Below are the most recent publications written about "Glycogen Storage Disease Type IIb" by people in Profiles.
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Chi C, Leonard A, Knight WE, Beussman KM, Zhao Y, Cao Y, Londono P, Aune E, Trembley MA, Small EM, Jeong MY, Walker LA, Xu H, Sniadecki NJ, Taylor MR, Buttrick PM, Song K. LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion. Proc Natl Acad Sci U S A. 2019 01 08; 116(2):556-565.
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Ramratnam M, Sharma RK, D'Auria S, Lee SJ, Wang D, Huang XY, Ahmad F. Transgenic knockdown of cardiac sodium/glucose cotransporter 1 (SGLT1) attenuates PRKAG2 cardiomyopathy, whereas transgenic overexpression of cardiac SGLT1 causes pathologic hypertrophy and dysfunction in mice. J Am Heart Assoc. 2014 Aug 04; 3(4).
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Nakamura K, Hirano K, Wu SM. iPS cell modeling of cardiometabolic diseases. J Cardiovasc Transl Res. 2013 Feb; 6(1):46-53.
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Alroy J, Pfannl R, Slavov D, Taylor MR. Electron microscopic findings in skin biopsies from patients with Danon disease. Ultrastruct Pathol. 2010 Dec; 34(6):333-6.
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Yang Z, Funke BH, Cripe LH, Vick GW, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M. LAMP2 microdeletions in patients with Danon disease. Circ Cardiovasc Genet. 2010 Apr; 3(2):129-37.
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Regelsberger G, Höftberger R, Pickl WF, Zlabinger GJ, Körmöczi U, Salzer-Muhar U, Luckner D, Bodamer OA, Mayr JA, Muss WH, Budka H, Bernheimer H. Danon disease: case report and detection of new mutation. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S115-22.
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Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, Almquist AK, Baffa JM, Saul JP, Ho CY, Seidman J, Seidman CE. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009 Mar 25; 301(12):1253-9.
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Wolf CM, Arad M, Ahmad F, Sanbe A, Bernstein SA, Toka O, Konno T, Morley G, Robbins J, Seidman JG, Seidman CE, Berul CI. Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations. Circulation. 2008 Jan 15; 117(2):144-54.