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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

226 related items for PubMed ID: 31676591

  • 21. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.
    Himeda CL, Jones PL.
    Annu Rev Genomics Hum Genet; 2019 Aug 31; 20():265-291. PubMed ID: 31018108
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  • 22. Facioscapulohumeral muscular dystrophy.
    Tawil R.
    Handb Clin Neurol; 2018 Aug 31; 148():541-548. PubMed ID: 29478599
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  • 23. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.
    Haynes P, Bomsztyk K, Miller DG.
    Epigenetics Chromatin; 2018 Aug 20; 11(1):47. PubMed ID: 30122154
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  • 24. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.
    Hamel J, Tawil R.
    Neurotherapeutics; 2018 Oct 20; 15(4):863-871. PubMed ID: 30361930
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  • 27. Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
    Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.
    Hum Mutat; 2015 Jul 20; 36(7):679-83. PubMed ID: 25820463
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  • 29. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.
    Hum Mol Genet; 2015 Feb 01; 24(3):659-69. PubMed ID: 25256356
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  • 32. A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.
    Gatica LV, Rosa AL.
    Neuromuscul Disord; 2016 Dec 01; 26(12):844-852. PubMed ID: 27816329
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  • 33. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
    Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM.
    J Med Genet; 2019 Oct 01; 56(10):693-700. PubMed ID: 31243061
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  • 38. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
    Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND.
    Neurology; 2022 Mar 29; 98(13):e1384-e1396. PubMed ID: 35121673
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  • 40. DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
    Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ.
    Hum Mol Genet; 2015 Sep 01; 24(17):4817-28. PubMed ID: 26041815
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