BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

265 related articles for article (PubMed ID: 30413001)

  • 1. 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; 19(11):. PubMed ID: 30413001
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 36(6):561-565. PubMed ID: 27145725
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Danon disease: a phenotypic expression of LAMP-2 deficiency.
    Endo Y; Furuta A; Nishino I
    Acta Neuropathol; 2015 Mar; 129(3):391-8. PubMed ID: 25589223
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene.
    Fidzianska A; Madej-Pilarczyk A; Walczak E; Kuch M
    Neuropediatrics; 2013 Oct; 44(5):276-80. PubMed ID: 23504560
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 118(6):888-894. PubMed ID: 27460667
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 7(3):e561. PubMed ID: 30714332
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 82(16):1628-1647. PubMed ID: 37821174
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
    Fanin M; Nascimbeni AC; Fulizio L; Spinazzi M; Melacini P; Angelini C
    Am J Pathol; 2006 Apr; 168(4):1309-20. PubMed ID: 16565504
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Danon disease as a cause of autophagic vacuolar myopathy.
    Yang Z; Vatta M
    Congenit Heart Dis; 2007; 2(6):404-9. PubMed ID: 18377432
    [TBL] [Abstract][Full Text] [Related]  

  • 12. LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease.
    Rothaug M; Stroobants S; Schweizer M; Peters J; Zunke F; Allerding M; D'Hooge R; Saftig P; Blanz J
    Acta Neuropathol Commun; 2015 Jan; 3():6. PubMed ID: 25637286
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 112(11):1612-7. PubMed ID: 16144992
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 406(6798):906-10. PubMed ID: 10972294
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease.
    Türkmen H; Uysal F; Bostan ÖM
    Cardiol Young; 2023 Aug; 33(8):1448-1450. PubMed ID: 36601912
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Danon disease due to a novel splice mutation in the LAMP2 gene.
    Nadeau A; Therrien C; Karpati G; Sinnreich M
    Muscle Nerve; 2008 Mar; 37(3):338-42. PubMed ID: 18004770
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 26(12):890-894. PubMed ID: 27816333
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 18(12):962-6. PubMed ID: 18990578
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 25(5):423-31. PubMed ID: 27497751
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.