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Year Number of Results
1996 2
1997 1
1998 1
1999 2
2000 3
2001 1
2002 1
2003 4
2004 5
2005 3
2006 3
2007 3
2008 2
2009 2
2010 5
2011 3
2012 5
2013 4
2014 4
2015 7
2016 6
2017 5
2018 9
2019 7
2020 2
2021 2
2022 3
2023 5
2024 2

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90 results

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Page 1
DUX4 expression in cancer induces a metastable early embryonic totipotent program.
Smith AA, Nip Y, Bennett SR, Hamm DC, Lemmers RJLF, van der Vliet PJ, Setty M, van der Maarel SM, Tapscott SJ. Smith AA, et al. Among authors: lemmers rjlf. Cell Rep. 2023 Sep 26;42(9):113114. doi: 10.1016/j.celrep.2023.113114. Epub 2023 Sep 8. Cell Rep. 2023. PMID: 37691147 Free PMC article.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: lemmers rjlf. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Bruels CC, et al. Among authors: lemmers rjlf. Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23. Ann Clin Transl Neurol. 2022. PMID: 35734998 Free PMC article.
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.
Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants. Montagnese F, et al. Among authors: lemmers rjlf. Neuromuscul Disord. 2023 May;33(5):447-462. doi: 10.1016/j.nmd.2023.04.005. Epub 2023 Apr 8. Neuromuscul Disord. 2023. PMID: 37099914 No abstract available.
FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Among authors: lemmers rjlf. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
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.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM. Lemmers RJLF, et al. J Med Genet. 2022 Feb;59(2):180-188. doi: 10.1136/jmedgenet-2020-107041. Epub 2021 Jan 12. J Med Genet. 2022. PMID: 33436523 Free PMC article.
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.
Mul K, Voermans NC, Lemmers RJLF, Jonker MA, van der Vliet PJ, Padberg GW, van Engelen BGM, van der Maarel SM, Horlings CGC. Mul K, et al. Among authors: lemmers rjlf. Clin Genet. 2018 Dec;94(6):521-527. doi: 10.1111/cge.13446. Epub 2018 Oct 8. Clin Genet. 2018. PMID: 30211448
90 results