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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Krenn M, et al. Among authors: zimprich a, zimprich f. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260357 Free PMC article.
Multifocal motor neuropathy in Austria: a nationwide survey of clinical features and response to treatment.
Löscher WN, Oberreiter EM, Erdler M, Quasthoff S, Culea V, Berek K, Embacher N, Grinzinger S, Hess I, Höger FS, Horlings CGC, Huemer M, Jecel J, Kleindienst W, Laich E, Müller P, Oel D, Örtl W, Lenzenweger E, Rath J, Stadler K, Stieglbauer K, Thaler-Wolf C, Wanschitz J, Zimprich F, Cetin H, Topakian R. Löscher WN, et al. Among authors: zimprich f. J Neurol. 2018 Dec;265(12):2834-2840. doi: 10.1007/s00415-018-9071-9. Epub 2018 Sep 26. J Neurol. 2018. PMID: 30259176 Free PMC article.
High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria.
Topakian R, Zimprich F, Iglseder S, Embacher N, Guger M, Stieglbauer K, Langenscheidt D, Rath J, Quasthoff S, Simschitz P, Wanschitz J, Windisch D, Müller P, Oel D, Schustereder G, Einsiedler S, Eggers C, Löscher W. Topakian R, et al. Among authors: zimprich f. J Neurol. 2019 Mar;266(3):699-706. doi: 10.1007/s00415-019-09191-6. Epub 2019 Jan 16. J Neurol. 2019. PMID: 30649616
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T, Wagner M. Krenn M, et al. Among authors: zimprich f. Neurol Genet. 2019 Jun 25;5(4):e346. doi: 10.1212/NXG.0000000000000346. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31403082 Free PMC article. No abstract available.
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal DS, Meitinger T, Pataraia E, Zimprich F, Aull-Watschinger S. Krenn M, et al. Among authors: zimprich f. Ann Clin Transl Neurol. 2019 Nov;6(11):2317-2322. doi: 10.1002/acn3.50895. Epub 2019 Sep 30. Ann Clin Transl Neurol. 2019. PMID: 31568673 Free PMC article.
174 results