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Journal Abstract Search

197 related items for PubMed ID: 9762961

  • 21.
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  • 22. [Recent advances in limb-girdle muscular dystrophy research].
    Nonaka I, Minami N, Chae J, Hayashi YK, Nishino I, Arahata K.
    Rinsho Shinkeigaku; 2001 Dec; 41(12):1194-7. PubMed ID: 12235836
    [Abstract] [Full Text] [Related]

  • 23. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
    Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L.
    Neuromuscul Disord; 2004 Oct; 14(10):659-65. PubMed ID: 15351423
    [Abstract] [Full Text] [Related]

  • 24. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
    Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J.
    Am J Med Genet A; 2004 Mar 01; 125A(2):152-6. PubMed ID: 14981715
    [Abstract] [Full Text] [Related]

  • 25. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
    Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M.
    J Med Genet; 1996 Feb 01; 33(2):97-102. PubMed ID: 8929943
    [Abstract] [Full Text] [Related]

  • 26. The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.
    Vainzof M, de Paula F, Tsanaclis AM, Zatz M.
    J Clin Pathol; 2003 Aug 01; 56(8):624-6. PubMed ID: 12890817
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  • 27.
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  • 28. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.
    Landires I, Núñez-Samudio V, Fernandez J, Sarria C, Villareal V, Córdoba F, Apráez-Ippolito G, Martínez S, Vidal OM, Vélez JI, Arcos-Holzinger M, Landires S, Arcos-Burgos M.
    Genes (Basel); 2020 Jan 25; 11(2):. PubMed ID: 31991774
    [Abstract] [Full Text] [Related]

  • 29. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
    Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J.
    Brain; 1996 Feb 25; 119 ( Pt 1)():295-308. PubMed ID: 8624690
    [Abstract] [Full Text] [Related]

  • 30. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.
    Neurology; 2007 Jun 12; 68(24):2125-8. PubMed ID: 17562833
    [Abstract] [Full Text] [Related]

  • 31. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
    Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M.
    Hum Mol Genet; 1995 Jul 12; 4(7):1163-7. PubMed ID: 8528203
    [Abstract] [Full Text] [Related]

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  • 33.
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  • 34. Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
    Jia Z, Petrounevitch V, Wong A, Moldoveanu T, Davies PL, Elce JS, Beckmann JS.
    Biophys J; 2001 Jun 12; 80(6):2590-6. PubMed ID: 11371436
    [Abstract] [Full Text] [Related]

  • 35. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.
    Pollitt C, Anderson LV, Pogue R, Davison K, Pyle A, Bushby KM.
    Neuromuscul Disord; 2001 Apr 12; 11(3):287-96. PubMed ID: 11297944
    [Abstract] [Full Text] [Related]

  • 36.
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  • 37.
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  • 38. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
    Chou FL, Angelini C, Daentl D, Garcia C, Greco C, Hausmanowa-Petrusewicz I, Fidzianska A, Wessel H, Hoffman EP.
    Neurology; 1999 Mar 23; 52(5):1015-20. PubMed ID: 10102422
    [Abstract] [Full Text] [Related]

  • 39. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.
    Fanin M, Nascimbeni AC, Fulizio L, Angelini C.
    Neuromuscul Disord; 2005 Mar 23; 15(3):218-24. PubMed ID: 15725583
    [Abstract] [Full Text] [Related]

  • 40. Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
    Sorimachi H, Ono Y, Suzuki K.
    Adv Exp Med Biol; 2000 Mar 23; 481():383-95; discussion 395-7. PubMed ID: 10987085
    [Abstract] [Full Text] [Related]

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