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Journal Abstract Search

219 related items for PubMed ID: 17873513

  • 21. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
    Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE.
    Circulation; 2005 Sep 13; 112(11):1612-7. PubMed ID: 16144992
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  • 22. Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.
    Cottinet SL, Bergemer-Fouquet AM, Toutain A, Sabourdy F, Maakaroun-Vermesse Z, Levade T, Chantepie A, Labarthe F.
    J Inherit Metab Dis; 2011 Apr 13; 34(2):515-22. PubMed ID: 21161685
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  • 25. Danon disease: case report and detection of new mutation.
    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.
    J Inherit Metab Dis; 2009 Dec 13; 32 Suppl 1():S115-22. PubMed ID: 19588270
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  • 28. Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study.
    Ishibashi-Ueda H, Imakita M, Yutani C, Takahashi S, Yazawa K, Kamiya T, Nonaka I.
    Hum Pathol; 1990 Jan 13; 21(1):77-82. PubMed ID: 2295510
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  • 29. Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.
    Fu L, Luo S, Cai S, Hong W, Guo Y, Wu J, Liu T, Zhao C, Li F, Huang H, Huang M, Wang J.
    Am J Cardiol; 2016 Sep 15; 118(6):888-894. PubMed ID: 27460667
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  • 31. A new congenital form of X-linked autophagic vacuolar myopathy.
    Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
    Neurology; 2005 Oct 11; 65(7):1132-4. PubMed ID: 16217076
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  • 33. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.
    Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, Saftig P, von Figura K, Hirano M, Ueno S, Nonaka I, Nishino I.
    J Neuropathol Exp Neurol; 2005 Jun 11; 64(6):513-22. PubMed ID: 15977643
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  • 36. [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies].
    Nishino I.
    Rinsho Shinkeigaku; 2010 Jan 11; 50(1):1-6. PubMed ID: 20120346
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  • 37. [Morphological and clinical aspects of Danon disease].
    Fidziańska A, Walczak E, Walski M, Wiśniewska E, Wagner T, Kuch M.
    Kardiol Pol; 2008 Mar 11; 66(3):302-6. PubMed ID: 18393115
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  • 38. Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.
    Nemazanyy I, Blaauw B, Paolini C, Caillaud C, Protasi F, Mueller A, Proikas-Cezanne T, Russell RC, Guan KL, Nishino I, Sandri M, Pende M, Panasyuk G.
    EMBO Mol Med; 2013 Jun 11; 5(6):870-90. PubMed ID: 23630012
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  • 39. 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 11; 26(12):890-894. PubMed ID: 27816333
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  • 40. International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
    Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED.
    J Am Coll Cardiol; 2023 Oct 17; 82(16):1628-1647. PubMed ID: 37821174
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