BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 1353343)

  • 1. GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
    Yoshida K; Oshima A; Sakuraba H; Nakano T; Yanagisawa N; Inui K; Okada S; Uyama E; Namba R; Kondo K
    Ann Neurol; 1992 Mar; 31(3):328-32. PubMed ID: 1353343
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
    Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
    Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
    Silva CM; Severini MH; Sopelsa A; Coelho JC; Zaha A; d'Azzo A; Giugliani R
    Hum Mutat; 1999; 13(5):401-9. PubMed ID: 10338095
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
    Zhang S; Bagshaw R; Hilson W; Oho Y; Hinek A; Clarke JT; Callahan JW
    Biochem J; 2000 Jun; 348 Pt 3(Pt 3):621-32. PubMed ID: 10839995
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
    Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
    Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
    Santamaria R; Blanco M; Chabás A; Grinberg D; Vilageliu L
    Clin Genet; 2007 Mar; 71(3):273-9. PubMed ID: 17309651
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
    Caciotti A; Donati MA; Boneh A; d'Azzo A; Federico A; Parini R; Antuzzi D; Bardelli T; Nosi D; Kimonis V; Zammarchi E; Morrone A
    Hum Mutat; 2005 Mar; 25(3):285-92. PubMed ID: 15714521
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
    Hofer D; Paul K; Fantur K; Beck M; Bürger F; Caillaud C; Fumic K; Ledvinova J; Lugowska A; Michelakakis H; Radeva B; Ramaswami U; Plecko B; Paschke E
    Hum Mutat; 2009 Aug; 30(8):1214-21. PubMed ID: 19472408
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
    Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; D'Azzo A
    Hum Mutat; 2004 Oct; 24(4):352. PubMed ID: 15365997
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
    Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
    Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.
    Suzuki Y; Sakuraba H; Oshima A; Yoshida K; Shimmoto M; Takano T; Fukuhara Y
    Dev Neurosci; 1991; 13(4-5):299-303. PubMed ID: 1817034
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Two siblings of type 3 GM1 gangliosidosis with different clinical features and different ages of onset].
    Yamashita M; Yamasaki M; Kusaka H; Imai T; Inui K
    Rinsho Shinkeigaku; 1993 Jun; 33(6):631-6. PubMed ID: 8403683
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
    Muthane U; Chickabasaviah Y; Kaneski C; Shankar SK; Narayanappa G; Christopher R; Govindappa SS
    Mov Disord; 2004 Nov; 19(11):1334-41. PubMed ID: 15389993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
    Caciotti A; Donati MA; d'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A
    Eur J Paediatr Neurol; 2009 Mar; 13(2):160-4. PubMed ID: 18571950
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
    Yoshida K; Oshima A; Shimmoto M; Fukuhara Y; Sakuraba H; Yanagisawa N; Suzuki Y
    Am J Hum Genet; 1991 Aug; 49(2):435-42. PubMed ID: 1907800
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.
    Celtikçi B; Aydın Hİ; Sivri S; Sönmez M; Topçu M; Ozkara HA
    Clin Biochem; 2012 May; 45(7-8):571-4. PubMed ID: 22234367
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
    Sperb F; Vairo F; Burin M; Mayer FQ; Matte U; Giugliani R
    Gene; 2013 Jan; 512(1):113-6. PubMed ID: 23046582
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].
    Yoshida K; Yanagisawa N
    Nihon Rinsho; 1995 Dec; 53(12):2960-6. PubMed ID: 8577043
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fibroblast screening for chaperone therapy in beta-galactosidosis.
    Iwasaki H; Watanabe H; Iida M; Ogawa S; Tabe M; Higaki K; Nanba E; Suzuki Y
    Brain Dev; 2006 Sep; 28(8):482-6. PubMed ID: 16617000
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.