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Journal Abstract Search

175 related items for PubMed ID: 32001145

  • 1. 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
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  • 2. 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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  • 3. 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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  • 4. 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
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  • 5. 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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  • 6. 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 18; 30(9):1211-7. PubMed ID: 25246303
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  • 8. 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 18; 180():48-51. PubMed ID: 30928807
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  • 13. 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 18; 132(Pt 2):452-64. PubMed ID: 19181672
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  • 15. 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
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  • 17. 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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  • 20. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
    Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C.
    Circ Cardiovasc Genet; 2012 Oct 01; 5(5):490-502. PubMed ID: 22923418
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