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Journal Abstract Search

250 related items for PubMed ID: 27497751

  • 21. A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene.
    Zhang Y, Ren H, Zhou S.
    Medicine (Baltimore); 2020 Oct 02; 99(40):e22640. PubMed ID: 33019488
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  • 23. 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
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  • 25. 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 01; 7(3):e561. PubMed ID: 30714332
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  • 26. 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
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  • 27. LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
    Majer F, Piherova L, Reboun M, Stara V, Pelak O, Norambuena P, Stranecky V, Krebsova A, Vlaskova H, Dvorakova L, Kmoch S, Kalina T, Kubanek M, Sikora J.
    Am J Med Genet A; 2018 Nov 01; 176(11):2430-2434. PubMed ID: 30194816
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  • 30. Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy.
    Zaki A, Zaidi A, Newman WG, Garratt CJ.
    J Cardiovasc Electrophysiol; 2013 Sep 01; 24(9):1051-3. PubMed ID: 23577876
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  • 32. Heart transplantation in Danon disease: Long term single centre experience and review of the literature.
    Di Nora C, Miani D, D'Elia AV, Poli S, Iascone M, Nucifora G, Finato N, Sponga S, Proclemer A, Livi U.
    Eur J Med Genet; 2020 Feb 01; 63(2):103645. PubMed ID: 30959184
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  • 33. Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum.
    Hong D, Shi Z, Wang Z, Yuan Y.
    Clin Neuropathol; 2012 Feb 01; 31(4):224-31. PubMed ID: 22541782
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  • 35. A Nationwide Survey on Danon Disease in Japan.
    Sugie K, Komaki H, Eura N, Shiota T, Onoue K, Tsukaguchi H, Minami N, Ogawa M, Kiriyama T, Kataoka H, Saito Y, Nonaka I, Nishino I.
    Int J Mol Sci; 2018 Nov 08; 19(11):. PubMed ID: 30413001
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  • 37. Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene.
    Codron P, Pautot V, Tassin A, Sternberg D, Letournel F, Richard P, Nadaj-Pakleza A.
    Rev Neurol (Paris); 2019 Mar 08; 175(3):201-203. PubMed ID: 30527948
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  • 38. Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.
    Marino M, Musumeci O, Paleologo G, Cucinotta M, Migliorato A, Rodolico C, Toscano A.
    Neuromuscul Disord; 2016 Dec 08; 26(12):890-894. PubMed ID: 27816333
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