{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:40:20Z","timestamp":1791099620027,"version":"4.1.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.nmd.2013.11.002","type":"journal-article","created":{"date-parts":[[2013,11,16]],"date-time":"2013-11-16T04:46:48Z","timestamp":1384577208000},"page":"125-133","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":39,"title":["Diaphragmatic dysfunction in Collagen VI myopathies"],"prefix":"10.1016","volume":"24","author":[{"given":"S.","family":"Quijano-Roy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Khirani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Colella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ramirez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Aloui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wehbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"de Becdelievre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.Y.","family":"Carlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Allamand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Azzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Estournet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Fauroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2013.11.002_b0005","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/2044-5040-1-30","article-title":"ColVI myopathies: where do we stand, where do we go?","volume":"1","author":"Allamand","year":"2011","journal-title":"Skeletal Muscle"},{"key":"10.1016\/j.nmd.2013.11.002_b0010","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/BF02864097","article-title":"Kongenitale, atonish-sklerotische muskeldystrophie, ein weiterer typus der heredodegenerativen erkrankungen des neuromuskularen systems","volume":"126","author":"Ullrich","year":"1930","journal-title":"Z Ges Neurol Psychiatr"},{"key":"10.1016\/j.nmd.2013.11.002_b0015","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1212\/WNL.58.9.1354","article-title":"Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study","volume":"58","author":"Mercuri","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2013.11.002_b0020","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1093\/brain\/99.1.91","article-title":"Benign myopathy with autosomal dominant inheritance. a report of three pedigrees","volume":"99","author":"Bethlem","year":"1976","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2013.11.002_b0025","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1164\/rccm.200512-1841OC","article-title":"Respiratory muscle testing: a valuable tool for children with neuromuscular disorders","volume":"174","author":"Nicot","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2013.11.002_b0030","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2002.002311","article-title":"Collagen VI related muscle disorders","volume":"42","author":"Lampe","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2013.11.002_b0035","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1212\/WNL.0b013e3181aae851","article-title":"Natural history of Ullrich congenital muscular dystrophy","volume":"73","author":"Nadeau","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2013.11.002_b0040","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.nmd.2011.06.827","article-title":"Searching for pulmonary outcome measures in \u2018Early onset\u2019 COL6 -related myopathy","volume":"21","author":"Wehbi","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2013.11.002_b0045","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1053\/apmr.2001.18053","article-title":"Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders","volume":"82","author":"Fromageot","year":"2001","journal-title":"Arch Phys Med Rehabil"},{"key":"10.1016\/j.nmd.2013.11.002_b0050","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/ng1270","article-title":"Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency","volume":"35","author":"Irwin","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2013.11.002_b0055","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1093\/hmg\/7.13.2135","article-title":"Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy","volume":"7","author":"Bonaldo","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2013.11.002_b0060","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/ana.22087","article-title":"Early onset collagen VI myopathies: genetic and clinical correlations","volume":"68","author":"Brinas","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2013.11.002_b0065","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.nmd.2007.06.279","article-title":"Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients. 12th International Congress of the World Muscle Society. Giardini Naxos-Taormina Mare, Messina, Sicily Italy","volume":"17","author":"Quijano-Roy","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2013.11.002_b0070","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1177\/0883073810381924","article-title":"international standard of care committee for congenital muscular dystrophy. Consensus statement on standard of care for congenital muscular dystrophies","volume":"25","author":"Wang","year":"2010","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2013.11.002_b0075","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1164\/ajrccm.161.1.9901057","article-title":"Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy","volume":"161","author":"Hukins","year":"2000","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2013.11.002_b0080","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1136\/thx.2004.037424","article-title":"Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia","volume":"60","author":"Ward","year":"2005","journal-title":"Thorax"},{"key":"10.1016\/j.nmd.2013.11.002_b0085","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1212\/01.wnl.0000307749.66438.6d","article-title":"A refined diagnostic algorithm for Bethlem myopathy","volume":"70","author":"Hicks","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2013.11.002_b0090","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1164\/ajrccm.158.2.9710084","article-title":"The tension-time index and the frequency\/tidal volume ratio are the major pathophysiologic determinants of weaning failure and