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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

520 related items for PubMed ID: 25904990

  • 21.
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  • 22. Facioscapulohumeral muscular dystrophy.
    Tawil R.
    Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
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  • 24. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
    Nat Genet; 2012 Dec; 44(12):1370-4. PubMed ID: 23143600
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  • 25. 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; 24(3):527-35. PubMed ID: 26527377
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  • 26. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
    Guruju NM, Jump V, Lemmers R, Van Der Maarel S, Liu R, Nallamilli BR, Shenoy S, Chaubey A, Koppikar P, Rose R, Khadilkar S, Hegde M.
    Neurol Genet; 2023 Dec; 9(6):e200107. PubMed ID: 38021397
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  • 30. 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
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  • 31. Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
    Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E.
    Front Neurol; 2018 Jul 05; 9():1027. PubMed ID: 30546343
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  • 34. PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level.
    Banerji CRS, Zammit PS.
    Hum Mol Genet; 2019 Jul 01; 28(13):2224-2236. PubMed ID: 31067297
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  • 36. The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
    Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.
    Am J Hum Genet; 2013 Oct 03; 93(4):744-51. PubMed ID: 24075187
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