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Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.
Nat Genet. 2024;
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Keaton, JM; Kamali, Z; Xie, T; Vaez, A; Williams, A; Goleva, SB; Ani, A; Evangelou, E; Hellwege, JN; Yengo, L; Young, WJ; Traylor, M; Giri, A; Zheng, Z; Zeng, J; Chasman, DI; Morris, AP; Caulfield, MJ; Hwang, SJ; Kooner, JS; Conen, D; Attia, JR; Morrison, AC; Loos, RJF; Kristiansson, K; Schmidt, R; Hicks, AA; Pramstaller, PP; Nelson, CP; Samani, NJ; Risch, L; Gyllensten, U; Melander, O; Riese, H; Wilson, JF; Campbell, H; Rich, SS; Psaty, BM; Lu, Y; Rotter, JI; Guo, X; Rice, KM; Vollenweider, P; Sundström, J; Langenberg, C; Tobin, MD; Giedraitis, V; Luan, J; Tuomilehto, J; Kutalik, Z; Ripatti, S; Salomaa, V; Girotto, G; Trompet, S; Jukema, JW; van, der, Harst, P; Ridker, PM; Giulianini, F; Vitart, V; Goel, A; Watkins, H; Harris, SE; Deary, IJ; van, der, Most, PJ; Oldehinkel, AJ; Keavney, BD; Hayward, C; Campbell, A; Boehnke, M; Scott, LJ; Boutin, T; Mamasoula, C; Järvelin, MR; Peters, A; Gieger, C; Lakatta, EG; Cucca, F; Hui, J; Knekt, P; Enroth, S; De, Borst, MH; Polašek, O; Concas, MP; Catamo, E; Cocca, M; Li-Gao, R; Hofer, E; Schmidt, H; Spedicati, B; Waldenberger, M; Strachan, DP; Laan, M; Teumer, A; Dörr, M; Gudnason, V; Cook, JP; Ruggiero, D; Kolcic, I; Boerwinkle, E; Traglia, M; Lehtimäki, T; Raitakari, OT; Johnson, AD; Newton-Cheh, C; Brown, MJ; Dominiczak, AF; Sever, PJ; Poulter, N; Chambers, JC; Elosua, R; Siscovick, D; Esko, T; Metspalu, A; Strawbridge, RJ; Laakso, M; Hamsten, A; Hottenga, JJ; de, Geus, E; Morris, AD; Palmer, CNA; Nolte, IM; Milaneschi, Y; Marten, J; Wright, A; Zeggini, E; Howson, JMM; O'Donnell, CJ; Spector, T; Nalls, MA; Simonsick, EM; Liu, Y; van, Duijn, CM; Butterworth, AS; Danesh, JN; Menni, C; Wareham, NJ; Khaw, KT; Sun, YV; Wilson, PWF; Cho, K; Visscher, PM; Denny, JC; Levy, D; Edwards, TL; Munroe, PB; Snieder, H; Warren, HR, , Million, Veteran, Program;Lifelines, Cohort, Study;CHARGE, consortium;ICBP, Consortium
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.
Nat Genet. 2024;
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Neurofilaments as biomarkers in neurological disorders - towards clinical application.
Nat Rev Neurol. 2024; 20(5): 269-287.
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Intracerebral haemorrhage - mechanisms, diagnosis and prospects for treatment and prevention.
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
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Diagnostic Performance of Cortical Lesions and the Central Vein Sign in Multiple Sclerosis.
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Early vs Late Anticoagulation in Minor, Moderate, and Major Ischemic Stroke With Atrial Fibrillation: Post Hoc Analysis of the ELAN Randomized Clinical Trial.
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Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.
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Treatment response as surrogate to predict risk for disease progression in pediatric medulloblastoma with persistent magnetic resonance imaging lesions after first-line treatment
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Clarke, A; Skerjanz, J; Gsell, MAF; Wiedner, P; Erkan-Candag, H; Groschner, K; Stockner, T; Tiapko, O
PIP2 modulates TRPC3 activity via TRP helix and S4-S5 linker.
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Human whole-exome genotype data for Alzheimer's disease
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Patel, Y; Shin, J; Sliz, E; Tang, A; Mishra, A; Xia, R; Hofer, E; Rajula, HSR; Wang, R; Beyer, F; Horn, K; Riedl, M; Yu, J; Völzke, H; Bülow, R; Völker, U; Frenzel, S; Wittfeld, K; Van, der, Auwera, S; Mosley, TH; Bouteloup, V; Lambert, JC; Chêne, G; Dufouil, C; Tzourio, C; Mangin, JF; Gottesman, RF; Fornage, M; Schmidt, R; Yang, Q; Witte, V; Scholz, M; Loeffler, M; Roshchupkin, GV; Ikram, MA; Grabe, HJ; Seshadri, S; Debette, S; Paus, T; Pausova, Z
Genetic risk factors underlying white matter hyperintensities and cortical atrophy.
