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Items: 1 to 50 of 92

1.

Distinct genetic variation and heterogeneity of the Iranian population.

Mehrjoo Z, Fattahi Z, Beheshtian M, Mohseni M, Poustchi H, Ardalani F, Jalalvand K, Arzhangi S, Mohammadi Z, Khoshbakht S, Najafi F, Nikuei P, Haddadi M, Zohrehvand E, Oladnabi M, Mohammadzadeh A, Jafari MH, Akhtarkhavari T, Gooshki ES, Haghdoost A, Najafipour R, Niestroj LM, Helwing B, Gossmann Y, Toliat MR, Malekzadeh R, Nürnberg P, Kahrizi K, Najmabadi H, Nothnagel M.

PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep.

2.

Copy number variants in lipid metabolism genes are associated with gallstones disease in men.

Pérez-Palma E, Bustos BI, Lal D, Buch S, Azocar L, Toliat MR, Lieb W, Franke A, Hinz S, Burmeister G, von Shönfels W, Schafmayer C, Ahnert P, Völzke H, Völker U, Homuth G, Lerch MM, Puschel K, Gutiérrez RA, Hampe J, Nürnberg P, Miquel JF, De Ferrari GV.

Eur J Hum Genet. 2019 Sep 4. doi: 10.1038/s41431-019-0501-7. [Epub ahead of print]

PMID:
31485028
3.

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ.

FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25.

PMID:
31345061
4.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M.

Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31.

PMID:
31298765
5.

Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia.

Khan HN, Perlee D, Schoenmaker L, van der Meer AJ, Franitza M, Toliat MR, Nürnberg P, Zwinderman AH, van der Poll T, Scicluna BP.

J Leukoc Biol. 2019 Nov;106(5):1153-1160. doi: 10.1002/JLB.4A0219-050R. Epub 2019 Jul 7.

PMID:
31280495
6.

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.

Grassmann F, Harsch S, Brandl C, Kiel C, Nürnberg P, Toliat MR, Fleckenstein M, Pfau M, Schmitz-Valckenberg S, Holz FG, Chew EY, Swaroop A, Ratnapriya R, Klein ML, Mulyukov Z, Zamiri P, Weber BHF.

JAMA Ophthalmol. 2019 May 23. doi: 10.1001/jamaophthalmol.2019.1318. [Epub ahead of print]

PMID:
31120506
7.

Author Correction: Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.

Vikhorev PG, Smoktunowicz N, Munster AB, Copeland ON, Kostin S, Montgiraud C, Messer AE, Toliat MR, Li A, Dos Remedios CG, Lal S, Blair CA, Campbell KS, Guglin M, Richter M, Knöll R, Marston SB.

Sci Rep. 2018 Sep 24;8(1):14485. doi: 10.1038/s41598-018-32408-z.

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.

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.

Vikhorev PG, Smoktunowicz N, Munster AB, Copeland O, Kostin S, Montgiraud C, Messer AE, Toliat MR, Li A, Dos Remedios CG, Lal S, Blair CA, Campbell KS, Guglin M, Richter M, Knöll R, Marston SB.

Sci Rep. 2017 Nov 1;7(1):14829. doi: 10.1038/s41598-017-13675-8. Erratum in: Sci Rep. 2018 Sep 24;8(1):14485.

10.

Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission.

Scicluna BP, Wiewel MA, van Vught LA, Hoogendijk AJ, Klarenbeek AM, Franitza M, Toliat MR, Nürnberg P, Horn J, Bonten MJ, Schultz MJ, Cremer OL, van der Poll T.

Am J Respir Crit Care Med. 2018 Apr 15;197(8):1070-1073. doi: 10.1164/rccm.201707-1339LE. No abstract available.

PMID:
28972859
11.

Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients.

van Vught LA, Scicluna BP, Wiewel MA, Hoogendijk AJ, Klein Klouwenberg PMC, Ong DSY, Cremer OL, Horn J, Franitza M, Toliat MR, Nürnberg P, Bonten MMJ, Schultz MJ, van der Poll T; MARS Consortium.

Crit Care Med. 2017 Nov;45(11):1854-1862. doi: 10.1097/CCM.0000000000002649.

PMID:
28806220
12.

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.

13.

Semi-automated cancer genome analysis using high-performance computing.

Crispatzu G, Kulkarni P, Toliat MR, Nürnberg P, Herling M, Herling CD, Frommolt P.

Hum Mutat. 2017 Oct;38(10):1325-1335. doi: 10.1002/humu.23275. Epub 2017 Jul 17.

PMID:
28598576
14.

Genetic heterogeneity in Pakistani microcephaly families revisited.

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P.

Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22.

PMID:
28004384
15.

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.

Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, Werker PM, Tinschert S, Franke A, Gieger C, Strauch K, Nothnagel M, Nürnberg P, Hennies HC; German Dupuytren Study Group.

PLoS One. 2016 Jul 28;11(7):e0158101. doi: 10.1371/journal.pone.0158101. eCollection 2016.

16.

Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients.

van Vught LA, Scicluna BP, Wiewel MA, Hoogendijk AJ, Klein Klouwenberg PM, Franitza M, Toliat MR, Nürnberg P, Cremer OL, Horn J, Schultz MJ, Bonten MM, van der Poll T.

Am J Respir Crit Care Med. 2016 Dec 1;194(11):1366-1374.

PMID:
27267747
17.

Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample.

Mobascher A, Diaz-Lacava A, Wagner M, Gallinat J, Wienker TF, Drichel D, Becker T, Steffens M, Dahmen N, Gründer G, Thürauf N, Kiefer F, Kornhuber J, Toliat MR, Thiele H, Nürnberg P, Steinlein O, Winterer G.

PLoS One. 2016 Apr 7;11(4):e0152984. doi: 10.1371/journal.pone.0152984. eCollection 2016.

18.

Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients.

Claushuis TA, van Vught LA, Scicluna BP, Wiewel MA, Klein Klouwenberg PM, Hoogendijk AJ, Ong DS, Cremer OL, Horn J, Franitza M, Toliat MR, Nürnberg P, Zwinderman AH, Bonten MJ, Schultz MJ, van der Poll T; Molecular Diagnosis and Risk Stratification of Sepsis Consortium.

Blood. 2016 Jun 16;127(24):3062-72. doi: 10.1182/blood-2015-11-680744. Epub 2016 Mar 8.

PMID:
26956172
19.

The Impact of HIV Co-Infection on the Genomic Response to Sepsis.

Huson MA, Scicluna BP, van Vught LA, Wiewel MA, Hoogendijk AJ, Cremer OL, Bonten MJ, Schultz MJ, Franitza M, Toliat MR, Nürnberg P, Grobusch MP, van der Poll T.

PLoS One. 2016 Feb 12;11(2):e0148955. doi: 10.1371/journal.pone.0148955. eCollection 2016.

20.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M.

PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016.

21.

Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNP.

Vogt J, Yang JW, Mobascher A, Cheng J, Li Y, Liu X, Baumgart J, Thalman C, Kirischuk S, Unichenko P, Horta G, Radyushkin K, Stroh A, Richers S, Sahragard N, Distler U, Tenzer S, Qiao L, Lieb K, Tüscher O, Binder H, Ferreiros N, Tegeder I, Morris AJ, Gropa S, Nürnberg P, Toliat MR, Winterer G, Luhmann HJ, Huai J, Nitsch R.

EMBO Mol Med. 2016 Jan 1;8(1):25-38. doi: 10.15252/emmm.201505677.

22.

Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample.

