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Items: 1 to 50 of 91

1.

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. 2019 Jul 10. doi: 10.1111/ene.14033. [Epub ahead of print]

PMID:
31407473
2.

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.

3.

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.

4.

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
5.

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.

6.

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.

7.

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.

8.

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.

9.

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 Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

10.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono RJ, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosário M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R.

Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

11.

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA; EUROEPINOMICS COGIE Consortium.

Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.

12.

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.

J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.

13.

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D.

J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29.

14.

Iodinated contrast agents in patients with myasthenia gravis: a retrospective cohort study.

Rath J, Mauritz M, Zulehner G, Hilger E, Cetin H, Kasprian G, Auff E, Zimprich F.

J Neurol. 2017 Jun;264(6):1209-1217. doi: 10.1007/s00415-017-8518-8. Epub 2017 May 26.

15.

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack TB, Strom TM, Zimprich A, Zimprich F.

Eur J Neurol. 2017 May;24(5):741-747. doi: 10.1111/ene.13279. Epub 2017 Mar 22.

PMID:
28332297
16.

Lateralization of language function in epilepsy patients: A high-density scalp-derived event-related potentials (ERP) study.

Trimmel K, Sachsenweger J, Lindinger G, Auff E, Zimprich F, Pataraia E.

Clin Neurophysiol. 2017 Mar;128(3):472-479. doi: 10.1016/j.clinph.2016.12.025. Epub 2017 Jan 12.

PMID:
28160753
17.

Psychoses in epilepsy: A comparison of postictal and interictal psychoses.

Hilger E, Zimprich F, Pataraia E, Aull-Watschinger S, Jung R, Baumgartner C, Bonelli S.

Epilepsy Behav. 2016 Jul;60:58-62. doi: 10.1016/j.yebeh.2016.04.005. Epub 2016 May 11.

PMID:
27179193
18.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA.

PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016.

19.

Clinical features, pathogenesis, and treatment of myasthenia gravis: a supplement to the Guidelines of the German Neurological Society.

Melzer N, Ruck T, Fuhr P, Gold R, Hohlfeld R, Marx A, Melms A, Tackenberg B, Schalke B, Schneider-Gold C, Zimprich F, Meuth SG, Wiendl H.

J Neurol. 2016 Aug;263(8):1473-94. doi: 10.1007/s00415-016-8045-z. Epub 2016 Feb 17. Review.

20.

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A.

Clin Genet. 2016 Oct;90(4):366-71. doi: 10.1111/cge.12724. Epub 2016 Feb 3.

PMID:
26748608
21.

Relationship Between Age, Gender, and Race in Patients Presenting With Myasthenia Gravis With Only Ocular Manifestations.

Peragallo JH, Bitrian E, Kupersmith MJ, Zimprich F, Whittaker TJ, Lee MS, Bruce BB.

J Neuroophthalmol. 2016 Mar;36(1):29-32. doi: 10.1097/WNO.0000000000000276.

PMID:
26035808
22.

Associations between co-medications and survival in ALS-a cohort study from Austria.

Cetin H, Klickovic U, Rath J, Zulehner G, Füzi J, Reichardt B, Hagmann M, Wanschitz J, Löscher WN, Auff E, Zimprich F.

J Neurol. 2015 Jul;262(7):1698-705. doi: 10.1007/s00415-015-7767-7. Epub 2015 May 10.

PMID:
25957641
23.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium, Sander T.

PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May.

24.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841
25.

Epidemiology of amyotrophic lateral sclerosis and effect of riluzole on disease course.

Cetin H, Rath J, Füzi J, Reichardt B, Fülöp G, Koppi S, Erdler M, Ransmayr G, Weber J, Neumann K, Hagmann M, Löscher WN, Auff E, Zimprich F.

Neuroepidemiology. 2015;44(1):6-15. doi: 10.1159/000369813. Epub 2015 Jan 7.

PMID:
25571962
26.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F.

Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3.

27.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
28.

DEPDC5 mutations in genetic focal epilepsies of childhood.

Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA.

Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127. Epub 2014 Apr 14.

PMID:
24591017
29.

A genetic polymorphism of the endogenous opioid dynorphin modulates monetary reward anticipation in the corticostriatal loop.

Votinov M, Pripfl J, Windischberger C, Kalcher K, Zimprich A, Zimprich F, Moser E, Lamm C, Sailer U.

PLoS One. 2014 Feb 25;9(2):e89954. doi: 10.1371/journal.pone.0089954. eCollection 2014.

30.

RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA.

PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.

31.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM.

Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6.

32.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S.

Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.

PMID:
23933819
33.

Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

Stogmann E, Zimprich A, Zimprich F.

Brain. 2013 Oct;136(Pt 10):e254. doi: 10.1093/brain/awt141. Epub 2013 Jun 25. No abstract available.

PMID:
23803302
34.

Postictal psychosis in temporal lobe epilepsy: a case-control study.

Hilger E, Zimprich F, Jung R, Pataraia E, Baumgartner C, Bonelli S.

Eur J Neurol. 2013 Jun;20(6):955-61. doi: 10.1111/ene.12125. Epub 2013 Mar 16.

PMID:
23663538
35.

Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients.

Greisenegger EK, Zimprich F, Zimprich A, Gleiss A, Kopp T.

Eur J Dermatol. 2013 Apr 1;23(2):142-5. doi: 10.1684/ejd.2013.1955.

PMID:
23557745
36.

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A.

Brain. 2013 Apr;136(Pt 4):1155-60. doi: 10.1093/brain/awt068. Epub 2013 Mar 21.

PMID:
23518707
37.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.

Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium.

Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25.

38.

The effect of early prednisolone treatment on the generalization rate in ocular myasthenia gravis.

Zach H, Cetin H, Hilger E, Paul A, Wuschitz B, Jung R, Auff E, Zimprich F.

Eur J Neurol. 2013 Apr;20(4):708-13. doi: 10.1111/ene.12057. Epub 2012 Dec 25.

PMID:
23279780
39.

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.

Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis SE, Estivill X, Glavač D, Gut I, Klovins J, Krawczak M, Kučinskas V, Lathrop M, Macek M, Marsal S, Meitinger T, Melegh B, Limborska S, Lubinski J, Paolotie A, Schreiber S, Toncheva D, Toniolo D, Wichmann HE, Zimprich A, Metspalu M, Gasparini P, Metspalu A, D'Adamo P.

Eur J Hum Genet. 2013 Jun;21(6):659-65. doi: 10.1038/ejhg.2012.229. Epub 2012 Dec 19.

40.

Epidemiology of myasthenia gravis in Austria: rising prevalence in an ageing society.

Cetin H, Fülöp G, Zach H, Auff E, Zimprich F.

Wien Klin Wochenschr. 2012 Nov;124(21-22):763-8. doi: 10.1007/s00508-012-0258-2. Epub 2012 Nov 6.

PMID:
23129486
41.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.

Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.

PMID:
22949513
42.

The receptor for advanced glycation endproducts and its ligands in patients with myasthenia gravis.

Moser B, Bekos C, Zimprich F, Nickl S, Klepetko W, Ankersmit J.

Biochem Biophys Res Commun. 2012 Mar 30;420(1):96-101. doi: 10.1016/j.bbrc.2012.02.121. Epub 2012 Mar 3.

PMID:
22405771
43.

Lack of association between ABCC2 gene variants and treatment response in epilepsy.

Hilger E, Reinthaler EM, Stogmann E, Hotzy C, Pataraia E, Baumgartner C, Zimprich A, Zimprich F.

Pharmacogenomics. 2012 Jan;13(2):185-90. doi: 10.2217/pgs.11.143.

PMID:
22256867
44.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.

BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.

45.

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM.

Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008.

46.

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.

Jamali S, Salzmann A, Perroud N, Ponsole-Lenfant M, Cillario J, Roll P, Roeckel-Trevisiol N, Crespel A, Balzar J, Schlachter K, Gruber-Sedlmayr U, Pataraia E, Baumgartner C, Zimprich A, Zimprich F, Malafosse A, Szepetowski P.

PLoS One. 2010 Sep 16;5(9). pii: e12740. doi: 10.1371/journal.pone.0012740.

47.

Role of LINGO1 polymorphisms in Parkinson's disease.

Haubenberger D, Hotzy C, Pirker W, Katzenschlager R, Brücke T, Zimprich F, Auff E, Zimprich A.

Mov Disord. 2009 Dec 15;24(16):2404-7. doi: 10.1002/mds.22768.

48.

Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.

Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A.

J Eur Acad Dermatol Venereol. 2010 May;24(5):607-10. doi: 10.1111/j.1468-3083.2009.03469.x. Epub 2009 Oct 23.

PMID:
19874431
49.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.

Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20.

50.

Analysis of the prodynorphin promoter polymorphism in atopic dermatitis and disease-related pruritus.

Greisenegger EK, Zimprich A, Zimprich F, Stingl G, Kopp T.

Clin Exp Dermatol. 2009 Aug;34(6):728-30. doi: 10.1111/j.1365-2230.2009.03225.x. Epub 2009 May 26.

PMID:
19486061

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