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Rocca, MA; Preziosa, P; Barkhof, F; Brownlee, W; Calabrese, M; De Stefano, N; Granziera, C; Ropele, S; Toosy, AT; Vidal-Jordana, A; Di Filippo, M; Filippi, M
Current and future role of MRI in the diagnosis and prognosis of multiple sclerosis
LANCET REG HEALTH-EU. 2024; 44: 100978
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Burden of intracerebral haemorrhage in Europe: forecasting incidence and mortality between 2019 and 2050.
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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
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Weiss, C; Becker, LL; Friese, J; Blaschek, A; Hahn, A; Illsinger, S; Schwartz, O; Bernert, G; von der Hagen, M; Husain, RA; Goldhahn, K; Kirschner, J; Pechmann, A; Flotats-Bastardas, M; Schreiber, G; Schara, U; Plecko, B; Trollmann, R; Horber, V; Wilichowski, E; Baumann, M; Klein, A; Eisenkölbl, A; Köhler, C; Stettner, GM; Cirak, S; Hasselmann, O; Kaindl, AM; Garbade, SF; Johannsen, J; Ziegler, A
Efficacy fi cacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
LANCET REG HEALTH-EU. 2024; 47: 101092
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Amyloid pathology and vascular risk are associated with distinct patterns of cerebral white matter hyperintensities: A multicenter study in 3132 memory clinic patients.
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The ageing central nervous system in multiple sclerosis: the imaging perspective.
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Lebrikizumab improved itch and reduced the extent of itch interference on sleep in patients with moderate-to-severe atopic dermatitis: two randomized, placebo-controlled, phase III trials.
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Continuous iontronic chemotherapy reduces brain tumor growth in embryonic avian in vivo models.
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Temporal and Spatial Clustering of Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy.
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MRI-Based Prediction of Macrovascular Causes of Intracerebral Hemorrhage: The MACRO Score.
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External Validation of a Model for Persistent Perfusion Deficit in Patients With Incomplete Reperfusion After Thrombectomy: EXTEND-PROCEED.
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Associations of Cerebral Small Vessel Disease and Chronic Kidney Disease in Patients With Acute Intracerebral Hemorrhage: A Cross-Sectional Study.
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Disentangling Neurodegeneration From Aging in Multiple Sclerosis Using Deep Learning: The Brain-Predicted Disease Duration Gap.
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Statin Therapy for Secondary Prevention in Ischemic Stroke Patients With Cerebral Microbleeds.
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The Dose-Response Relationship between Opioid Agonist Therapy and Alterations in Pain Pathways in Patients with Opioid Use Disorders: A Cross-Sectional Study.
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A worldwide study of subcortical shape as a marker for clinical staging in Parkinson's disease.
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A worldwide study of white matter microstructural alterations in people living with Parkinson's disease.
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Risk of stroke in patients with prior VKA or DOAC: A population-based real-world registry analysis.
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The power of genetic diversity in genome-wide association studies of lipids.
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Development of imaging-based risk scores for prediction of intracranial haemorrhage and ischaemic stroke in patients taking antithrombotic therapy after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies.
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2021 MAGNIMS-CMSC-NAIMS consensus recommendations on the use of MRI in patients with multiple sclerosis.
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Mind the gap: from neurons to networks to outcomes in multiple sclerosis.
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
NAT GENET. 2021; 53(6): 817-829.
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Temporal changes in total and hippocampal brain volume and cognitive function in patients with chronic heart failure-the COGNITION.MATTERS-HF cohort study.
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Characteristics and Outcomes of Patients With Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia.
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Early Intervention for Children Aged 0 to 2 Years With or at High Risk of Cerebral Palsy: International Clinical Practice Guideline Based on Systematic Reviews.
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Brain Magnetic Resonance Imaging Reveals Different Courses of Disease in Pediatric and Adult Cerebral Malaria.
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Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
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Outcome after acute ischemic stroke is linked to sex-specific lesion patterns.
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O-Linked-N-Acetylglucosaminylation of the RNA-Binding Protein EWS N-Terminal Low Complexity Region Reduces Phase Separation and Enhances Condensate Dynamics.
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
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Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.
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Serum neurofilament light levels in normal aging and their association with morphologic brain changes.
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Cerebral small vessel disease genomics and its implications across the lifespan.
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Cysteine oxidation triggers amyloid fibril formation of the tumor suppressor p16INK4A.
