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Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007.
Hum Mol Genet. 2024.
PMID: 38268317
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SRM, Wang LH, Tawil R, Statland JM, Tapscott SJ.
Wong CJ, et al. Among authors: lemmers rjfl.
bioRxiv [Preprint]. 2023 Feb 20:2023.02.20.529303. doi: 10.1101/2023.02.20.529303.
bioRxiv. 2023.
PMID: 36865168
Free PMC article.
Updated.
Preprint.
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Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies.
Wong CJ, Wang LH, Friedman SD, Shaw D, Campbell AE, Budech CB, Lewis LM, Lemmers RJFL, Statland JM, van der Maarel SM, Tawil RN, Tapscott SJ.
Wong CJ, et al. Among authors: lemmers rjfl.
Hum Mol Genet. 2020 Apr 15;29(6):1030-1043. doi: 10.1093/hmg/ddaa031.
Hum Mol Genet. 2020.
PMID: 32083293
Free PMC article.
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MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN.
Wang LH, et al. Among authors: lemmers rjfl.
Hum Mol Genet. 2019 Feb 1;28(3):476-486. doi: 10.1093/hmg/ddy364.
Hum Mol Genet. 2019.
PMID: 30312408
Free PMC article.
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Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.
van den Boogaard ML, et al.
Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.
Eur J Hum Genet. 2016.
PMID: 25782668
Free PMC article.
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Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.
Ehrlich M, et al.
Chromosoma. 2007 Apr;116(2):107-16. doi: 10.1007/s00412-006-0080-6. Epub 2006 Nov 28.
Chromosoma. 2007.
PMID: 17131163
Free PMC article.
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Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.
Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM.
Lemmers RJ, et al.
Am J Hum Genet. 2004 Dec;75(6):1124-30. doi: 10.1086/426035. Epub 2004 Oct 4.
Am J Hum Genet. 2004.
PMID: 15467981
Free PMC article.
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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM.
van Overveld PG, et al.
Nat Genet. 2003 Dec;35(4):315-7. doi: 10.1038/ng1262. Epub 2003 Nov 23.
Nat Genet. 2003.
PMID: 14634647
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