{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T19:40:19Z","timestamp":1782589219833,"version":"3.54.5"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2006,9,9]],"date-time":"2006-09-09T00:00:00Z","timestamp":1157760000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intensive Care Med"],"published-print":{"date-parts":[[2006,10,19]]},"DOI":"10.1007\/s00134-006-0346-8","type":"journal-article","created":{"date-parts":[[2006,9,8]],"date-time":"2006-09-08T07:58:32Z","timestamp":1157702312000},"page":"1851-1855","source":"Crossref","is-referenced-by-count":29,"title":["Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1"],"prefix":"10.1007","volume":"32","author":[{"given":"Alberto","family":"Giannini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giordano","family":"Rossetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edi","family":"Prandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danilo","family":"Tiziano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Brahe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nardo","family":"Nardocci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,9,9]]},"reference":[{"key":"346_CR1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1177\/000992280204100502","volume":"41","author":"DJ Birnkrant","year":"2002","unstructured":"Birnkrant\u00a0DJ (2002) The assessment and management of the respiratory complications of pediatric neuromuscular diseases. Clin Pediatr (Phila) 41:301\u2013308","journal-title":"Clin Pediatr (Phila)"},{"key":"346_CR2","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1007\/s11910-004-0016-6","volume":"4","author":"ST Iannaccone","year":"2004","unstructured":"Iannaccone\u00a0ST, Smith\u00a0SA, Simard\u00a0LR (2004) Spinal muscular atrophy. Curr Neurol Neurosci Rep 4:74\u201380","journal-title":"Curr Neurol Neurosci Rep"},{"key":"346_CR3","volume-title":"Diseases of the nervous system in childhood","author":"J Aicardi","year":"1998","unstructured":"Aicardi\u00a0J (1998) Diseases of the nervous system in childhood, 2nd edn. Mac Keith, Cambridge","edition":"2"},{"key":"346_CR4","volume-title":"Clinical pediatric neurology. A\u00a0signs and symptoms approach","author":"GM Fenichel","year":"1997","unstructured":"Fenichel\u00a0GM (1997) Clinical pediatric neurology. A\u00a0signs and symptoms approach, 3th edn. Saunders, Philadelphia","edition":"3"},{"key":"346_CR5","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1542\/peds.53.1.33","volume":"53","author":"RB Mellins","year":"1974","unstructured":"Mellins\u00a0RB, Hays\u00a0AP, Gold\u00a0AP, Berdon\u00a0WE, Bowdler\u00a0JD (1974) Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 53:33\u201340","journal-title":"Pediatrics"},{"key":"346_CR6","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng703","volume":"29","author":"K Grohmann","year":"2001","unstructured":"Grohmann\u00a0K, Schuelke\u00a0M, Diers\u00a0A, Hoffmann\u00a0K, Lucke\u00a0B, Adams\u00a0C, Bertini\u00a0E, Leonhardt-Horti\u00a0H, Muntoni\u00a0F, Ouvrier\u00a0R, Pfeufer\u00a0A, Rossi\u00a0R, Van Maldergem\u00a0L, Wilmshurst\u00a0JM, Wienker\u00a0TF, Sendtner\u00a0M, Rudnik-Schoneborn\u00a0S, Zerres\u00a0K, Hubner\u00a0C (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29:75\u201377","journal-title":"Nat Genet"},{"key":"346_CR7","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1002\/ana.10755","volume":"54","author":"K Grohmann","year":"2003","unstructured":"Grohmann\u00a0K, Varon\u00a0R, Stolz\u00a0P, Schuelke\u00a0M, Janetzki\u00a0C, Bertini\u00a0E, Bushby\u00a0K, Muntoni\u00a0F, Ouvrier\u00a0R, Van