{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T07:03:54Z","timestamp":1778828634766,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T00:00:00Z","timestamp":1604448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13\u00a0days. He showed mild motor improvement 2\u00a0months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4\u00a0months and had increasing cardiac and autonomic dysfunction leading to exitus at 5\u00a0months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.<\/jats:p>","DOI":"10.1002\/acn3.51126","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T21:47:15Z","timestamp":1604526435000},"page":"2481-2483","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Nusinersen in type 0 spinal muscular atrophy: should we treat?"],"prefix":"10.1002","volume":"7","author":[{"given":"Eloisa","family":"Tiberi","sequence":"first","affiliation":[{"name":"Neonatology Unit Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Agostino Gemelli IRCCS Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simonetta","family":"Costa","sequence":"additional","affiliation":[{"name":"Neonatology Unit Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Agostino Gemelli IRCCS Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS\u2010Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"Centro Clinico Nemo Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Priolo","sequence":"additional","affiliation":[{"name":"Neonatology Unit Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Agostino Gemelli IRCCS Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"de Sanctis","sequence":"additional","affiliation":[{"name":"Centro Clinico Nemo Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Romeo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS\u2010Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"Centro Clinico Nemo Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco D.","family":"Tiziano","sequence":"additional","affiliation":[{"name":"Section of Genomic Medicine Department of Life Science and Public Health Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Conti","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Vento","sequence":"additional","affiliation":[{"name":"Neonatology Unit Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Agostino Gemelli IRCCS Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9851-5365","authenticated-orcid":false,"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS\u2010Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"Centro Clinico Nemo Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80015-4"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80012-9"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160177"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.04.009"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25533"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006281"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190441"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180304"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14047"},{"key":"e_1_2_5_11_1","article-title":"Clinical course in a patient with spinal muscular atrophy type 0 treated with nusinersen and onasemnogene abeparvovec","volume":"9","author":"Matesanz SE","year":"2020","journal-title":"J Child Neurol."}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51126","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.51126","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T13:07:05Z","timestamp":1693832825000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.51126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,4]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/acn3.51126"],"URL":"https:\/\/doi.org\/10.1002\/acn3.51126","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,4]]},"assertion":[{"value":"2020-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}