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Journal Abstract Search

268 related items for PubMed ID: 20513107

  • 1. A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.
    Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH.
    Muscle Nerve; 2010 Jun; 41(6):879-82. PubMed ID: 20513107
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  • 2. Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.
    Bui YK, Renella P, Martinez-Agosto JA, Verity A, Madikians A, Alejos JC.
    Pediatr Transplant; 2008 Mar; 12(2):246-50. PubMed ID: 18282207
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  • 3. Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
    Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C.
    Neuropediatrics; 2005 Oct; 36(5):309-13. PubMed ID: 16217705
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  • 4. 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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  • 6. Danon disease as a cause of autophagic vacuolar myopathy.
    Yang Z, Vatta M.
    Congenit Heart Dis; 2007 Sep 13; 2(6):404-9. PubMed ID: 18377432
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  • 7. Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.
    Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J.
    Gene; 2012 May 01; 498(2):183-95. PubMed ID: 22365987
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  • 8. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.
    Echaniz-Laguna A, Mohr M, Epailly E, Nishino I, Charron P, Richard P, Guiraud-Chaumeil C, Tranchant C.
    Muscle Nerve; 2006 Mar 01; 33(3):393-7. PubMed ID: 16372318
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  • 11. [Morphological and clinical aspects of Danon disease].
    Fidziańska A, Walczak E, Walski M, Wiśniewska E, Wagner T, Kuch M.
    Kardiol Pol; 2008 Mar 01; 66(3):302-6. PubMed ID: 18393115
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  • 16. Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
    Tuñón T, Guerrero D, Urchaga A, Nishino I, Ayuso T, Matsuda Y, Caballero MC, Berjón J, Imizcoz MA.
    Neuromuscul Disord; 2008 Feb 01; 18(2):167-74. PubMed ID: 18061453
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  • 17. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
    Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
    Nature; 2000 Aug 24; 406(6798):906-10. PubMed ID: 10972294
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  • 19. Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.
    Horváth J, Ketelsen UP, Geibel-Zehender A, Boehm N, Olbrich H, Korinthenberg R, Omran H.
    Neuropediatrics; 2003 Jun 24; 34(5):270-3. PubMed ID: 14598234
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  • 20. Danon disease: focusing on heart.
    Cheng Z, Fang Q.
    J Hum Genet; 2012 Jul 24; 57(7):407-10. PubMed ID: 22695892
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