Maldergem\u00a0L, Goemans\u00a0NM, Lochmuller\u00a0H, Eichholz\u00a0S, Adams\u00a0C, Bosch\u00a0F, Grattan-Smith\u00a0P, Navarro\u00a0C, Neitzel\u00a0H, Polster\u00a0T, Topaloglu\u00a0H, Steglich\u00a0C, Guenther\u00a0UP, Zerres\u00a0K, Rudnik-Schoneborn\u00a0S, Hubner\u00a0C (2003) Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 54:719\u2013724","journal-title":"Ann Neurol"},{"key":"346_CR8","doi-asserted-by":"crossref","first-page":"2682","DOI":"10.1093\/brain\/awg278","volume":"126","author":"M Pitt","year":"2003","unstructured":"Pitt\u00a0M, Houlden\u00a0H, Jacobs\u00a0J, Mok\u00a0Q, Harding\u00a0B, Reilly\u00a0M, Surtees\u00a0R (2003) Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 126:2682\u20132692","journal-title":"Brain"},{"key":"346_CR9","unstructured":"Viollet L. Zarhate\u00a0P, Burlet\u00a0P, Lefebvre\u00a0S, Munnich\u00a0A\u00a0(2002) Novel IGHMPB2 mutations in spinal muscular atrophy with respiratory distress (SMARD1). Am J Hum Genet 71 [Suppl]286"},{"key":"346_CR10","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/humu.9241","volume":"23","author":"I Maystadt","year":"2004","unstructured":"Maystadt\u00a0I, Zarhrate\u00a0M, Landrieu\u00a0P, Boespflug-Tanguy\u00a0O, Sukno\u00a0S, Collignon\u00a0P, Melki\u00a0J, Verellen-Dumoulin\u00a0C, Munnich\u00a0A, Viollet\u00a0L (2004) Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat 23:525\u2013526","journal-title":"Hum Mutat"},{"key":"346_CR11","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.pediatrneurol.2004.11.003","volume":"32","author":"N Tachi","year":"2005","unstructured":"Tachi\u00a0N, Kikuchi\u00a0S, Kozuka\u00a0N, Nogami\u00a0A\u00a0(2005) A\u00a0new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. Pediatr Neurol 32:288\u2013390","journal-title":"Pediatr Neurol"},{"key":"346_CR12","volume-title":"Nelson textbook of pediatrics","author":"RE Behrman","year":"2004","unstructured":"Behrman\u00a0RE, Kliegman\u00a0RM, Jenson\u00a0HB (2004) Nelson textbook of pediatrics, 17th edn. Saunders, Philadelphia","edition":"17"},{"key":"346_CR13","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1055\/s-2007-973741","volume":"27","author":"S Rudnik-Schoneborn","year":"1996","unstructured":"Rudnik-Schoneborn\u00a0S, Forkert\u00a0R, Hahnen\u00a0E, Wirth\u00a0B, Zerres\u00a0K (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 27:8\u201315","journal-title":"Neuropediatrics"},{"key":"346_CR14","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/S1055-8586(03)70005-5","volume":"12","author":"H Flageole","year":"2003","unstructured":"Flageole\u00a0H (2003) Central hypoventilation and diaphragmatic eventration: diagnosis and management. Semin Pediatr Surg 12:38\u201345","journal-title":"Semin Pediatr Surg"},{"key":"346_CR15","doi-asserted-by":"crossref","unstructured":"Lloyd\u00a0T, Tang\u00a0YM, Benson\u00a0MD, King\u00a0S (2005) Diaphragmatic paralysis: the use of M mode ultrasound for diagnosis in adults. Spinal Cord Dec (epub ahead of print 6 December 2005)","DOI":"10.1038\/sj.sc.3101889"},{"key":"346_CR16","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s00247-005-1433-7","volume":"35","author":"M Epelman","year":"2005","unstructured":"Epelman\u00a0M, Navarro\u00a0OM, Daneman\u00a0A, Miller\u00a0SF (2005) M-mode sonography of diaphragmatic motion: description of technique and experience in 278 pediatric patients. Pediatr Radiol 35:661\u2013667","journal-title":"Pediatr Radiol"},{"key":"346_CR17","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1164\/rccm.166.4.518","volume":"166","author":"Thoracic