BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

55 related articles for article (PubMed ID: 15907287)

  • 1. 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; 15(6):409-11. PubMed ID: 15907287
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Paediatric hypertrophic cardiomyopathy secondary to Danon disease.
    Tang K; Wu J; Liu X; Wang S
    Cardiol Young; 2024 Jan; 34(1):201-204. PubMed ID: 37990583
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hypertrophic cardiomyopathy secondary to deficiency in lysosome-associated membrane protein-2: A case report.
    Zhao YT; Cao XQ; Mu XL
    World J Cardiol; 2023 Nov; 15(11):609-614. PubMed ID: 38058400
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A systematic approach to assessing the clinical significance of genetic variants.
    Duzkale H; Shen J; McLaughlin H; Alfares A; Kelly MA; Pugh TJ; Funke BH; Rehm HL; Lebo MS
    Clin Genet; 2013 Nov; 84(5):453-63. PubMed ID: 24033266
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 32(11):1355.e23-1355.e30. PubMed ID: 27179547
    [TBL] [Abstract][Full Text] [Related]  

  • 6. LAMP2 microdeletions in patients with Danon disease.
    Yang Z; Funke BH; Cripe LH; Vick GW; Mancini-Dinardo D; Peña LS; Kanter RJ; Wong B; Westerfield BH; Varela JJ; Fan Y; Towbin JA; Vatta M
    Circ Cardiovasc Genet; 2010 Apr; 3(2):129-37. PubMed ID: 20173215
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.
    Gourzi P; Pantou MP; Gkouziouta A; Kaklamanis L; Tsiapras D; Zygouri C; Constantoulakis P; Adamopoulos S; Degiannis D
    Eur J Med Genet; 2019 Jan; 62(1):77-80. PubMed ID: 29753918
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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; 18(2):167-74. PubMed ID: 18061453
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2.
    Eskelinen EL; Cuervo AM; Taylor MR; Nishino I; Blum JS; Dice JF; Sandoval IV; Lippincott-Schwartz J; August JT; Saftig P
    Traffic; 2005 Nov; 6(11):1058-61. PubMed ID: 16190986
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.
    Burban A; Pucyło S; Sikora A; Opolski G; Grabowski M; Kołodzińska A
    Int J Mol Sci; 2023 Aug; 24(17):. PubMed ID: 37686045
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MYTHO is a novel regulator of skeletal muscle autophagy and integrity.
    Leduc-Gaudet JP; Franco-Romero A; Cefis M; Moamer A; Broering FE; Milan G; Sartori R; Chaffer TJ; Dulac M; Marcangeli V; Mayaki D; Huck L; Shams A; Morais JA; Duchesne E; Lochmuller H; Sandri M; Hussain SNA; Gouspillou G
    Nat Commun; 2023 Mar; 14(1):1199. PubMed ID: 36864049
    [TBL] [Abstract][Full Text] [Related]  

  • 15.
    Alcalai R; Arad M; Wakimoto H; Yadin D; Gorham J; Wang L; Burns E; Maron BJ; Roberts WC; Konno T; Conner DA; Perez-Atayde AR; Seidman JG; Seidman CE
    J Am Heart Assoc; 2021 Sep; 10(17):e018829. PubMed ID: 34459252
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 7(10):e00941. PubMed ID: 31464081
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Danon disease: clinical features, evaluation, and management.
    D'souza RS; Levandowski C; Slavov D; Graw SL; Allen LA; Adler E; Mestroni L; Taylor MR
    Circ Heart Fail; 2014 Sep; 7(5):843-9. PubMed ID: 25228319
    [No Abstract]   [Full Text] [Related]  

  • 18. Genomics and genetics in the biology of adaptation to exercise.
    Bouchard C; Rankinen T; Timmons JA
    Compr Physiol; 2011 Jul; 1(3):1603-48. PubMed ID: 23733655
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 34(2):515-22. PubMed ID: 21161685
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 3.