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199 related items for PubMed ID: 33287513
1. [Pathological diagnosis of Danon disease by endomyocardial biopsy]. Li Q, Chen D, Shang JF, Lu JY, Kang JR, Lyu J. Zhonghua Bing Li Xue Za Zhi; 2020 Dec 08; 49(12):1276-1281. PubMed ID: 33287513 [Abstract] [Full Text] [Related]
5. Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report. Novelli V, Bisignani A, Pelargonio G, Primiano G, Narducci ML, Palmieri V, Tiziano FD, Zeppilli P, Servidei S, Crea F, Genuardi M. BMC Cardiovasc Disord; 2020 Apr 05; 20(1):156. PubMed ID: 32248794 [Abstract] [Full Text] [Related]
6. A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease. Türkmen H, Uysal F, Bostan ÖM. Cardiol Young; 2023 Aug 05; 33(8):1448-1450. PubMed ID: 36601912 [Abstract] [Full Text] [Related]
8. Early onset cardiomyopathy in females with Danon disease. Hedberg Oldfors C, Máthé G, Thomson K, Tulinius M, Karason K, Östman-Smith I, Oldfors A. Neuromuscul Disord; 2015 Jun 05; 25(6):493-501. PubMed ID: 25900304 [Abstract] [Full Text] [Related]
9. A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease. Gourzi P, Pantou MP, Gkouziouta A, Kaklamanis L, Tsiapras D, Zygouri C, Constantoulakis P, Adamopoulos S, Degiannis D. Eur J Med Genet; 2019 Jan 05; 62(1):77-80. PubMed ID: 29753918 [Abstract] [Full Text] [Related]
10. Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity. Luo SS, Xi JY, Cai S, Zhao CB, Lu JH, Zhu WH, Lin J, Qiao K, Wang Y, Ye ZR. Clin Neuropathol; 2014 Jan 05; 33(4):284-91. PubMed ID: 24691104 [Abstract] [Full Text] [Related]
11. A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein. Zhou N, Cui J, Zhao W, Jiang Y, Zhu W, Tang L, Li X, Sun M, Pan C, Shu X. Mol Genet Genomic Med; 2019 Mar 05; 7(3):e561. PubMed ID: 30714332 [Abstract] [Full Text] [Related]
12. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P. Cardiovasc Pathol; 2016 Mar 05; 25(5):423-31. PubMed ID: 27497751 [Abstract] [Full Text] [Related]
13. Danon disease due to a novel splice mutation in the LAMP2 gene. Nadeau A, Therrien C, Karpati G, Sinnreich M. Muscle Nerve; 2008 Mar 05; 37(3):338-42. PubMed ID: 18004770 [Abstract] [Full Text] [Related]
14. A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy. Xu J, Wang L, Liu X, Dai Q. Mol Genet Genomic Med; 2019 Oct 05; 7(10):e00941. PubMed ID: 31464081 [Abstract] [Full Text] [Related]
15. Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene. Fidzianska A, Madej-Pilarczyk A, Walczak E, Kuch M. Neuropediatrics; 2013 Oct 05; 44(5):276-80. PubMed ID: 23504560 [Abstract] [Full Text] [Related]
16. Danon disease: a case report and literature review. Xu J, Li Z, Liu Y, Zhang X, Niu F, Zheng H, Wang L, Kang L, Wang K, Xu B. Diagn Pathol; 2021 May 01; 16(1):39. PubMed ID: 33933120 [Abstract] [Full Text] [Related]
17. Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor. Ng KM, Mok PY, Butler AW, Ho JC, Choi SW, Lee YK, Lai WH, Au KW, Lau YM, Wong LY, Esteban MA, Siu CW, Sham PC, Colman A, Tse HF. Circulation; 2016 Nov 01; 134(18):1373-1389. PubMed ID: 27678261 [Abstract] [Full Text] [Related]
18. Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. Cheng Z, Cui Q, Tian Z, Xie H, Chen L, Fang L, Zhu K, Fang Q. Eur Heart J; 2012 Mar 01; 33(5):649-56. PubMed ID: 22108829 [Abstract] [Full Text] [Related]
19. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A. Eur J Pediatr; 2005 Aug 01; 164(8):509-14. PubMed ID: 15889279 [Abstract] [Full Text] [Related]
20. Danon disease: a phenotypic expression of LAMP-2 deficiency. Endo Y, Furuta A, Nishino I. Acta Neuropathol; 2015 Mar 01; 129(3):391-8. PubMed ID: 25589223 [Abstract] [Full Text] [Related] Page: [Next] [New Search]