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Journal Abstract Search

187 related items for PubMed ID: 26748608

  • 1. The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.
    Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A.
    Clin Genet; 2016 Oct; 90(4):366-71. PubMed ID: 26748608
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  • 2. 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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  • 3. A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.
    Xu J, Wang L, Liu X, Dai Q.
    Mol Genet Genomic Med; 2019 Oct 01; 7(10):e00941. PubMed ID: 31464081
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  • 4. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
    Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P.
    Cardiovasc Pathol; 2016 Oct 01; 25(5):423-31. PubMed ID: 27497751
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  • 8. Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
    Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S.
    Neuropathology; 2016 Dec 01; 36(6):561-565. PubMed ID: 27145725
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  • 10. 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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  • 11. Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
    Csányi B, Popoiu A, Hategan L, Hegedűs Z, Nagy V, Rácz K, Hőgye M, Sághy L, Iványi B, Csanády M, Forster T, Sepp R.
    Can J Cardiol; 2016 Nov 01; 32(11):1355.e23-1355.e30. PubMed ID: 27179547
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  • 13. Danon disease: a case report and literature review.
    Xu J, Li Z, Liu Y, Zhang X, Niu F, Zheng H, Wang L, Kang L, Wang K, Xu B.
    Diagn Pathol; 2021 May 01; 16(1):39. PubMed ID: 33933120
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  • 14. Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.
    Luo SS, Xi JY, Cai S, Zhao CB, Lu JH, Zhu WH, Lin J, Qiao K, Wang Y, Ye ZR.
    Clin Neuropathol; 2014 May 01; 33(4):284-91. PubMed ID: 24691104
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  • 15. 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 01; 18(12):962-6. PubMed ID: 18990578
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  • 16. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).
    Yardeni M, Weisman O, Mandel H, Weinberger R, Quarta G, Salazar-Mendiguchía J, Garcia-Pavia P, Lobato-Rodríguez MJ, Simon LF, Dov F, Arad M, Gothelf D.
    Am J Med Genet A; 2017 Sep 01; 173(9):2461-2466. PubMed ID: 28627787
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  • 17. Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.
    Fu D, Wang S, Luo Y, Wu S, Peng D.
    ESC Heart Fail; 2023 Aug 01; 10(4):2479-2486. PubMed ID: 37277924
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  • 19. Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
    Novelli V, Bisignani A, Pelargonio G, Primiano G, Narducci ML, Palmieri V, Tiziano FD, Zeppilli P, Servidei S, Crea F, Genuardi M.
    BMC Cardiovasc Disord; 2020 Apr 05; 20(1):156. PubMed ID: 32248794
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