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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: weckhuysen s. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
LifeTime and improving European healthcare through cell-based interceptive medicine.
Rajewsky N, Almouzni G, Gorski SA, Aerts S, Amit I, Bertero MG, Bock C, Bredenoord AL, Cavalli G, Chiocca S, Clevers H, De Strooper B, Eggert A, Ellenberg J, Fernández XM, Figlerowicz M, Gasser SM, Hubner N, Kjems J, Knoblich JA, Krabbe G, Lichter P, Linnarsson S, Marine JC, Marioni JC, Marti-Renom MA, Netea MG, Nickel D, Nollmann M, Novak HR, Parkinson H, Piccolo S, Pinheiro I, Pombo A, Popp C, Reik W, Roman-Roman S, Rosenstiel P, Schultze JL, Stegle O, Tanay A, Testa G, Thanos D, Theis FJ, Torres-Padilla ME, Valencia A, Vallot C, van Oudenaarden A, Vidal M, Voet T; LifeTime Community Working Groups. Rajewsky N, et al. Nature. 2020 Nov;587(7834):377-386. doi: 10.1038/s41586-020-2715-9. Epub 2020 Sep 7. Nature. 2020. PMID: 32894860 Free PMC article.
Normalization of 14-3-3 in CJD.
Schrooten M, De Vooght W, Weckhuysen S, Van Paesschen W, Van Damme P. Schrooten M, et al. Among authors: weckhuysen s. Acta Neurol Belg. 2008 Jun;108(2):64-6. Acta Neurol Belg. 2008. PMID: 18795599
Depdc5 knockout rat: A novel model of mTORopathy.
Marsan E, Ishida S, Schramm A, Weckhuysen S, Muraca G, Lecas S, Liang N, Treins C, Pende M, Roussel D, Le Van Quyen M, Mashimo T, Kaneko T, Yamamoto T, Sakuma T, Mahon S, Miles R, Leguern E, Charpier S, Baulac S. Marsan E, et al. Among authors: weckhuysen s. Neurobiol Dis. 2016 May;89:180-9. doi: 10.1016/j.nbd.2016.02.010. Epub 2016 Feb 9. Neurobiol Dis. 2016. PMID: 26873552 Free article.
Ictal perfusion patterns associated with single MRI-visible focal dysplastic lesions: implications for the noninvasive delineation of the epileptogenic zone.
Dupont P, Van Paesschen W, Palmini A, Ambayi R, Van Loon J, Goffin J, Weckhuysen S, Sunaert S, Thomas B, Demaerel P, Sciot R, Becker AJ, Vanbilloen H, Mortelmans L, Van Laere K. Dupont P, et al. Among authors: weckhuysen s. Epilepsia. 2006 Sep;47(9):1550-7. doi: 10.1111/j.1528-1167.2006.00628.x. Epilepsia. 2006. PMID: 16981872 Free article.
Impact of COVID-19 on the lives and psychosocial well-being of persons with epilepsy during the third trimester of the pandemic: Results from an international, online survey.
Millevert C, Van Hees S, Siewe Fodjo JN, Wijtvliet V, Faria de Moura Villela E, Rosso B, Gil-Nagel A, Weckhuysen S, Colebunders R. Millevert C, et al. Among authors: weckhuysen s. Epilepsy Behav. 2021 Mar;116:107800. doi: 10.1016/j.yebeh.2021.107800. Epub 2021 Jan 29. Epilepsy Behav. 2021. PMID: 33571838 Free PMC article.
STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a.
van Breevoort D, Snijders AP, Hellen N, Weckhuysen S, van Hooren KW, Eikenboom J, Valentijn K, Fernandez-Borja M, Ceulemans B, De Jonghe P, Voorberg J, Hannah M, Carter T, Bierings R. van Breevoort D, et al. Among authors: weckhuysen s. Blood. 2014 May 15;123(20):3185-94. doi: 10.1182/blood-2013-10-535831. Epub 2014 Apr 3. Blood. 2014. PMID: 24700782 Free article.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: weckhuysen s. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
171 results