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Journal Abstract Search

283 related items for PubMed ID: 18179888

  • 1. 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; 82(1):88-99. PubMed ID: 18179888
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  • 2. 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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  • 3. 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
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  • 4. 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
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  • 8. 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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  • 9. 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. 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 15; 82(1):208-13. PubMed ID: 18179901
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  • 13. 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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  • 14. 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 29; 47(1):127-34. PubMed ID: 23169582
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  • 18. 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 29; 18(12):959-61. PubMed ID: 18952429
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  • 19. A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations.
    Keßler M, Kieltsch A, Kayvanpour E, Katus HA, Schoser B, Schessl J, Just S, Rottbauer W.
    Neuromuscul Disord; 2018 Jun 29; 28(6):521-531. PubMed ID: 29735270
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  • 20. 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 29; 72(9):833-45. PubMed ID: 23965743
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