{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:38:32Z","timestamp":1790386712022,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Res Cardiol"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1007\/s00392-011-0345-9","type":"journal-article","created":{"date-parts":[[2011,7,25]],"date-time":"2011-07-25T06:05:43Z","timestamp":1311573943000},"page":"1087-1093","source":"Crossref","is-referenced-by-count":50,"title":["Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma"],"prefix":"10.1007","volume":"100","author":[{"given":"Tatjana","family":"Williams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfram","family":"Machann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leif","family":"K\u00fchler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Hamm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"M\u00fcller-H\u00f6cker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zimmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Ertl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Ritter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meinrad","family":"Beer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jost","family":"Sch\u00f6nberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,7,26]]},"reference":[{"key":"345_CR1","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/S0735-1097(03)00628-4","volume":"42","author":"R Alcalai","year":"2003","unstructured":"Alcalai R, Metzger S, Rosenheck S et al (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 42:319\u2013327","journal-title":"J Am Coll Cardiol"},{"key":"345_CR2","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1016\/j.jacc.2006.10.073","volume":"49","author":"H Ashrafian","year":"2007","unstructured":"Ashrafian H, Watkins H (2007) Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol 49:1251\u20131264","journal-title":"J Am Coll Cardiol"},{"key":"345_CR3","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s00392-011-0295-2","volume":"100","author":"A Azaouagh","year":"2011","unstructured":"Azaouagh A, Churzidse S, Konorza T et al (2011) Arrhythmogenic right ventricular cardiomyopathy\/dysplasia: a review and update. Clin Res Cardiol 100:383\u2013394","journal-title":"Clin Res Cardiol"},{"key":"345_CR4","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/eurheartj\/ehi341","volume":"26","author":"B Bauce","year":"2005","unstructured":"Bauce B, Basso C, Rampazzo A et al (2005) Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 26:1666\u20131675","journal-title":"Eur Heart J"},{"key":"345_CR5","doi-asserted-by":"crossref","unstructured":"Bolling MC, Veenstra MJ, Jonkman MF et al (2010) Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. Br J Dermatol 162:1388\u20131394","DOI":"10.1111\/j.1365-2133.2010.09668.x"},{"key":"345_CR6","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/S0190-9622(98)70317-2","volume":"39","author":"L Carvajal-Huerta","year":"1998","unstructured":"Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39:418\u2013421","journal-title":"J Am Acad Dermatol"},{"key":"345_CR7","doi-asserted-by":"crossref","first-page":"2671","DOI":"10.1161\/CIRCULATIONAHA.106.635128","volume":"114","author":"PE Daubeney","year":"2006","unstructured":"Daubeney PE, Nugent AW, Chondros P et al (2006) Clinical features and outcomes of childhood dilated cardiomyopathy: results from a national population-based study. Circulation 114:2671\u20132678","journal-title":"Circulation"},{"key":"345_CR8","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/ng1461","volume":"36","author":"B Gerull","year":"2004","unstructured":"Gerull B, Heuser A, Wichter T et al (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162\u20131164","journal-title":"Nat Genet"},{"key":"345_CR9","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1086\/496901","volume":"77","author":"MF Jonkman","year":"2005","unstructured":"Jonkman MF, Pasmooij AM, Pasmans SG et al (2005) Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77:653\u2013660","journal-title":"Am J Hum Genet"},{"key":"345_CR10","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1016\/S0140-6736(00)02379-5","volume":"355","author":"G Mckoy","year":"2000","unstructured":"Mckoy G, Protonotarios N, Crosby A et al (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119\u20132124","journal-title":"Lancet"},{"key":"345_CR11","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","volume":"9","author":"EE Norgett","year":"2000","unstructured":"Norgett EE, Hatsell SJ, Carvajal-Huerta L et al (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761\u20132766","journal-title":"Hum Mol Genet"},{"key":"345_CR12","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1038\/sj.jid.5700291","volume":"126","author":"EE Norgett","year":"2006","unstructured":"Norgett EE, Lucke TW, Bowers B et al (2006) Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol 126:1651\u20131654","journal-title":"J Invest Dermatol"},{"key":"345_CR13","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.jacc.2005.03.045","volume":"46","author":"SE Petersen","year":"2005","unstructured":"Petersen SE, Selvanayagam JB, Wiesmann F et al (2005) Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46:101\u2013105","journal-title":"J Am Coll Cardiol"},{"key":"345_CR14","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/hrt.56.4.321","volume":"56","author":"N Protonotarios","year":"1986","unstructured":"Protonotarios N, Tsatsopoulou A, Patsourakos P et al (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 56:321\u2013326","journal-title":"Br Heart J"},{"key":"345_CR15","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/344208","volume":"71","author":"A Rampazzo","year":"2002","unstructured":"Rampazzo A, Nava A, Malacrida S et al (2002) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71:1200\u20131206","journal-title":"Am J Hum Genet"},{"key":"345_CR16","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1086\/321978","volume":"69","author":"J Schonberger","year":"2001","unstructured":"Schonberger J, Seidman CE (2001) Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet 69:249\u2013260","journal-title":"Am J Hum Genet"},{"key":"345_CR17","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1161\/CIRCULATIONAHA.106.660241","volume":"115","author":"S Sen-Chowdhry","year":"2007","unstructured":"Sen-Chowdhry S, Syrris P, Ward D et al (2007) Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia\/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 115:1710\u20131720","journal-title":"Circulation"},{"key":"345_CR18","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1136\/jmg.2005.032904","volume":"43","author":"A Uzumcu","year":"2006","unstructured":"Uzumcu A, Norgett EE, Dindar A et al (2006) Loss of desmoplakin isoform I causes early-onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 43:e5","journal-title":"J Med Genet"}],"container-title":["Clinical Research in Cardiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.springerlink.com\/index\/pdf\/10.1007\/s00392-011-0345-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T08:28:30Z","timestamp":1560414510000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00392-011-0345-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7,26]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["345"],"URL":"https:\/\/doi.org\/10.1007\/s00392-011-0345-9","relation":{},"ISSN":["1861-0684","1861-0692"],"issn-type":[{"value":"1861-0684","type":"print"},{"value":"1861-0692","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7,26]]}}}