Publications

Bui QM et al. Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies. J Am Heart Assoc. 2021;10(23):e022544. doi: 10.1161/JAHA.121.022544. Epub 2021 Nov 30. PMID: 34845930; PMCID: PMC9075351.

Hong KN et al. Cardiac Transplantation in Danon Disease. J Card Fail. 2022;28(4):664-669. doi: 10.1016/j.cardfail.2021.11.007. Epub 2021 Nov 11. PMID: 34775111.

Del Favero G et al. Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes. J Clin Med. 2020;9(8):2457. doi: 10.3390/jcm9082457. PMID: 32751926; PMCID: PMC7465084.

Bui QM et al. Apical Sparing Strain Pattern in Danon Disease: Insights From a Global Registry. JACC Cardiovasc Imaging. 2020;13(12):2689-2691. doi: 10.1016/j.jcmg.2020.05.027. Epub 2020 Jul 29. Erratum in: JACC Cardiovasc Imaging. 2021 Jul;14(7):1493. PMID: 32739374.

Taylor MRG et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 32134616.

Brambatti M et al. Danon disease: Gender differences in presentation and outcomes. Int J Cardiol. 2019;286:92-98. doi: 10.1016/j.ijcard.2019.01.020. Epub 2019 Feb 16. PMID: 30857840.

Chi C et al. LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion. Proc Natl Acad Sci U S A. 2019;116(2):556-565. doi: 10.1073/pnas.1808618116. Epub 2018 Dec 24. PMID: 30584088; PMCID: PMC6329949.

D'souza RS et al. Danon disease for the cardiologist: case report and review of the literature. J Community Hosp Intern Med Perspect. 2017;7(2):107-114. doi: 10.1080/20009666.2017.1324239. PMID: 28638575; PMCID: PMC5473185.

Hashem SI et al. Impaired mitophagy facilitates mitochondrial damage in Danon disease. J Mol Cell Cardiol. 2017;108:86-94. doi: 10.1016/j.yjmcc.2017.05.007. Epub 2017 May 16. PMID: 28526246.

Stokes MB et al. Severe left ventricular hypertrophy and marked cardiac fibrosis in Danon disease. Int J Cardiol. 2016;221:14-6. doi: 10.1016/j.ijcard.2016.06.311. Epub 2016 Jul 1. PMID: 27395820.

Rowland TJ et al. Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. J Cell Sci. 2016;129(11):2135-43. doi: 10.1242/jcs.184770. Epub 2016 May 10. PMID: 27165304; PMCID: PMC4920246.

D'souza RS et al. Danon disease: clinical features, evaluation, and management. Circ Heart Fail. 2014;7(5):843-9. doi: 10.1161/CIRCHEARTFAILURE.114.001105. PMID: 25228319; PMCID: PMC4169002.

Miani D et al. Sudden death associated with danon disease in women. Am J Cardiol. 2012;109(3):406-11. doi: 10.1016/j.amjcard.2011.09.024. Epub 2011 Nov 9. PMID: 22074992.

Boucek D et al. Natural history of Danon disease. Genet Med. 2011;13(6):563-8. doi: 10.1097/GIM.0b013e31820ad795. PMID: 21415759.

Stevens-Lapsley JE et al. Functional performance and muscle strength phenotypes in men and women with Danon disease. Muscle Nerve. 2010;42(6):908-14. doi: 10.1002/mus.21811. PMID: 21104865; PMCID: PMC3058480.

Taylor MRG et al. Familial Cardiomyopathy Registry. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 2007;52(10):830-835. doi: 10.1007/s10038-007-0184-8. PMID: 17899313.

Prall FR et al. Ophthalmic manifestations of Danon disease. Ophthalmology. 2006;113(6):1010-3. doi: 10.1016/j.ophtha.2006.02.030. PMID: 16751040.

Cenacchi G et al. Review: Danon disease: Review of natural history and recent advances. Neuropathol Appl Neurobiol. 2020;46(4):303-322. doi: 10.1111/nan.12587. Epub 2019 Nov 25. PMID: 31698507.

Zhai Y et al. Clinical features of Danon disease and insights gained from LAMP-2 deficiency models. Trends Cardiovasc Med. 2023;33(2):81-89. doi: 10.1016/j.tcm.2021.10.012. Epub 2021 Nov 2. PMID: 34737089.

Xu J et al. Danon disease: a case report and literature review. Diagn Pathol. 2021;16(1):39. doi: 10.1186/s13000-021-01100-8. PMID: 33933120; PMCID: PMC8088694.

Di Nora C et al. Heart transplantation in Danon disease: Long term single centre experience and review of the literature. Eur J Med Genet. 2020;63(2):103645. doi: 10.1016/j.ejmg.2019.04.002. Epub 2019 Apr 5. PMID: 30959184.