti","year":"2010","unstructured":"Lamperti C, Fabbri G, Vercelli L, D\u2019Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R (2010) A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score. Muscle Nerve 42(2):213\u2013217","journal-title":"Muscle Nerve"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-014-7606-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-014-7606-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-014-7606-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:22:48Z","timestamp":1559071368000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-014-7606-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,16]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["7606"],"URL":"https:\/\/doi.org\/10.1007\/s00415-014-7606-2","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,16]]}}}