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    Results: 1 to 20 of 158

    1.

    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy.

    Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

    Am J Hum Genet. 2013 Jun 4. doi:pii: S0002-9297(13)00217-6. 10.1016/j.ajhg.2013.05.004. [Epub ahead of print]

    PMID:
    23746549
    [PubMed - as supplied by publisher]
    2.

    Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.

    Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.

    Brain. 2013 Jun;136(Pt 6):1718-31. doi: 10.1093/brain/awt113. Epub 2013 May 28.

    PMID:
    23715096
    [PubMed - in process]
    3.

    Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

    de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H.

    J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9.

    PMID:
    23572184
    [PubMed - in process]
    4.

    Selenoprotein N deficiency in mice is associated with abnormal lung development.

    Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH.

    FASEB J. 2013 Apr;27(4):1585-99. doi: 10.1096/fj.12-212688. Epub 2013 Jan 16.

    PMID:
    23325319
    [PubMed - indexed for MEDLINE]
    5.

    Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

    Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH.

    Hum Mol Genet. 2013 Apr 15;22(8):1525-38. doi: 10.1093/hmg/ddt003. Epub 2013 Jan 9.

    PMID:
    23307925
    [PubMed - in process]
    6.

    Large duplication in MTM1 associated with myotubular myopathy.

    Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ.

    Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

    PMID:
    23273872
    [PubMed - in process]
    7.

    Muscle function in a canine model of X-linked myotubular myopathy.

    Grange RW, Doering J, Mitchell E, Holder MN, Guan X, Goddard M, Tegeler C, Beggs AH, Childers MK.

    Muscle Nerve. 2012 Oct;46(4):588-91. doi: 10.1002/mus.23463.

    PMID:
    22987702
    [PubMed - indexed for MEDLINE]
    8.

    Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

    Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.

    Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.

    PMID:
    22958903
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

    Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

    PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

    PMID:
    22952766
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

    Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E.

    Am J Pathol. 2012 Sep;181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27.

    PMID:
    22841819
    [PubMed - indexed for MEDLINE]
    11.

    Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

    Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ.

    Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.

    PMID:
    22818856
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

    Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT.

    J Clin Invest. 2012 Jul 2;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18.

    PMID:
    22706301
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

    Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR.

    Dis Model Mech. 2012 Nov;5(6):852-9. doi: 10.1242/dmm.009746. Epub 2012 May 24.

    PMID:
    22645112
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Clinical utility gene card for: Centronuclear and myotubular myopathies.

    Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J.

    Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.91. Epub 2012 May 23. No abstract available.

    PMID:
    22617344
    [PubMed - in process]
    15.

    Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

    Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N.

    Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4.

    PMID:
    22560515
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

    Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

    Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16.

    PMID:
    22431104
    [PubMed - indexed for MEDLINE]
    17.

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

    Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

    Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

    PMID:
    22396310
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

    Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB.

    Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28.

    PMID:
    22371254
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.

    Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH.

    Hum Mol Genet. 2012 May 15;21(10):2341-56. doi: 10.1093/hmg/dds053. Epub 2012 Feb 17.

    PMID:
    22343409
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.

    Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH.

    FASEB J. 2012 May;26(5):1892-908. doi: 10.1096/fj.11-194548. Epub 2012 Jan 17.

    PMID:
    22253474
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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