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27. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Snider L; Asawachaicharn A; Tyler AE; Geng LN; Petek LM; Maves L; Miller DG; Lemmers RJ; Winokur ST; Tawil R; van der Maarel SM; Filippova GN; Tapscott SJ Hum Mol Genet; 2009 Jul; 18(13):2414-30. PubMed ID: 19359275 [TBL] [Abstract][Full Text] [Related]
28. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. Balog J; Thijssen PE; Shadle S; Straasheijm KR; van der Vliet PJ; Krom YD; van den Boogaard ML; de Jong A; F Lemmers RJ; Tawil R; Tapscott SJ; van der Maarel SM Epigenetics; 2015; 10(12):1133-42. PubMed ID: 26575099 [TBL] [Abstract][Full Text] [Related]
29. Facioscapulohumeral muscular dystrophy. Tawil R; Van Der Maarel SM Muscle Nerve; 2006 Jul; 34(1):1-15. PubMed ID: 16508966 [TBL] [Abstract][Full Text] [Related]
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32. Hybridization analysis of D4Z4 repeat arrays linked to FSHD. Ehrlich M; Jackson K; Tsumagari K; Camaño P; Lemmers RJ Chromosoma; 2007 Apr; 116(2):107-16. PubMed ID: 17131163 [TBL] [Abstract][Full Text] [Related]
33. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. Sacconi S; Camaño P; de Greef JC; Lemmers RJ; Salviati L; Boileau P; Lopez de Munain Arregui A; van der Maarel SM; Desnuelle C J Med Genet; 2012 Jan; 49(1):41-6. PubMed ID: 21984748 [TBL] [Abstract][Full Text] [Related]
34. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. Jones TI; King OD; Himeda CL; Homma S; Chen JC; Beermann ML; Yan C; Emerson CP; Miller JB; Wagner KR; Jones PL Clin Epigenetics; 2015; 7(1):37. PubMed ID: 25904990 [TBL] [Abstract][Full Text] [Related]
35. Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy. Hewitt JE Hum Mol Genet; 2015 Oct; 24(R1):R17-23. PubMed ID: 26113644 [TBL] [Abstract][Full Text] [Related]
36. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. Butz M; Koch MC; Müller-Felber W; Lemmers RJ; van der Maarel SM; Schreiber H J Neurol; 2003 Aug; 250(8):932-7. PubMed ID: 12928911 [TBL] [Abstract][Full Text] [Related]
37. 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; 28(13):2224-2236. PubMed ID: 31067297 [TBL] [Abstract][Full Text] [Related]
38. 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; 30(10):1449-59. PubMed ID: 19728363 [TBL] [Abstract][Full Text] [Related]
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