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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: zimprich f. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
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: zimprich f. 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.
Impact of muscle biopsy on the clinical decision-making process in patients with suspected idiopathic inflammatory myopathy.
Kastrati K, Nakhost Lotfi N, Tawfik MG, Gelpi E, Hametner S, Höftberger R, Zimprich F, Cetin H, Lindeck-Pozza E, Heil PM, Kiener HP, Heinz LX, Mrak D, Aletaha D, Bonelli M, Radner H. Kastrati K, et al. Among authors: zimprich f. J Autoimmun. 2024 Apr;144:103185. doi: 10.1016/j.jaut.2024.103185. Epub 2024 Mar 1. J Autoimmun. 2024. PMID: 38428109 Free article.
Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker.
Kleinveld VEA, Keritam O, Horlings CGC, Cetin H, Wanschitz J, Hotter A, Zirch LS, Zimprich F, Topakian R, Müller P, Oel D, Quasthoff S, Erdler M, Rauschka H, Grinzinger S, Jecel J, Gaulhofer P, Castek B, Stadler K, Löscher WN. Kleinveld VEA, et al. Among authors: zimprich f. Muscle Nerve. 2024 Apr;69(4):422-427. doi: 10.1002/mus.28054. Epub 2024 Feb 9. Muscle Nerve. 2024. PMID: 38334356
Guideline for the management of myasthenic syndromes.
Wiendl H, Abicht A, Chan A, Della Marina A, Hagenacker T, Hekmat K, Hoffmann S, Hoffmann HS, Jander S, Keller C, Marx A, Melms A, Melzer N, Müller-Felber W, Pawlitzki M, Rückert JC, Schneider-Gold C, Schoser B, Schreiner B, Schroeter M, Schubert B, Sieb JP, Zimprich F, Meisel A. Wiendl H, et al. Among authors: zimprich f. Ther Adv Neurol Disord. 2023 Dec 26;16:17562864231213240. doi: 10.1177/17562864231213240. eCollection 2023. Ther Adv Neurol Disord. 2023. PMID: 38152089 Free PMC article. Review.
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M, Wagner M, Zulehner G, Weng R, Jäger F, Keritam O, Sener M, Brücke C, Milenkovic I, Langer A, Buchinger D, Habersam R, Mayerhanser K, Brugger M, Brunet T, Jacob M, Graf E, Berutti R, Cetin H, Hoefele J, Winkelmann J, Zimprich F, Rath J. Krenn M, et al. Among authors: zimprich f. J Neurol. 2024 Apr;271(4):1937-1946. doi: 10.1007/s00415-023-12101-6. Epub 2023 Dec 21. J Neurol. 2024. PMID: 38127101 Free PMC article.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Thymectomy in myasthenia gravis.
Rath J, Moser B, Zimprich F. Rath J, et al. Among authors: zimprich f. Curr Opin Neurol. 2023 Oct 1;36(5):416-423. doi: 10.1097/WCO.0000000000001189. Epub 2023 Jul 25. Curr Opin Neurol. 2023. PMID: 37639450 Review.
174 results