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The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. Among authors: wagner m. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
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: wagner m. 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.
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Krenn M, Knaus A, Westphal DS, Wortmann SB, Polster T, Woermann FG, Karenfort M, Mayatepek E, Meitinger T, Wagner M, Distelmaier F. Krenn M, et al. Among authors: wagner m. Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May. Ann Clin Transl Neurol. 2019. PMID: 31139695 Free PMC article.
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: wagner m. 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.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Among authors: wagner m. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
6,356 results