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Journal Abstract Search

336 related items for PubMed ID: 22172421

  • 1. 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
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  • 2. 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. 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; 47(1):127-34. PubMed ID: 23169582
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  • 6. 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; 41(1):43-6. PubMed ID: 20571991
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  • 7. 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. 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
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  • 13. 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 01; 30(2):165-172. PubMed ID: 32001145
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  • 16. [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
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  • 17. Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.
    Feldkirchner S, Walter MC, Müller S, Kubny C, Krause S, Kress W, Hanisch FG, Schoser B, Schessl J.
    Neuromuscul Disord; 2013 May 02; 23(5):418-26. PubMed ID: 23489660
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  • 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 02; 132(Pt 2):452-64. PubMed ID: 19181672
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  • 20. 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 02; 90(2):166-70. PubMed ID: 27409453
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