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2006 2
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89 results

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Page 1
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.
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
De novo variants in neurodevelopmental disorders with epilepsy.
Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium; Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR. Heyne HO, et al. Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25. Nat Genet. 2018. PMID: 29942082
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
Lack of functional TCR-epitope interaction is associated with herpes zoster through reduced downstream T cell activation.
Boeren M, de Vrij N, Ha MK, Valkiers S, Souquette A, Gielis S, Kuznetsova M, Schippers J, Bartholomeus E, Van den Bergh J, Michels N, Aerts O, Leysen J, Bervoets A, Lambert J, Leuridan E, Wens J, Peeters K, Emonds MP, Elias G, Vandamme N, Jansens H, Adriaensen W, Suls A, Vanhee S, Hens N, Smits E, Van Damme P, Thomas PG, Beutels P, Ponsaerts P, Van Tendeloo V, Delputte P, Laukens K, Meysman P, Ogunjimi B. Boeren M, et al. Among authors: suls a. Cell Rep. 2024 Apr 23;43(4):114062. doi: 10.1016/j.celrep.2024.114062. Epub 2024 Apr 7. Cell Rep. 2024. PMID: 38588339 Free article.
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
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
89 results