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Journal Abstract Search

131 related items for PubMed ID: 20186852

  • 1. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
    Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Zacharias U, Schulz-Menger J, Spuler A, Yaou RB, Nürnberg P, Voit T, Bonne G, Spuler S.
    Ann Neurol; 2010 Jan; 67(1):136-40. PubMed ID: 20186852
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

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

  • 5. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
    Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L.
    Hum Mol Genet; 2012 Jul 15; 21(14):3237-54. PubMed ID: 22523091
    [Abstract] [Full Text] [Related]

  • 6. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
    Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S.
    Circ Cardiovasc Genet; 2013 Dec 15; 6(6):543-51. PubMed ID: 24114807
    [Abstract] [Full Text] [Related]

  • 7. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
    Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.
    Ann Neurol; 2000 Aug 15; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 18(12):959-61. PubMed ID: 18952429
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 30(2):165-172. PubMed ID: 32001145
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Reducing body myopathy and other FHL1-related muscular disorders.
    Schessl J, Feldkirchner S, Kubny C, Schoser B.
    Semin Pediatr Neurol; 2011 Dec 15; 18(4):257-63. PubMed ID: 22172421
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Adverse clinical course and poor prognosis of hypertrophic cardiomyopathy due to mutations in FHL1.
    Gallego-Delgado M, Gonzalez-Lopez E, Garcia-Guereta L, Ortega-Molina M, Gonzalez-Vioque E, Cobo-Marcos M, Alonso-Pulpon L, Garcia-Pavia P.
    Int J Cardiol; 2015 Jul 15; 191():194-7. PubMed ID: 25965631
    [No Abstract] [Full Text] [Related]

  • 14. 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 15; 180():48-51. PubMed ID: 30928807
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 85(3):338-53. PubMed ID: 19716112
    [Abstract] [Full Text] [Related]

  • 16. [Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
    Hanisch F, Neudecker S, Wehnert M, Zierz S.
    Nervenarzt; 2002 Oct 15; 73(10):1004-11. PubMed ID: 12376891
    [Abstract] [Full Text] [Related]

  • 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 15; 47(1):127-34. PubMed ID: 23169582
    [Abstract] [Full Text] [Related]

  • 18. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
    San Román I, Navarro M, Martínez F, Albert L, Polo L, Guardiola J, García-Molina E, Muñoz-Esparza C, López-Ayala JM, Sabater-Molina M, Gimeno JR.
    Clin Genet; 2016 Aug 15; 90(2):171-6. PubMed ID: 26857240
    [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. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.
    Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S.
    J Clin Invest; 1993 Dec 15; 92(6):2807-13. PubMed ID: 8254035
    [Abstract] [Full Text] [Related]

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