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Journal Abstract Search

203 related items for PubMed ID: 21310615

  • 1. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
    Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ.
    Neuromuscul Disord; 2011 Apr; 21(4):237-51. PubMed ID: 21310615
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  • 3. Consequences of mutations within the C terminus of the FHL1 gene.
    Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.
    Neurology; 2009 Aug 18; 73(7):543-51. PubMed ID: 19687455
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  • 4. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.
    Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel HH, Bönnemann CG.
    Neuropediatrics; 2010 Feb 18; 41(1):43-6. PubMed ID: 20571991
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  • 5. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
    Wilding BR, McGrath MJ, Bonne G, Mitchell CA.
    J Cell Sci; 2014 May 15; 127(Pt 10):2269-81. PubMed ID: 24634512
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  • 6. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
    Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Neuromuscul Disord; 2008 Dec 15; 18(12):959-61. PubMed ID: 18952429
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  • 7. Novel FHL1 mutation in a family with reducing body myopathy.
    Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG.
    Muscle Nerve; 2013 Jan 15; 47(1):127-34. PubMed ID: 23169582
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  • 8. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
    Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB.
    J Neuropathol Exp Neurol; 2013 Sep 15; 72(9):833-45. PubMed ID: 23965743
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
    Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V.
    Eur J Hum Genet; 2011 Oct 15; 19(10):1038-44. PubMed ID: 21629301
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  • 10. X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
    D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C.
    J Child Neurol; 2015 Aug 15; 30(9):1211-7. PubMed ID: 25246303
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  • 11. Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.
    Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK, Nishino I, Hirata K.
    J Neurol Sci; 2012 Jul 15; 318(1-2):163-7. PubMed ID: 22541254
    [Abstract] [Full Text] [Related]

  • 12. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
    Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G.
    Am J Hum Genet; 2009 Sep 15; 85(3):338-53. PubMed ID: 19716112
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  • 13. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
    Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.
    Am J Hum Genet; 2008 Jan 15; 82(1):88-99. PubMed ID: 18179888
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  • 14. Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
    Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M.
    Hum Mol Genet; 2015 Feb 01; 24(3):714-26. PubMed ID: 25274776
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
    Chen DH, Raskind WH, Parson WW, Sonnen JA, Vu T, Zheng Y, Matsushita M, Wolff J, Lipe H, Bird TD.
    J Neurol Sci; 2010 Sep 15; 296(1-2):22-9. PubMed ID: 20633900
    [Abstract] [Full Text] [Related]

  • 16. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
    Giucă A, Mitu C, Popescu BO, Bastian AE, Capşa R, Mursă A, Rădoi V, Popescu BA, Jurcuţ R.
    BMC Med Genet; 2020 Sep 29; 21(1):188. PubMed ID: 32993534
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  • 17. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
    Willis TA, Wood CL, Hudson J, Polvikoski T, Barresi R, Lochmüller H, Bushby K, Straub V.
    Clin Genet; 2016 Aug 29; 90(2):166-70. PubMed ID: 27409453
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  • 18. FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
    Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D.
    Neuromuscul Disord; 2020 Feb 29; 30(2):165-172. PubMed ID: 32001145
    [Abstract] [Full Text] [Related]

  • 19. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
    Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG.
    Brain; 2009 Feb 29; 132(Pt 2):452-64. PubMed ID: 19181672
    [Abstract] [Full Text] [Related]

  • 20. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
    Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.
    Am J Hum Genet; 2008 Jan 29; 82(1):208-13. PubMed ID: 18179901
    [Abstract] [Full Text] [Related]

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