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Journal Abstract Search

199 related items for PubMed ID: 30928807

  • 1. Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.
    Park YE, Kim DS, Shin JH.
    Clin Neurol Neurosurg; 2019 May; 180():48-51. PubMed ID: 30928807
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 30(9):1211-7. PubMed ID: 25246303
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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; 72(9):833-45. PubMed ID: 23965743
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
    Selcen D, Bromberg MB, Chin SS, Engel AG.
    Neurology; 2011 Nov 29; 77(22):1951-9. PubMed ID: 22094483
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
    D'Avila F, Meregalli M, Lupoli S, Barcella M, Orro A, De Santis F, Sitzia C, Farini A, D'Ursi P, Erratico S, Cristofani R, Milanesi L, Braga D, Cusi D, Poletti A, Barlassina C, Torrente Y.
    J Muscle Res Cell Motil; 2016 Jun 29; 37(3):101-15. PubMed ID: 27443559
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.
    Eymard B, Ferreiro A, Ben Yaou R, Stojkovic T.
    Rev Neurol (Paris); 2013 May 15; 169(8-9):546-63. PubMed ID: 24021317
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 90(2):166-70. PubMed ID: 27409453
    [Abstract] [Full Text] [Related]

  • 14. FHL1-mutated reducing body myopathy.
    Lim KY, Kim HH, Sung JJ, Oh BM, Kim K, Park SH.
    Neuropathology; 2020 Apr 15; 40(2):185-190. PubMed ID: 31803991
    [Abstract] [Full Text] [Related]

  • 15. FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.
    Hu Z, Zhu Y, Liu X, Zhang W, Liu J, Wu S, Xiao J, Yuan Y, Wang Z.
    J Hum Genet; 2019 Sep 15; 64(9):919-926. PubMed ID: 31273321
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 18; 85(3):338-53. PubMed ID: 19716112
    [Abstract] [Full Text] [Related]

  • 18. Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
    Domenighetti AA, Chu PH, Wu T, Sheikh F, Gokhin DS, Guo LT, Cui Z, Peter AK, Christodoulou DC, Parfenov MG, Gorham JM, Li DY, Banerjee I, Lai X, Witzmann FA, Seidman CE, Seidman JG, Gomes AV, Shelton GD, Lieber RL, Chen J.
    Hum Mol Genet; 2014 Jan 01; 23(1):209-25. PubMed ID: 23975679
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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