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Journal Abstract Search

197 related items for PubMed ID: 9762961

  • 41. Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
    Baghdiguian S, Richard I, Martin M, Coopman P, Beckmann JS, Mangeat P, Lefranc G.
    J Mol Med (Berl); 2001 Jun; 79(5-6):254-61. PubMed ID: 11485017
    [Abstract] [Full Text] [Related]

  • 42. Limb girdle muscular dystrophy: reappraisal of a rejected entity.
    van der Kooi AJ, de Visser M, Barth PG.
    Clin Neurol Neurosurg; 1994 Aug; 96(3):209-18. PubMed ID: 7988088
    [Abstract] [Full Text] [Related]

  • 43. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
    Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A.
    Muscle Nerve; 2014 Sep; 50(3):448-53. PubMed ID: 24715573
    [Abstract] [Full Text] [Related]

  • 44. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.
    Bushby KM.
    Hum Mol Genet; 1999 Sep; 8(10):1875-82. PubMed ID: 10469840
    [Abstract] [Full Text] [Related]

  • 45. Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.
    Nakamura A, Yoshida K, Ikeda S.
    Clin Neurol Neurosurg; 2004 Mar; 106(2):122-8. PubMed ID: 15003303
    [Abstract] [Full Text] [Related]

  • 46. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
    Fanin M, Angelini C.
    Muscle Nerve; 2015 Aug; 52(2):163-73. PubMed ID: 25900067
    [Abstract] [Full Text] [Related]

  • 47. 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; 29(2):258-66. PubMed ID: 17994539
    [Abstract] [Full Text] [Related]

  • 48. The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.
    Gordon ES, Hoffman EP.
    Curr Opin Neurol; 2001 Oct; 14(5):567-73. PubMed ID: 11562567
    [Abstract] [Full Text] [Related]

  • 49. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    Pizzanelli C, Mancuso M, Galli R, Choub A, Fanin M, Nascimbeni AC, Siciliano G, Murri L.
    Neurol Sci; 2006 Jun; 27(2):134-6. PubMed ID: 16816913
    [Abstract] [Full Text] [Related]

  • 50. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.
    Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KM.
    Neuromuscul Disord; 2001 Jan; 11(1):80-7. PubMed ID: 11166169
    [Abstract] [Full Text] [Related]

  • 51. Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome?
    Simeoni S, Russo V, Gigli GL, Scalise A.
    J Neurol Sci; 2015 Jan 15; 348(1-2):292-3. PubMed ID: 25528007
    [No Abstract] [Full Text] [Related]

  • 52. Prenatal diagnosis of limb-girdle muscular dystrophy type 2A.
    Restagno G, Romero N, Richard I, Beckmann JS, Pagliano M, Ferrone M, Carbonara A, Merlini L.
    Neuromuscul Disord; 1996 May 15; 6(3):173-6. PubMed ID: 8784805
    [Abstract] [Full Text] [Related]

  • 53. [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].
    Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S.
    Ideggyogy Sz; 2005 Jan 20; 58(1-2):52-8. PubMed ID: 15884399
    [Abstract] [Full Text] [Related]

  • 54. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.
    Muscle Nerve; 2006 Mar 20; 33(3):424-32. PubMed ID: 16372320
    [Abstract] [Full Text] [Related]

  • 55. [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
    Perez F, Vital A, Martin-Negrier ML, Ferrer X, Sole G.
    Rev Neurol (Paris); 2010 May 20; 166(5):502-8. PubMed ID: 20044116
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  • 59. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
    Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.
    BMC Musculoskelet Disord; 2016 May 04; 17():200. PubMed ID: 27142102
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