المؤلفون: Sally Dunaway Young, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane

مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test

المؤلفون: Stefania Petrini, Adele D'Amico, Laura Lucarini, Patrizia Sabatelli, Alessandra Tessa, Betti Giusti, Margherita Verardo, Rosalba Carrozzo, Elisabetta Mattioli, Marina Scarpelli, Mon Li Chu, Guglielmina Pepe, Enrico Bertini, SALE, PATRIZIO, RUSSO, Matteo Antonio

المساهمون: Stefania, Petrini, Adele, D'Amico, Sale, Patrizio, Laura, Lucarini, Patrizia, Sabatelli, Alessandra, Tessa, Betti, Giusti, Margherita, Verardo, Rosalba, Carrozzo, Elisabetta, Mattioli, Marina, Scarpelli, Mon Li, Chu, Guglielmina, Pepe, Russo, Matteo Antonio, Enrico, Bertini

مصطلحات موضوعية: collagen vi defect, confocal imaging, rotary-shadowing electron microscopy, ullrich congenital muscular dystrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17588753; info:eu-repo/semantics/altIdentifier/wos/WOS:000248876200001; volume:17; issue:8; firstpage:587; lastpage:596; numberofpages:10; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11573/363481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34447291815; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000248876200001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-34447291815&partnerID=65&md5=2f6c4cbcf7984edca950bd091c10e3adTest

الإتاحة: https://doi.org/10.1016/j.nmd.2007.04.010Test
http://hdl.handle.net/11573/363481Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000248876200001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-34447291815&partnerID=65&md5=2f6c4cbcf7984edca950bd091c10e3adTest