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Journal Abstract Search

228 related items for PubMed ID: 18996010

  • 1. Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
    Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V.
    Neuromuscul Disord; 2008 Dec; 18(12):934-41. PubMed ID: 18996010
    [Abstract] [Full Text] [Related]

  • 2. Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies.
    Suriyonplengsaeng C, Dejthevaporn C, Khongkhatithum C, Sanpapant S, Tubthong N, Pinpradap K, Srinark N, Waisayarat J.
    Diagn Pathol; 2017 Feb 20; 12(1):19. PubMed ID: 28219397
    [Abstract] [Full Text] [Related]

  • 3. Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study.
    Anastasi G, Cutroneo G, Trimarchi F, Santoro G, Bruschetta D, Bramanti P, Pisani A, Favaloro A.
    Int J Mol Med; 2004 Dec 20; 14(6):989-99. PubMed ID: 15547664
    [Abstract] [Full Text] [Related]

  • 4. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
    Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, Mokini V.
    Genet Couns; 2011 Dec 20; 22(4):377-83. PubMed ID: 22303798
    [Abstract] [Full Text] [Related]

  • 5. 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 20; 50(6):640-7. PubMed ID: 24742800
    [Abstract] [Full Text] [Related]

  • 6. Beta-sarcoglycan gene mutations in Turkey.
    Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P.
    Acta Myol; 2004 Dec 20; 23(3):154-8. PubMed ID: 15938573
    [Abstract] [Full Text] [Related]

  • 7. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
    Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP.
    Hum Mutat; 2008 Feb 20; 29(2):258-66. PubMed ID: 17994539
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  • 9. 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 20; 14(2):195-8. PubMed ID: 8841194
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 13(10):779-87. PubMed ID: 14678800
    [Abstract] [Full Text] [Related]

  • 11. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
    Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J.
    Brain; 2022 Apr 18; 145(2):596-606. PubMed ID: 34515763
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  • 13. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
    Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ.
    J Neurol; 2000 Jul 18; 247(7):524-9. PubMed ID: 10993494
    [Abstract] [Full Text] [Related]

  • 14. Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.
    Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, Kumagai T, Yagi M, Matsuo M.
    BMC Med Genet; 2010 Mar 30; 11():49. PubMed ID: 20350330
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  • 16. Different outcome of sarcoglycan missense mutation between human and mouse.
    Henriques SF, Patissier C, Bourg N, Fecchio C, Sandona D, Marsolier J, Richard I.
    PLoS One; 2018 Mar 30; 13(1):e0191274. PubMed ID: 29360879
    [Abstract] [Full Text] [Related]

  • 17. Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.
    Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, Bushby K, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 1996 Dec 30; 6(6):467-74. PubMed ID: 9027857
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  • 18. Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.
    Imamura M, Mochizuki Y, Engvall E, Takeda S.
    Hum Mol Genet; 2005 Mar 15; 14(6):775-83. PubMed ID: 15689353
    [Abstract] [Full Text] [Related]

  • 19. Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.
    Oliveira Santos M, Coelho P, Roque R, Conceição I.
    J Clin Neurosci; 2020 Feb 15; 72():471-473. PubMed ID: 31836381
    [Abstract] [Full Text] [Related]

  • 20. Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.
    Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, Crawford TO, McPherson JD, Campbell KP.
    J Biol Chem; 1996 Dec 13; 271(50):32321-9. PubMed ID: 8943294
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