PMC Links for Protein (Select 558472805) - PMC

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Items: 4

Select item 42912461.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

Richard J.L.F. Lemmers, Jelle J. Goeman, Patrick J. van der Vliet, Merlijn P. van Nieuwenhuizen, Judit Balog, Marianne Vos-Versteeg, Pilar Camano, Maria Antonia Ramos Arroyo, Ivonne Jerico, Mark T. Rogers, Daniel G. Miller, Meena Upadhyaya, Jan J.G.M. Verschuuren, Adolfo Lopez de Munain Arregui, Baziel G.M. van Engelen, George W. Padberg, Sabrina Sacconi, Rabi Tawil, Stephen J. Tapscott, Bert Bakker, Silvère M. van der Maarel

Hum Mol Genet. 2015 Feb 1; 24(3): 659–669. Published online 2014 Sep 25. doi: 10.1093/hmg/ddu486

PMCID:: PMC4291246

Abstract Article PDF–575K

Select item 31138512.

Expression Profiling of FSHD-1 and FSHD-2 Cells during Myogenic Differentiation Evidences Common and Distinctive Gene Dysregulation Patterns

Stefania Cheli, Stephanie François, Beatrice Bodega, Francesco Ferrari, Elena Tenedini, Enrica Roncaglia, Sergio Ferrari, Enrico Ginelli, Raffaella Meneveri

PLoS One. 2011; 6(6): e20966. Published online 2011 Jun 13. doi: 10.1371/journal.pone.0020966

PMCID:: PMC3113851

Abstract Article PDF–618K

Select item 29744643.

Clinical features of facioscapulohumeral muscular dystrophy 2 (CME)

J.C. de Greef, R.J.L.F. Lemmers, P. Camaño, J.W. Day, S. Sacconi, M. Dunand, B.G.M. van Engelen, S. Kiuru-Enari, G.W. Padberg, A.L. Rosa, C. Desnuelle, S. Spuler, M. Tarnopolsky, S.L. Venance, R.R. Frants, S.M. van der Maarel, R. Tawil

Neurology. 2010 Oct 26; 75(17): 1548–1554. doi: 10.1212/WNL.0b013e3181f96175

PMCID:: PMC2974464

Abstract Article PDF–818K

Select item 17356174.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

T Rijkers, G Deidda, S van Koningsbrugge..., M van Geel, R Lemmers, J C T van Deutekom, D Figlewicz, J Hewitt, G Padberg, R Frants, S M van der Maarel

J Med Genet. 2004 Nov; 41(11): 826–836. doi: 10.1136/jmg.2004.019364