American","year":"2002","unstructured":"American Thoracic Society\/European Respiratory Society (2002) ATS\/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med 166:518\u2013624","journal-title":"Am J Respir Crit Care Med"},{"key":"346_CR18","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1164\/ajrccm.162.6.2004019","volume":"162","author":"GF Rafferty","year":"2000","unstructured":"Rafferty\u00a0GF, Greenough\u00a0A, Dimitriou\u00a0G, Kavadia\u00a0V, Laubscher\u00a0B, Polkey\u00a0MI, Harris\u00a0ML, Moxham\u00a0J (2000) Assessment of neonatal diaphragm function using magnetic stimulation of the phrenic nerves. Am J Respir Crit Care Med 162:2337\u20134230","journal-title":"Am J Respir Crit Care Med"},{"key":"346_CR19","first-page":"87","volume":"45","author":"J Davis","year":"1976","unstructured":"Davis\u00a0J, Goldman\u00a0M, Loh\u00a0L, Casson\u00a0M (1976) Diaphragm function and alveolar hypoventilation. Q J Med 45:87\u2013100","journal-title":"Q J Med"},{"key":"346_CR20","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1053\/apmr.2001.18053","volume":"82","author":"C Fromageot","year":"2001","unstructured":"Fromageot\u00a0C, Lofaso\u00a0F, Annane\u00a0D, Falaize\u00a0L, Lejaille\u00a0M, Clair\u00a0B, Gajdos\u00a0P, Raphael\u00a0JC (2001) Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders. Arch Phys Med Rehabil 82:123\u2013128","journal-title":"Arch Phys Med Rehabil"},{"key":"346_CR21","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.4065\/79.12.1563","volume":"79","author":"N Kumar","year":"2004","unstructured":"Kumar\u00a0N, Folger\u00a0WN, Bolton\u00a0CF (2004) Dyspnea as the predominant manifestation of bilateral phrenic neuropathy. Mayo Clin Proc 79:1563\u20131565","journal-title":"Mayo Clin Proc"},{"key":"346_CR22","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1542\/peds.110.2.e24","volume":"110","author":"MK Hardart","year":"2002","unstructured":"Hardart\u00a0MK, Burns\u00a0JP, Truog\u00a0RD (2002) Respiratory support in spinal muscular atrophy type I: a\u00a0survey of physician practices and attitudes. Pediatrics 110:e24","journal-title":"Pediatrics"},{"key":"346_CR23","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1055\/s-2004-820994","volume":"35","author":"S Rudnik-Schoneborn","year":"2004","unstructured":"Rudnik-Schoneborn\u00a0S, Stolz\u00a0P, Varon\u00a0R, Grohmann\u00a0K, Schachtele\u00a0M, Ketelsen\u00a0UP, Stavrou\u00a0D, Kurz\u00a0H, Hubner\u00a0C, Zerres\u00a0K (2004) Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Neuropediatrics 35:174\u2013182","journal-title":"Neuropediatrics"},{"key":"346_CR24","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00401-005-1056-y","volume":"110","author":"A Diers","year":"2005","unstructured":"Diers\u00a0A, Kaczinski\u00a0M, Grohmann\u00a0K, Hubner\u00a0C, Stoltenburg-Didinger\u00a0G (2005) The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). Acta Neuropathol (Berl) 110:289\u2013297","journal-title":"Acta Neuropathol (Berl)"},{"key":"346_CR25","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S0387-7604(03)00066-4","volume":"25","author":"AN Prasad","year":"2003","unstructured":"Prasad\u00a0AN, Prasad\u00a0C (2003) The floppy infant: contribution of genetic and metabolic disorders. Brain Dev 25:457\u2013476","journal-title":"Brain Dev"},{"key":"346_CR26","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S0387-7604(02)00168-7","volume":"25","author":"HM Johnston","year":"2003","unstructured":"Johnston\u00a0HM (2003) The floppy weak infant revisited. Brain Dev 