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

Year Number of Results
2006 2
2007 2
2008 2
2009 4
2010 6
2011 7
2012 6
2013 12
2014 10
2015 14
2016 6
2017 9
2018 6
2019 6
2020 2
2022 2
2024 2

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88 results

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Page 1
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: suls a. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R. Marini C, et al. Among authors: suls a. Epilepsia. 2011 Apr;52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Epilepsia. 2011. PMID: 21463275 Free article. Review.
Increased herpes zoster risk associated with poor HLA-A immediate early 62 protein (IE62) affinity.
Meysman P, De Neuter N, Bartholomeus E, Elias G, Van den Bergh J, Emonds MP, Haasnoot GW, Heynderickx S, Wens J, Michels NR, Lambert J, Lion E, Claas FHJ, Goossens H, Smits E, Van Damme P, Van Tendeloo V, Beutels P, Suls A, Mortier G, Laukens K, Ogunjimi B. Meysman P, et al. Among authors: suls a. Immunogenetics. 2018 Jun;70(6):363-372. doi: 10.1007/s00251-017-1047-x. Epub 2017 Dec 1. Immunogenetics. 2018. PMID: 29196796
Transcriptomic profiling of different responder types in adults after a Priorix® vaccination.
Bartholomeus E, De Neuter N, Suls A, Elias G, van der Heijden S, Keersmaekers N, Jansens H, Van Tendeloo V, Beutels P, Laukens K, Ogunjimi B, Mortier G, Meysman P, Van Damme P. Bartholomeus E, et al. Among authors: suls a. Vaccine. 2020 Apr 3;38(16):3218-3226. doi: 10.1016/j.vaccine.2020.03.004. Epub 2020 Mar 9. Vaccine. 2020. PMID: 32165045
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: suls a. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L. Manganelli F, et al. Among authors: suls a. J Peripher Nerv Syst. 2012 Sep;17(3):351-5. doi: 10.1111/j.1529-8027.2012.00414.x. J Peripher Nerv Syst. 2012. PMID: 22971097
88 results