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Journal Abstract Search

265 related items for PubMed ID: 11166169

  • 1.
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  • 2. Dysferlin protein analysis in limb-girdle muscular dystrophies.
    Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.
    J Mol Neurosci; 2001 Aug; 17(1):71-80. PubMed ID: 11665864
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  • 4. Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
    Olby NJ, Sharp NJ, Anderson LV, Kunkel LM, Bönnemann CG.
    Neuromuscul Disord; 2001 Jan; 11(1):41-9. PubMed ID: 11166165
    [Abstract] [Full Text] [Related]

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

  • 6. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
    Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
    J Neurol Sci; 2003 Jul 15; 211(1-2):23-8. PubMed ID: 12767493
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  • 8. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
    Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H.
    Neuromuscul Disord; 2003 Dec 15; 13(10):771-8. PubMed ID: 14678799
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  • 10. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.
    Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F.
    Neuromuscul Disord; 2000 Jun 15; 10(4-5):240-6. PubMed ID: 10838249
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  • 11. Molecular bases of autosomal recessive limb-girdle muscular dystrophies.
    Nigro V.
    Acta Myol; 2003 Sep 15; 22(2):35-42. PubMed ID: 14959561
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  • 13. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
    McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z.
    Am J Med Genet; 2000 Apr 10; 91(4):305-12. PubMed ID: 10766988
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  • 14. [Recent advances in limb-girdle muscular dystrophy research].
    Nonaka I, Minami N, Chae J, Hayashi YK, Nishino I, Arahata K.
    Rinsho Shinkeigaku; 2001 Dec 10; 41(12):1194-7. PubMed ID: 12235836
    [Abstract] [Full Text] [Related]

  • 15. Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.
    Duggan DJ, Hoffman EP.
    Neuromuscul Disord; 1996 Dec 10; 6(6):475-82. PubMed ID: 9027858
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  • 16. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
    Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K.
    Nat Genet; 1998 Sep 10; 20(1):37-42. PubMed ID: 9731527
    [Abstract] [Full Text] [Related]

  • 17. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
    Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP.
    Hum Mol Genet; 2000 Aug 12; 9(13):2019-27. PubMed ID: 10942431
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  • 18. Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
    Mojbafan M, Bahmani R, Bagheri SD, Sharifi Z, Zeinali S.
    Orphanet J Rare Dis; 2020 Jan 14; 15(1):14. PubMed ID: 31937337
    [Abstract] [Full Text] [Related]

  • 19. Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.
    Nakamura A, Yoshida K, Ikeda S.
    Clin Neurol Neurosurg; 2004 Mar 14; 106(2):122-8. PubMed ID: 15003303
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  • 20. Making sense of the limb-girdle muscular dystrophies.
    Bushby KM.
    Brain; 1999 Aug 14; 122 ( Pt 8)():1403-20. PubMed ID: 10430828
    [Abstract] [Full Text] [Related]

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