success","volume":"158","author":"Vassilakopoulos","year":"1998","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2013.11.002_b0095","first-page":"287","article-title":"Determination of capillary oxygen tension in infants and children: assessment of methodology and normal values during growth","volume":"14","author":"Gaultier","year":"1978","journal-title":"Bull Eur Physiopath Resp"},{"key":"10.1016\/j.nmd.2013.11.002_b0100","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1183\/09031936.05.00034805","article-title":"Standardisation of spirometry series ATS\/ERS task force: standardisation of lung function testing","volume":"26","author":"Miller","year":"2005","journal-title":"Eur Resp J"},{"key":"10.1016\/j.nmd.2013.11.002_b0105","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1183\/09031936.00050708","article-title":"Sniff nasal inspiratory pressure in children with muscular, chest wall or lung disease","volume":"33","author":"Fauroux","year":"2009","journal-title":"Eur Resp J"},{"key":"10.1016\/j.nmd.2013.11.002_b0110","first-page":"788","article-title":"Simple method for assessing the validity of the esophageal balloon technique","volume":"126","author":"Baydur","year":"1982","journal-title":"Am Rev Respir Dis"},{"key":"10.1016\/j.nmd.2013.11.002_b0115","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1378\/chest.80.5.607","article-title":"Relationship of rib cage and abdomen motion to diaphragm function during quiet breathing","volume":"80","author":"Gilbert","year":"1981","journal-title":"Chest"},{"key":"10.1016\/j.nmd.2013.11.002_b0120","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1164\/rccm.2110016","article-title":"Effect of severe isolated unilateral and bilateral diaphragm weakness on exercise performance","volume":"165","author":"Hart","year":"2002","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2013.11.002_b0125","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1164\/ajrccm\/137.6.1401","article-title":"Respiratory pressure partitioning during quiet inspiration in unilateral and bilateral diaphragmatic weakness","volume":"137","author":"Hillman","year":"1988","journal-title":"Am Rev Respir Dis"},{"key":"10.1016\/j.nmd.2013.11.002_b0130","first-page":"488","article-title":"Inspiratory muscle function in unilateral diaphragmatic paralysis","volume":"134","author":"Lisboa","year":"1986","journal-title":"Am Rev Respir Dis"},{"key":"10.1016\/j.nmd.2013.11.002_b0135","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1152\/jappl.1984.57.1.44","article-title":"Respiratory muscle oxygen consumption estimated by the diaphragm pressure\u2013time index","volume":"57","author":"Field","year":"1984","journal-title":"J Appl Physiol"},{"key":"10.1016\/j.nmd.2013.11.002_b0140","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1164\/rccm.2112059","article-title":"Changes in pulmonary mechanics with increasing disease severity in children and young adults with cystic fibrosis","volume":"166","author":"Hart","year":"2002","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2013.11.002_b0145","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1164\/rccm.200303-334BC","article-title":"Cough gastric pressure and maximum expiratory mouth pressure in humans","volume":"168","author":"Man","year":"2003","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2013.11.002_b0150","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1152\/jappl.1982.53.5.1190","article-title":"Effect of pressure and timing of contraction on human diaphragm fatigue","volume":"53","author":"Bellemare","year":"1982","journal-title":"J Appl Physiol"},{"key":"10.1016\/j.nmd.2013.11.002_b0155","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0009-9260(66)80128-9","article-title":"Diaphragm movements and the diagnosis of diaphragmatic paralysis","volume":"17","author":"Alexander","year":"1966","journal-title":"Clin Radiol"},{"key":"10.1016\/j.nmd.2013.11.002_b0160","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1097\/00000542-199506000-00002","article-title":"Inferences about respiratory muscle use after cardiac surgery from compartmental volume and pressure measurements","volume":"82","author":"Clergue","year":"1995","journal-title":"Anesthesiology"},{"issue":"Suppl. 2","key":"10.1016\/j.nmd.2013.11.002_b0165","doi-asserted-by":"crossref","first-page":"S68","DOI":"10.1016\/j.nmd.2012.08.003","article-title":"WB-MRI muscle study group. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders","volume":"22","author":"Quijano-Roy","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2013.11.002_b0170","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/adc.2009.177832","article-title":"Outcome of goal-directed non-invasive ventilation and mechanical insufflation\/exsuffl ation in spinal muscular atrophy type I","volume":"96","author":"Chatwin","year":"2011","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.nmd.2013.11.002_b0175","first-page":"866","article-title":"The short-term effects of intermittent positive pressure breathing treatments on ventilation in patients with neuromuscular disease","volume":"55","author":"Gu\u00e9rin","year":"2010","journal-title":"Respir Care"},{"key":"10.1016\/j.nmd.2013.11.002_b0180","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1183\/09031936.00122610","article-title":"Daytime predictors of sleep-disordered breathing in neuromuscular patients to better schedule polysomnography","volume":"37","author":"Lofaso","year":"2011","journal-title":"Eur Resp J"},{"key":"10.1016\/j.nmd.2013.11.002_b0185","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1183\/09031936.02.00752002","article-title":"Polysomnography for the management of progressive neuromuscular disorders","volume":"19","author":"Lofaso","year":"2002","journal-title":"Eur Resp J"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896613009930?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896613009930?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:01:53Z","timestamp":1760774513000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896613009930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0960896613009930"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2013.11.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diaphragmatic dysfunction in Collagen VI myopathies","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2013.11.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}