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Journal Abstract Search

244 related items for PubMed ID: 16217705

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. Electron microscopic findings in skin biopsies from patients with Danon disease.
    Alroy J, Pfannl R, Slavov D, Taylor MR.
    Ultrastruct Pathol; 2010 Dec; 34(6):333-6. PubMed ID: 21070164
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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; 33(3):393-7. PubMed ID: 16372318
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 13; 18(2):167-74. PubMed ID: 18061453
    [Abstract] [Full Text] [Related]

  • 8. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.
    Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A.
    Neuromuscul Disord; 2005 Jun 13; 15(6):409-11. PubMed ID: 15907287
    [Abstract] [Full Text] [Related]

  • 9. 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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  • 11. 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 Aug 24; 31(4):224-31. PubMed ID: 22541782
    [Abstract] [Full Text] [Related]

  • 12. Danon disease due to a novel splice mutation in the LAMP2 gene.
    Nadeau A, Therrien C, Karpati G, Sinnreich M.
    Muscle Nerve; 2008 Mar 24; 37(3):338-42. PubMed ID: 18004770
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  • 14. Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.
    Di Blasi C, Jarre L, Blasevich F, Dassi P, Mora M.
    Neuromuscul Disord; 2008 Dec 24; 18(12):962-6. PubMed ID: 18990578
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  • 16. 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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  • 18. Danon disease: further clinical and molecular heterogeneity.
    Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons MC, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T.
    Muscle Nerve; 2009 Jun 01; 39(6):837-44. PubMed ID: 19373884
    [Abstract] [Full Text] [Related]

  • 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 01; 34(5):270-3. PubMed ID: 14598234
    [Abstract] [Full Text] [Related]

  • 20. Danon disease: an unusual presentation of autism.
    Burusnukul P, de Los Reyes EC, Yinger J, Boué DR.
    Pediatr Neurol; 2008 Jul 01; 39(1):52-4. PubMed ID: 18555174
    [Abstract] [Full Text] [Related]

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