Bey K, Lennertz L, Markett S, Petrovsky N, Gallinat J, Gründer G, Spreckelmeyer KN, Wienker TF, Mobascher A, Dahmen N, Thuerauf N, Kornhuber J, Kiefer F, Toliat MR, Nürnberg P, Winterer G, Wagner M.

Eur Neuropsychopharmacol. 2016 Jan;26(1):150-155. doi: 10.1016/j.euroneuro.2015.11.007. Epub 2015 Nov 14.

PMID:
26612384
23.

ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.

Buyandelger B, Mansfield C, Kostin S, Choi O, Roberts AM, Ware JS, Mazzarotto F, Pesce F, Buchan R, Isaacson RL, Vouffo J, Gunkel S, Knöll G, McSweeney SJ, Wei H, Perrot A, Pfeiffer C, Toliat MR, Ilieva K, Krysztofinska E, López-Olañeta MM, Gómez-Salinero JM, Schmidt A, Ng KE, Teucher N, Chen J, Teichmann M, Eilers M, Haverkamp W, Regitz-Zagrosek V, Hasenfuss G, Braun T, Pennell DJ, Gould I, Barton PJ, Lara-Pezzi E, Schäfer S, Hübner N, Felkin LE, O'Regan DP, Brand T, Milting H, Nürnberg P, Schneider MD, Prasad S, Petretto E, Knöll R.

Circ Cardiovasc Genet. 2015 Oct;8(5):643-52. doi: 10.1161/CIRCGENETICS.113.000690. Epub 2015 Jul 14.

24.

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG.

Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15.

25.

A molecular biomarker to diagnose community-acquired pneumonia on intensive care unit admission.

Scicluna BP, Klein Klouwenberg PM, van Vught LA, Wiewel MA, Ong DS, Zwinderman AH, Franitza M, Toliat MR, Nürnberg P, Hoogendijk AJ, Horn J, Cremer OL, Schultz MJ, Bonten MJ, van der Poll T.

Am J Respir Crit Care Med. 2015 Oct 1;192(7):826-35. doi: 10.1164/rccm.201502-0355OC.

PMID:
26121490
26.

Erratum: Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.

Hossini AM, Megges M, Prigione A, Lichtner B, Toliat MR, Wruck W, Schröter F, Nuernberg P, Kroll H, Makrantonaki E, Zouboulis CC, Adjaye J.

BMC Genomics. 2015 Jun 6;16:433. doi: 10.1186/s12864-015-1537-x. No abstract available.

27.

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

Budde BS, Mizumoto S, Kogawa R, Becker C, Altmüller J, Thiele H, Rüschendorf F, Toliat MR, Kaleschke G, Hämmerle JM, Höhne W, Sugahara K, Nürnberg P, Kennerknecht I.

Hum Genet. 2015 Jul;134(7):691-704. doi: 10.1007/s00439-015-1549-2. Epub 2015 Apr 19.

PMID:
25893793
28.

Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.

Hossini AM, Megges M, Prigione A, Lichtner B, Toliat MR, Wruck W, Schröter F, Nuernberg P, Kroll H, Makrantonaki E, Zouboulis CC, Adjaye J.

BMC Genomics. 2015 Feb 14;16:84. doi: 10.1186/s12864-015-1262-5. Erratum in: BMC Genomics. 2015;16:433. Zoubouliss, Christos C [corrected to Zouboulis, Christos C].

29.

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
30.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.

Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.

31.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.

Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.

PMID:
25362483
32.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.

Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26.

33.

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.

Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.

34.

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.

35.

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
36.

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.

37.

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
38.

Regulation of ClC-2 gating by intracellular ATP.

Stölting G, Teodorescu G, Begemann B, Schubert J, Nabbout R, Toliat MR, Sander T, Nürnberg P, Lerche H, Fahlke C.

Pflugers Arch. 2013 Oct;465(10):1423-37. doi: 10.1007/s00424-013-1286-0. Epub 2013 May 1.

39.

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
40.

Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam.

