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Table representation of search results timeline featuring number of search results per year.

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 2
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82 results
Results by year
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Page 1
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J. Beijer D, et al. Among authors: lemmers rj. JCI Insight. 2021 Jul 22;6(14):e148363. doi: 10.1172/jci.insight.148363. JCI Insight. 2021. PMID: 34291734 Free PMC article.
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.
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
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM. Balog J, et al. Among authors: lemmers rjlf. J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21. J Med Genet. 2018. PMID: 29563141 Free PMC article.
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE. Goselink RJM, et al. Among authors: lemmers rjlf. Ann Neurol. 2018 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16. Ann Neurol. 2018. PMID: 30179273 Free PMC article.
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Hamanaka K, et al. Among authors: lemmers rjlf. Neurology. 2020 Jun 9;94(23):e2441-e2447. doi: 10.1212/WNL.0000000000009617. Epub 2020 May 28. Neurology. 2020. PMID: 32467133 Free PMC article.
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.
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, Deidda G. Calandra P, et al. Among authors: lemmers rj. J Med Genet. 2016 May;53(5):348-55. doi: 10.1136/jmedgenet-2015-103436. Epub 2016 Feb 1. J Med Genet. 2016. PMID: 26831754
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.
Wohlgemuth M, Lemmers RJ, Jonker M, van der Kooi E, Horlings CG, van Engelen BG, van der Maarel SM, Padberg GW, Voermans NC. Wohlgemuth M, et al. Among authors: lemmers rj. Neurology. 2018 Jul 31;91(5):e444-e454. doi: 10.1212/WNL.0000000000005915. Epub 2018 Jul 11. Neurology. 2018. PMID: 29997197 Free PMC article.
82 results