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Items: 1 to 20 of 122

1.

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.

Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom TM, Meitinger T, Zimprich F.

J Med Genet. 2020 Feb 21. pii: jmedgenet-2019-106658. doi: 10.1136/jmedgenet-2019-106658. [Epub ahead of print]

PMID:
32086284
2.

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C.

J Clin Neurosci. 2020 Feb;72:31-38. doi: 10.1016/j.jocn.2020.01.041. Epub 2020 Jan 17.

PMID:
31959558
3.

Frequency and clinical features of treatment-refractory myasthenia gravis.

Rath J, Brunner I, Tomschik M, Zulehner G, Hilger E, Krenn M, Paul A, Cetin H, Zimprich F.

J Neurol. 2019 Dec 11. doi: 10.1007/s00415-019-09667-5. [Epub ahead of print]

PMID:
31828474
4.

Multicentric malignant glioma with striking morphologic heterogeneity and early and extensive metastatic spread to the bone.

Peter N, Roetzer T, Furtner J, Kiesel B, Herac M, Susani M, Capper D, Zimprich F, Hainfellner JA, Marosi C, Woehrer A.

Clin Neuropathol. 2019 Nov/Dec;38(6):261-268. doi: 10.5414/NP301242.

PMID:
31661065
5.

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.

Ann Clin Transl Neurol. 2019 Nov;6(11):2317-2322. doi: 10.1002/acn3.50895. Epub 2019 Sep 30.

6.

A polygenic resilience score moderates the genetic risk for schizophrenia.

Hess JL, Tylee DS, Mattheisen M; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Børglum AD, Als TD, Grove J, Werge T, Mortensen PB, Mors O, Nordentoft M, Hougaard DM, Byberg-Grauholm J, Bækvad-Hansen M, Greenwood TA, Tsuang MT, Curtis D, Steinberg S, Sigurdsson E, Stefánsson H, Stefánsson K, Edenberg HJ, Holmans P, Faraone SV, Glatt SJ.

Mol Psychiatry. 2019 Sep 6. doi: 10.1038/s41380-019-0463-8. [Epub ahead of print]

PMID:
31492941
7.

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F.

Eur J Neurol. 2020 Jan;27(1):51-61. doi: 10.1111/ene.14033. Epub 2019 Aug 13.

8.

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.

Neurol Genet. 2019 Jun 25;5(4):e346. doi: 10.1212/NXG.0000000000000346. eCollection 2019 Aug. No abstract available.

9.

Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.

Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA.

Nat Genet. 2019 Jun;51(6):1068. doi: 10.1038/s41588-019-0435-6.

10.

Severe Myasthenic Manifestation of Leptospirosis Associated with New Sequence Type of Leptospira interrogans.

Tomschik M, Koneczny I, Schötta AM, Scharer S, Smajlhodzic M, Rosenegger PF, Blüthner M, Höftberger R, Zimprich F, Stanek G, Markowicz M.

Emerg Infect Dis. 2019 May;25(5):968-971. doi: 10.3201/eid2505.181591.

11.

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project.

N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. No abstract available.

PMID:
30995385
12.

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.

Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA.

Nat Genet. 2019 Apr;51(4):659-674. doi: 10.1038/s41588-019-0364-4. Epub 2019 Mar 25. Erratum in: Nat Genet. 2019 Jun;51(6):1068.

PMID:
30911161
13.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R; EpiPGX Consortium, Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, Sills GJ, Wolking S, Lerche H, Sisodiya SM, Sander JW, Cavalleri GL, Koeleman BPC, McCormack M.

Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.

14.

Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.

Harold D, Connolly S, Riley BP, Kendler KS, McCarthy SE, McCombie WR, Richards A, Owen MJ, O'Donovan MC, Walters J; Wellcome Trust Case Control Consortium 2; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Donohoe G, Gill M, Corvin A, Morris DW.

Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):223-231. doi: 10.1002/ajmg.b.32716. Epub 2019 Feb 23.

PMID:
30801977
15.

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.

J Neurol. 2019 Mar;266(3):699-706. doi: 10.1007/s00415-019-09191-6. Epub 2019 Jan 16.

PMID:
30649616
16.

Management of Autoimmune Encephalitis: An Observational Monocentric Study of 38 Patients.

Macher S, Zimprich F, De Simoni D, Höftberger R, Rommer PS.

Front Immunol. 2018 Nov 22;9:2708. doi: 10.3389/fimmu.2018.02708. eCollection 2018.

17.

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A.

Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec.

18.

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

International League Against Epilepsy Consortium on Complex Epilepsies.

Nat Commun. 2018 Dec 10;9(1):5269. doi: 10.1038/s41467-018-07524-z.

19.

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.

J Neurol. 2018 Dec;265(12):2834-2840. doi: 10.1007/s00415-018-9071-9. Epub 2018 Sep 26.

20.

Rare gene deletions in genetic generalized and Rolandic epilepsies.

Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P.

PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018.

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