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Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: syrbe s. medRxiv [Preprint]. 2023 May 11:2023.05.10.23289776. doi: 10.1101/2023.05.10.23289776. medRxiv. 2023. Update in: Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287 PMID: 37215006 Free PMC article. Updated. Preprint.
Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases.
Baumann M, Hennes EM, Schanda K, Karenfort M, Kornek B, Seidl R, Diepold K, Lauffer H, Marquardt I, Strautmanis J, Syrbe S, Vieker S, Höftberger R, Reindl M, Rostásy K. Baumann M, et al. Among authors: syrbe s. Mult Scler. 2016 Dec;22(14):1821-1829. doi: 10.1177/1352458516631038. Epub 2016 Feb 11. Mult Scler. 2016. PMID: 26869530
Germline AGO2 mutations impair RNA interference and human neurological development.
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ. Lessel D, et al. Among authors: syrbe s. Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5. Nat Commun. 2020. PMID: 33199684 Free PMC article.
Opsoclonus-myoclonus syndrome after adenovirus infection.
Syrbe S, Merkenschlager A, Bernhard MK, Grosche J, Liebert UG, Hirsch W, Härtig W. Syrbe S, et al. Springerplus. 2015 Oct 23;4:636. doi: 10.1186/s40064-015-1429-1. eCollection 2015. Springerplus. 2015. PMID: 26543770 Free PMC article.
133 results