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 *

140 related articles for article (PubMed ID: 14595658)

  • 1. On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.
    Fischer D; Aurino S; Nigro V; Schröder R
    Ann Neurol; 2003 Nov; 54(5):674-8. PubMed ID: 14595658
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.
    Quinlivan RM; Robb SA; Sewry C; Dubowitz V; Piccolo F; Kaplan JC
    Dev Med Child Neurol; 1997 Nov; 39(11):770-4. PubMed ID: 9393893
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
    Angelini C; Fanin M; Menegazzo E; Freda MP; Duggan DJ; Hoffman EP
    Muscle Nerve; 1998 Jun; 21(6):769-75. PubMed ID: 9585331
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the sarcoglycan genes in patients with myopathy.
    Duggan DJ; Gorospe JR; Fanin M; Hoffman EP; Angelini C
    N Engl J Med; 1997 Feb; 336(9):618-24. PubMed ID: 9032047
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
    Bönnemann CG; Passos-Bueno MR; McNally EM; Vainzof M; de Sá Moreira E; Marie SK; Pavanello RC; Noguchi S; Ozawa E; Zatz M; Kunkel LM
    Hum Mol Genet; 1996 Dec; 5(12):1953-61. PubMed ID: 8968749
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. [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]  

  • 9. New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.
    Higuchi I; Iwaki H; Kawai H; Endo T; Kunishige M; Fukunaga H; Nakagawa M; Arimura K; Osame M
    J Neurol Sci; 1997 Dec; 153(1):100-5. PubMed ID: 9455986
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
    Nigro V; de Sá Moreira E; Piluso G; Vainzof M; Belsito A; Politano L; Puca AA; Passos-Bueno MR; Zatz M
    Nat Genet; 1996 Oct; 14(2):195-8. PubMed ID: 8841194
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
    McNally EM; Duggan D; Gorospe JR; Bönnemann CG; Fanin M; Pegoraro E; Lidov HG; Noguchi S; Ozawa E; Finkel RS; Cruse RP; Angelini C; Kunkel LM; Hoffman EP
    Hum Mol Genet; 1996 Nov; 5(11):1841-7. PubMed ID: 8923014
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
    Moreira ES; Vainzof M; Marie SK; Nigro V; Zatz M; Passos-Bueno MR
    J Med Genet; 1998 Nov; 35(11):951-3. PubMed ID: 9832045
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].
    Endo T; Kawai H
    Nihon Rinsho; 1997 Dec; 55(12):3159-64. PubMed ID: 9436428
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.
    Barresi R; Di Blasi C; Negri T; Brugnoni R; Vitali A; Felisari G; Salandi A; Daniel S; Cornelio F; Morandi L; Mora M
    J Med Genet; 2000 Feb; 37(2):102-7. PubMed ID: 10662809
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
    Kefi M; Amouri R; Driss A; Ben Hamida C; Ben Hamida M; Kunkel LM; Hentati F
    Neuromuscul Disord; 2003 Dec; 13(10):779-87. PubMed ID: 14678800
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
    Diniz G; Tosun Yildirim H; Akinci G; Hazan F; Ozturk A; Yararbas K; Tukun A
    Pediatr Neurol; 2014 Jun; 50(6):640-7. PubMed ID: 24742800
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
    McNally EM; Passos-Bueno MR; Bönnemann CG; Vainzof M; de Sá Moreira E; Lidov HG; Othmane KB; Denton PH; Vance JM; Zatz M; Kunkel LM
    Am J Hum Genet; 1996 Nov; 59(5):1040-7. PubMed ID: 8900232
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. [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]  

    [Next]    [New Search]
    of 7.