BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

615 related articles for article (PubMed ID: 10972294)

  • 1. 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]  

  • 2. Disease model: LAMP-2 enlightens Danon disease.
    Saftig P; Tanaka Y; Lüllmann-Rauch R; von Figura K
    Trends Mol Med; 2001 Jan; 7(1):37-9. PubMed ID: 11427988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Autophagic vacuolar myopathy in twin girls.
    Holton JL; Beesley C; Jackson M; Venner K; Bhardwaj N; Winchester B; Al-Memar A
    Neuropathol Appl Neurobiol; 2006 Jun; 32(3):253-9. PubMed ID: 16640643
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.
    Tanaka Y; Guhde G; Suter A; Eskelinen EL; Hartmann D; Lüllmann-Rauch R; Janssen PM; Blanz J; von Figura K; Saftig P
    Nature; 2000 Aug; 406(6798):902-6. PubMed ID: 10972293
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Autophagic vacuolar myopathy.
    Nishino I
    Semin Pediatr Neurol; 2006 Jun; 13(2):90-5. PubMed ID: 17027858
    [TBL] [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; 15(6):409-11. PubMed ID: 15907287
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [Danon disease].
    Nishino I
    Ryoikibetsu Shokogun Shirizu; 2001; (36):225-9. PubMed ID: 11596375
    [No Abstract]   [Full Text] [Related]  

  • 11. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
    Lobrinus JA; Schorderet DF; Payot M; Jeanrenaud X; Bottani A; Superti-Furga A; Schlaepfer J; Fromer M; Jeannet PY
    Neuromuscul Disord; 2005 Apr; 15(4):293-8. PubMed ID: 15792868
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Infantile autophagic vacuolar myopathy is distinct from Danon disease.
    Yamamoto A; Morisawa Y; Verloes A; Murakami N; Hirano M; Nonaka I; Nishino I
    Neurology; 2001 Sep; 57(5):903-5. PubMed ID: 11552028
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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; 34(5):270-3. PubMed ID: 14598234
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Morphological and clinical aspects of Danon disease].
    Fidziańska A; Walczak E; Walski M; Wiśniewska E; Wagner T; Kuch M
    Kardiol Pol; 2008 Mar; 66(3):302-6. PubMed ID: 18393115
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
    Lacoste-Collin L; Garcia V; Uro-Coste E; Arné-Bes MC; Durand D; Levade T; Delisle MB
    Neuromuscul Disord; 2002 Nov; 12(9):882-5. PubMed ID: 12398843
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinicopathological features of genetically confirmed Danon disease.
    Sugie K; Yamamoto A; Murayama K; Oh SJ; Takahashi M; Mora M; Riggs JE; Colomer J; Iturriaga C; Meloni A; Lamperti C; Saitoh S; Byrne E; DiMauro S; Nonaka I; Hirano M; Nishino I
    Neurology; 2002 Jun; 58(12):1773-8. PubMed ID: 12084876
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation].
    Kawamura H; Shimojo S; Nonaka I; Abe M; Tadokoro M
    Rinsho Shinkeigaku; 2000 Mar; 40(3):259-62. PubMed ID: 10885338
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 31.