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Journal Abstract Search


342 related items for PubMed ID: 33436523

  • 21. Facioscapulohumeral muscular dystrophy.
    Tawil R.
    Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
    [Abstract] [Full Text] [Related]

  • 22. PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle.
    Banerji CRS, Panamarova M, Hebaishi H, White RB, Relaix F, Severini S, Zammit PS.
    Nat Commun; 2017 Dec 18; 8(1):2152. PubMed ID: 29255294
    [Abstract] [Full Text] [Related]

  • 23. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.
    Hum Mutat; 2009 Oct 18; 30(10):1449-59. PubMed ID: 19728363
    [Abstract] [Full Text] [Related]

  • 24. Direct interplay between two candidate genes in FSHD muscular dystrophy.
    Ferri G, Huichalaf CH, Caccia R, Gabellini D.
    Hum Mol Genet; 2015 Mar 01; 24(5):1256-66. PubMed ID: 25326393
    [Abstract] [Full Text] [Related]

  • 25. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
    J Transl Med; 2022 Nov 08; 20(1):517. PubMed ID: 36348371
    [Abstract] [Full Text] [Related]

  • 26. A unifying genetic model for facioscapulohumeral muscular dystrophy.
    Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.
    Science; 2010 Sep 24; 329(5999):1650-3. PubMed ID: 20724583
    [Abstract] [Full Text] [Related]

  • 27. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
    Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW.
    Proc Natl Acad Sci U S A; 2007 Nov 13; 104(46):18157-62. PubMed ID: 17984056
    [Abstract] [Full Text] [Related]

  • 28. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
    Hum Mol Genet; 2018 Oct 15; 27(20):3488-3497. PubMed ID: 30281091
    [Abstract] [Full Text] [Related]

  • 29. Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.
    Jones TI, Himeda CL, Perez DP, Jones PL.
    Neuromuscul Disord; 2017 Mar 15; 27(3):221-238. PubMed ID: 28161093
    [Abstract] [Full Text] [Related]

  • 30. CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.
    Himeda CL, Jones TI, Jones PL.
    Mol Ther; 2016 Mar 15; 24(3):527-35. PubMed ID: 26527377
    [Abstract] [Full Text] [Related]

  • 31. Facioscapulohumeral Muscular Dystrophy.
    Statland JM, Tawil R.
    Continuum (Minneap Minn); 2016 Dec 15; 22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. PubMed ID: 27922500
    [Abstract] [Full Text] [Related]

  • 32. Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy.
    Himeda CL, Jones TI, Virbasius CM, Zhu LJ, Green MR, Jones PL.
    Mol Ther; 2018 Jul 05; 26(7):1797-1807. PubMed ID: 29759937
    [Abstract] [Full Text] [Related]

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  • 35. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
    Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.
    Hum Mol Genet; 2013 Oct 15; 22(20):4206-14. PubMed ID: 23777630
    [Abstract] [Full Text] [Related]

  • 36. Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy.
    Cruz JM, Hupper N, Wilson LS, Concannon JB, Wang Y, Oberhauser B, Patora-Komisarska K, Zhang Y, Glass DJ, Trendelenburg AU, Clarke BA.
    J Biol Chem; 2018 Jul 27; 293(30):11837-11849. PubMed ID: 29899111
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