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Items: 1 to 20 of 90

1.

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 Mar 22. doi: 10.1111/ene.13279. [Epub ahead of print]

PMID:
28332297
2.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium.; Schizophrenia Working Group of the Psychiatric Genomics Consortium..

Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774.

PMID:
28322246
3.

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.

PMID:
28160753
4.

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.

PMID:
27179193
5.

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.

6.

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. Review.

7.

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.

Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJ, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Yao Y, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium.; Psychosis Endophenotypes International Consortium.; Wellcome Trust Case Control Consortium 2.; Enigma Consortium., O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF.

Nat Neurosci. 2016 Mar;19(3):420-31. doi: 10.1038/nn.4228. Epub 2016 Feb 1.

8.

Schizophrenia risk from complex variation of complement component 4.

Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE; Schizophrenia Working Group of the Psychiatric Genomics Consortium., Daly MJ, Carroll MC, Stevens B, McCarroll SA.

Nature. 2016 Feb 11;530(7589):177-83. doi: 10.1038/nature16549. Epub 2016 Jan 27.

9.

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.

PMID:
26748608
10.

Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness.

Bigdeli TB, Ripke S, Bacanu SA, Lee SH, Wray NR, Gejman PV, Rietschel M, Cichon S, St Clair D, Corvin A, Kirov G, McQuillin A, Gurling H, Rujescu D, Andreassen OA, Werge T, Blackwood DH, Pato CN, Pato MT, Malhotra AK, O'Donovan MC, Kendler KS, Fanous AH; Schizophrenia Working Group of the Psychiatric Genomics Consortium..

Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):276-89. doi: 10.1002/ajmg.b.32402. Epub 2015 Dec 11.

PMID:
26663532
11.

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis.

Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ; Schizophrenia Working Group of Psychiatric Genomics Consortium., de Candia TR, Lee SH, Wray NR, Kendler KS, O'Donovan MC, Neale BM, Patterson N, Price AL.

Nat Genet. 2015 Dec;47(12):1385-92. doi: 10.1038/ng.3431.

12.

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.

Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study., Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL.

Am J Hum Genet. 2015 Oct 1;97(4):576-92. doi: 10.1016/j.ajhg.2015.09.001.

13.

Investigation of GRIN2A in common epilepsy phenotypes.

Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium.; EuroEPINOMICS-CoGIE consortium., von Spiczak S, Lemke JR.

Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010.

PMID:
26220384
14.

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
15.

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.

PMID:
25957641
16.

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.

17.

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.

PMID:
25726841
18.

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.

Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J; Schizophrenia Working Group of the Psychiatric Genomics Consortium., Patterson N, Daly MJ, Price AL, Neale BM.

Nat Genet. 2015 Mar;47(3):291-5. doi: 10.1038/ng.3211.

19.

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.

PMID:
25571962
20.

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.

Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium.; SWE-SCZ Consortium., Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium.; SWE-SCZ Consortium..

Am J Hum Genet. 2014 Nov 6;95(5):535-52. doi: 10.1016/j.ajhg.2014.10.004.

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