Helmstaedter C, Mihov Y, Toliat MR, Thiele H, Nuernberg P, Schoch S, Surges R, Elger CE, Kunz WS, Hurlemann R.

Epilepsia. 2013 Jan;54(1):36-44. doi: 10.1111/j.1528-1167.2012.03603.x. Epub 2012 Aug 6.

41.

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.

Lessel D, Gamulin M, Kulis T, Toliat MR, Grgic M, Friedrich K, Zunec R, Balija M, Nürnberg P, Kastelan Z, Högel J, Kubisch C.

Carcinogenesis. 2012 Aug;33(8):1548-52. doi: 10.1093/carcin/bgs218. Epub 2012 Jun 27.

PMID:
22745383
42.

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating.

Quednow BB, Brinkmeyer J, Mobascher A, Nothnagel M, Musso F, Gründer G, Savary N, Petrovsky N, Frommann I, Lennertz L, Spreckelmeyer KN, Wienker TF, Dahmen N, Thuerauf N, Clepce M, Kiefer F, Majic T, Mössner R, Maier W, Gallinat J, Diaz-Lacava A, Toliat MR, Thiele H, Nürnberg P, Wagner M, Winterer G.

Proc Natl Acad Sci U S A. 2012 Apr 17;109(16):6271-6. doi: 10.1073/pnas.1118051109. Epub 2012 Mar 26.

43.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium.

Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25.

PMID:
22282645
44.

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS.

Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007.

45.

Transforming growth factor-β1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis.

Debrah AY, Batsa L, Albers A, Mand S, Toliat MR, Nürnberg P, Adjei O, Hoerauf A, Pfarr K.

Hum Immunol. 2011 Nov;72(11):1143-8. doi: 10.1016/j.humimm.2011.07.305. Epub 2011 Jul 31.

PMID:
21843572
46.

Wnt signaling and Dupuytren's disease.

Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR, Nothnagel M, Franke A, Klopp N, Wichmann HE, Nürnberg P, Giele H, Ophoff RA, Wijmenga C; Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines Cohort Study; BSSH-GODD Consortium.

N Engl J Med. 2011 Jul 28;365(4):307-17. doi: 10.1056/NEJMoa1101029. Epub 2011 Jul 6.

47.

Lack of association between 71 variations located in candidate genes and response to acute haloperidol treatment.

Giegling I, Drago A, Schäfer M, Hartmann AM, Sander T, Toliat MR, Möller HJ, De Ronchi D, Stassen HH, Rujescu D, Serretti A.

Psychopharmacology (Berl). 2011 Apr;214(3):719-28. doi: 10.1007/s00213-010-2080-8. Epub 2010 Nov 16.

PMID:
21079921
48.

Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.

Giegling I, Drago A, Dolžan V, Plesničar BK, Schäfer M, Hartmann AM, Sander T, Toliat MR, Möller HJ, Stassen HH, Rujescu D, Serretti A.

Pharmacogenet Genomics. 2011 Apr;21(4):206-16. doi: 10.1097/FPC.0b013e32833efb18.

PMID:
20859245
49.

The Arg16Gly-β(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure.

Leineweber K, Frey UH, Tenderich G, Toliat MR, Zittermann A, Nürnberg P, Körfer R, Siffert W, Heusch G.

Naunyn Schmiedebergs Arch Pharmacol. 2010 Oct;382(4):357-65. doi: 10.1007/s00210-010-0548-z. Epub 2010 Aug 29.

PMID:
20803192
50.

The val158met polymorphism of human catechol-O-methyltransferase (COMT) affects anterior cingulate cortex activation in response to painful laser stimulation.

Mobascher A, Brinkmeyer J, Thiele H, Toliat MR, Steffens M, Warbrick T, Musso F, Wittsack HJ, Saleh A, Schnitzler A, Winterer G.

Mol Pain. 2010 May 31;6:32. doi: 10.1186/1744-8069-6-32.

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