25:155\u2013158","journal-title":"Brain Dev"},{"key":"346_CR27","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1177\/088307380401900608","volume":"19","author":"D Paro-Panjan","year":"2004","unstructured":"Paro-Panjan\u00a0D, Neubauer\u00a0D (2004) Congenital hypotonia: is there an algorithm? J Child Neurol 19:439\u2013442","journal-title":"J Child Neurol"},{"key":"346_CR28","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/S1015-9584(09)60285-2","volume":"29","author":"T Tiryaki","year":"2006","unstructured":"Tiryaki\u00a0T, Livanelioglu\u00a0Z, Atayurt\u00a0H (2006) Eventration of the diaphragm. Asian J Surg 29:8\u201310","journal-title":"Asian J Surg"},{"key":"346_CR29","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ejcts.2004.10.002","volume":"27","author":"AL Joho-Arreola","year":"2005","unstructured":"Joho-Arreola\u00a0AL, Bauersfeld\u00a0U, Stauffer\u00a0UG, Baenziger\u00a0O, Bernet\u00a0V (2005) Incidence and treatment of diaphragmatic paralysis after cardiac surgery in children. Eur J Cardiothorac Surg 27:53\u201357","journal-title":"Eur J Cardiothorac Surg"},{"key":"346_CR30","first-page":"315","volume":"8","author":"J Deslauriers","year":"1998","unstructured":"Deslauriers\u00a0J (1998) Eventration of the diaphragm. Chest Surg Clin N Am 8:315\u2013330","journal-title":"Chest Surg Clin N Am"},{"key":"346_CR31","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1002\/pd.964","volume":"24","author":"F Sangiuolo","year":"2004","unstructured":"Sangiuolo\u00a0F, Filareto\u00a0A, Giardina\u00a0E, Nardone\u00a0AM, Pilu\u00a0G, Pietropolli\u00a0A, Bertini\u00a0E, Novelli\u00a0G (2004) Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a\u00a0twin pregnancy. Prenat Diagn 24:839\u2013841","journal-title":"Prenat Diagn"},{"key":"346_CR32","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.prrv.2005.06.003","volume":"6","author":"AK Simonds","year":"2005","unstructured":"Simonds\u00a0AK (2005) Ethical aspects of home long term ventilation in children with neuromuscular disease. Paediatr Respir Rev 6:209\u2013214","journal-title":"Paediatr Respir Rev"},{"key":"346_CR33","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/j.1469-8749.2004.tb01019.x","volume":"46","author":"RE Appleton","year":"2004","unstructured":"Appleton\u00a0RE, Hubner\u00a0C, Grohmann\u00a0K, Varon\u00a0R (2004) Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol 46:576","journal-title":"Dev Med Child Neurol"},{"key":"346_CR34","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1136\/adc.88.10.848","volume":"88","author":"MK Hardart","year":"2003","unstructured":"Hardart\u00a0MK, Truog\u00a0RD (2003) Spinal muscular atrophy-type I. Arch Dis Child 88:848\u2013850","journal-title":"Arch Dis Child"}],"container-title":["Intensive Care Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00134-006-0346-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00134-006-0346-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00134-006-0346-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,8]],"date-time":"2023-05-08T19:55:38Z","timestamp":1683575738000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00134-006-0346-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,9]]},"references-count":34,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2006,10,19]]}},"alternative-id":["346"],"URL":"https:\/\/doi.org\/10.1007\/s00134-006-0346-8","relation":{},"ISSN":["0342-4642","1432-1238"],"issn-type":[{"value":"0342-4642","type":"print"},{"value":"1432-1238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,9]]}}}