These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

472 related articles for article (PubMed ID: 12040521)

  • 1. [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].
    Eirís-Puñal J; Pintos-Martínez E; Lasa A; Gallano P; Castro-Gago M
    Rev Neurol; 2002 Mar 1-15; 34(5):486-9. PubMed ID: 12040521
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].
    García-García D; Teijeira-Bautista S; Fernández-Rodríguez JM; Flores-Calvete J; Sánchez-Espíldora P; Fernández-Couto D; Cimas-Hernando I; Teijeiro-Ferreira A; Fernández-Hojas R; Brasa-Fernández Fierros J; Martínez de Alegría A; Escribano-Arias JL; Núñez-Delgado M; Navarro-Fernández Balbuena C
    Rev Neurol; 1998 Jun; 26(154):905-11. PubMed ID: 9658457
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.
    Lasa A; Piccolo F; de Diego C; Jeanpierre M; Colomer J; Rodríguez MJ; Urtizberea JA; Baiget M; Kaplan J; Gallano P
    Eur J Hum Genet; 1998; 6(4):396-9. PubMed ID: 9781048
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects.
    Handa V; Mital A; Gupta M; Goyle S
    Neurol India; 2001 Mar; 49(1):19-24. PubMed ID: 11303236
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy].
    Akaike M; Kawai H
    Rinsho Byori; 1997 Feb; 45(2):136-40. PubMed ID: 9120997
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].
    Endo T; Akaike M; Kawai H; Matsumura K; Saito S
    Rinsho Shinkeigaku; 1996 Mar; 36(3):415-22. PubMed ID: 8741343
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].
    Hayashi YK; Arahata K
    Nihon Rinsho; 1997 Dec; 55(12):3165-8. PubMed ID: 9436429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Gamma-sarcoglycanopathy:two new cases in a gypsy family family in Spain].
    García-Morales I; Galán L; Mateos F; Simón R; Morales P; Cabello A; Gómez-Escalonilla C
    Rev Neurol; 1999 Aug 16-31; 29(4):299-301. PubMed ID: 10797913
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sarcoglycans in muscular dystrophy.
    Hack AA; Groh ME; McNally EM
    Microsc Res Tech; 2000 Feb 1-15; 48(3-4):167-80. PubMed ID: 10679964
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].
    Matsumura K
    Nihon Rinsho; 1997 Dec; 55(12):3154-8. PubMed ID: 9436427
    [TBL] [Abstract][Full Text] [Related]  

  • 11. C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.
    Todorova A; Ashikov A; Beltcheva O; Tournev I; Kremensky I
    Hum Mutat; 1999; 14(1):40-4. PubMed ID: 10447257
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sarcoglycan complex: a muscular supporter of dystroglycan-dystrophin interplay?
    Matsumura K; Saito F; Yamada H; Hase A; Sunada Y; Shimizu T
    Cell Mol Biol (Noisy-le-grand); 1999 Sep; 45(6):751-62. PubMed ID: 10541473
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations in three patients with LGMD2C with phenotypic differences.
    Vermeer S; Verrips A; Willemsen MA; ter Laak HJ; Ginjaar IB; Hamel BC
    Pediatr Neurol; 2004 Apr; 30(4):291-4. PubMed ID: 15087111
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
    Ljunggren A; Duggan D; McNally E; Boylan KB; Gama CH; Kunkel LM; Hoffman EP
    Ann Neurol; 1995 Sep; 38(3):367-72. PubMed ID: 7668821
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.
    Duggan DJ; Hoffman EP
    Neuromuscul Disord; 1996 Dec; 6(6):475-82. PubMed ID: 9027858
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
    Duggan DJ; Manchester D; Stears KP; Mathews DJ; Hart C; Hoffman EP
    Neurogenetics; 1997 May; 1(1):49-58. PubMed ID: 10735275
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
    Kawai H; Akaike M; Endo T; Adachi K; Inui T; Mitsui T; Kashiwagi S; Fujiwara T; Okuno S; Shin S
    J Clin Invest; 1995 Sep; 96(3):1202-7. PubMed ID: 7657792
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses.
    Côté PD; Moukhles H; Lindenbaum M; Carbonetto S
    Nat Genet; 1999 Nov; 23(3):338-42. PubMed ID: 10610181
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.
    van der Kooi AJ; de Visser M; van Meegen M; Ginjaar HB; van Essen AJ; Jennekens FG; Jongen PJ; Leschot NJ; Bolhuis PA
    Neuromuscul Disord; 1998 Jun; 8(5):305-8. PubMed ID: 9673983
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
    Romero NB; Tomé FM; Leturcq F; el Kerch FE; Azibi K; Bachner L; Anderson RD; Roberds SL; Campbell KP; Fardeau M
    C R Acad Sci III; 1994 Jan; 317(1):70-6. PubMed ID: 7987694
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.