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Journal Abstract Search

191 related items for PubMed ID: 21629301

  • 1. 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; 19(10):1038-44. PubMed ID: 21629301
    [Abstract] [Full Text] [Related]

  • 2. Reducing body myopathy and other FHL1-related muscular disorders.
    Schessl J, Feldkirchner S, Kubny C, Schoser B.
    Semin Pediatr Neurol; 2011 Dec; 18(4):257-63. PubMed ID: 22172421
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 15; 132(Pt 2):452-64. PubMed ID: 19181672
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
    Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR.
    Circ Cardiovasc Genet; 2016 Apr 18; 9(2):130-5. PubMed ID: 26933038
    [Abstract] [Full Text] [Related]

  • 10. 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 18; 30(2):165-172. PubMed ID: 32001145
    [Abstract] [Full Text] [Related]

  • 11. A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles.
    Santhoshkumar R, Preethish-Kumar V, Mangalaparthi KK, Unni S, Padmanabhan B, T S KP, Nongthomba U, Atchayaram N, Narayanappa G.
    J Mol Neurosci; 2021 Nov 18; 71(11):2324-2335. PubMed ID: 33515430
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. [Childhood reducing body myopathy caused by FHL1 gene variation in a child].
    Wei CJ, Wang ZX, Chang XZ, Lyu JL, Ge L, Fan YB, Zhang YH, Xiong H.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):147-149. PubMed ID: 32102154
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 29; 41(1):43-6. PubMed ID: 20571991
    [Abstract] [Full Text] [Related]

  • 16. 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 29; 30(9):1211-7. PubMed ID: 25246303
    [Abstract] [Full Text] [Related]

  • 17. 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 29; 21(4):237-51. PubMed ID: 21310615
    [Abstract] [Full Text] [Related]

  • 18. 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 29; 85(3):338-53. PubMed ID: 19716112
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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