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Page 1
Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.
Mueller SH, Färber A, Prüss H, Melzer N, Golombeck KS, Kümpfel T, Thaler F, Elisak M, Lewerenz J, Kaufmann M, Sühs KW, Ringelstein M, Kellinghaus C, Bien CG, Kraft A, Zettl UK, Ehrlich S, Handreka R, Rostásy K, Then Bergh F, Faiss JH, Lieb W, Franke A, Kuhlenbäumer G, Wandinger KP, Leypoldt F; German Network for Research on Autoimmune Encephalitis (GENERATE). Mueller SH, et al. Ann Neurol. 2018 Apr;83(4):863-869. doi: 10.1002/ana.25216. Ann Neurol. 2018. PMID: 29572931
Natalizumab therapy for highly active pediatric multiple sclerosis.
Kornek B, Aboul-Enein F, Rostasy K, Milos RI, Steiner I, Penzien J, Hellwig K, Pitarokoili K, Storm van's Gravesande K, Karenfort M, Blaschek A, Meyer A, Seidl R, Debelic D, Vass K, Prayer D, Kristoferitsch W, Bayas A. Kornek B, et al. Among authors: blaschek a. JAMA Neurol. 2013 Apr;70(4):469-75. doi: 10.1001/jamaneurol.2013.923. JAMA Neurol. 2013. PMID: 23420110
Protein aggregation in congenital myopathies.
Goebel HH, Blaschek A. Goebel HH, et al. Among authors: blaschek a. Semin Pediatr Neurol. 2011 Dec;18(4):272-6. doi: 10.1016/j.spen.2011.10.009. Semin Pediatr Neurol. 2011. PMID: 22172423 Review.
Antibodies to MOG are transient in childhood acute disseminated encephalomyelitis.
Pröbstel AK, Dornmair K, Bittner R, Sperl P, Jenne D, Magalhaes S, Villalobos A, Breithaupt C, Weissert R, Jacob U, Krumbholz M, Kuempfel T, Blaschek A, Stark W, Gärtner J, Pohl D, Rostasy K, Weber F, Forne I, Khademi M, Olsson T, Brilot F, Tantsis E, Dale RC, Wekerle H, Hohlfeld R, Banwell B, Bar-Or A, Meinl E, Derfuss T. Pröbstel AK, et al. Among authors: blaschek a. Neurology. 2011 Aug 9;77(6):580-8. doi: 10.1212/WNL.0b013e318228c0b1. Epub 2011 Jul 27. Neurology. 2011. PMID: 21795651
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Among authors: blaschek a. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977
107 results