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Cross-sectional and Longitudinal Assessment of Brain Iron Level in Alzheimer Disease Using 3-T MRI.
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Low cardiac lipolysis reduces mitochondrial fission and prevents lipotoxic heart dysfunction in Perilipin 5 mutant mice.
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Longitudinal Assessment of Multiple Sclerosis with the Brain-Age Paradigm.
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Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.
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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
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Outcome measurement in functional neurological disorder: a systematic review and recommendations.
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Amin Al Olama, A; Wason, JMS; Tuladhar, AM; van Leijsen, EMC; Koini, M; Hofer, E; Morris, RG; Schmidt, R; de Leeuw, FE; Markus, HS
Simple MRI score aids prediction of dementia in cerebral small vessel disease.
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Autoantibodies against the prion protein in individuals with PRNP mutations.
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White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype.
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Association of common genetic variants with brain microbleeds: A genome-wide association study.
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Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions.
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Gastrointestinal dysfunction in the critically ill: a systematic scoping review and research agenda proposed by the Section of Metabolism, Endocrinology and Nutrition of the European Society of Intensive Care Medicine.
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Serum neurofilament light chain: No clear relation to cognition and neuropsychiatric symptoms in stable MS.
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Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.
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Quantitative Signal Intensity in Fluid-Attenuated Inversion Recovery and Treatment Effect in the WAKE-UP Trial.
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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Nat Genet. 2019; 51(2):245-257
Doi: 10.1038/s41588-018-0309-3
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Kunkle, BW; Grenier-Boley, B; Sims, R; Bis, JC; Damotte, V; Naj, AC; Boland, A; Vronskaya, M; van der Lee, SJ; Amlie-Wolf, A; Bellenguez, C; Frizatti, A; Chouraki, V; Martin, ER; Sleegers, K; Badarinarayan, N; Jakobsdottir, J; Hamilton-Nelson, KL; Moreno-Grau, S; Olaso, R; Raybould, R; Chen, Y; Kuzma, AB; Hiltunen, M; Morgan, T; Ahmad, S; Vardarajan, BN; Epelbaum, J; Hoffmann, P; Boada, M; Beecham, GW; Garnier, JG; Harold, D; Fitzpatrick, AL; Valladares, O; Moutet, ML; Gerrish, A; Smith, AV; Qu, L; Bacq, D; Denning, N; Jian, X; Zhao, Y; Del Zompo, M; Fox, NC; Choi, SH; Mateo, I; Hughes, JT; Adams, HH; Malamon, J; Sanchez-Garcia, F; Patel, Y; Brody, JA; Dombroski, BA; Naranjo, MCD; Daniilidou, M; Eiriksdottir, G; Mukherjee, S; Wallon, D; Uphill, J; Aspelund, T; Cantwell, LB; Garzia, F; Galimberti, D; Hofer, E; Butkiewicz, M; Fin, B; Scarpini, E; Sarnowski, C; Bush, WS; Meslage, S; Kornhuber, J; White, CC; Song, Y; Barber, RC; Engelborghs, S; Sordon, S; Voijnovic, D; Adams, PM; Vandenberghe, R; Mayhaus, M; Cupples, LA; Albert, MS; De Deyn, PP; Gu, W; Himali, JJ; Beekly, D; Squassina, A; Hartmann, AM; Orellana, A; Blacker, D; Rodriguez-Rodriguez, E; Lovestone, S; Garcia, ME; Doody, RS; Munoz-Fernadez, C; Sussams, R; Lin, H; Fairchild, TJ; Benito, YA; Holmes, C; Karamujić-Čomić, H; Frosch, MP; Thonberg, H; Maier, W; Roschupkin, G; Ghetti, B; Giedraitis, V; Kawalia, A; Li, S; Huebinger, RM; Kilander, L; Moebus, S; Hernández, I; Kamboh, MI; Brundin, R; Turton, J; Yang, Q; Katz, MJ; Concari, L; Lord, J; Beiser, AS; Keene, CD; Helisalmi, S; Kloszewska, I; Kukull, WA; Koivisto, AM; Lynch, A; Tarraga, L; Larson, EB; Haapasalo, A; Lawlor, B; Mosley, TH; Lipton, RB; Solfrizzi, V; Gill, M; Longstreth, WT; Montine, TJ; Frisardi, V; Diez-Fairen, M; Rivadeneira, F; Petersen, RC; Deramecourt, V; Alvarez, I; Salani, F; Ciaramella, A; Boerwinkle, E; Reiman, EM; Fievet, N; Rotter, JI; Reisch, JS; Hanon, O; Cupidi, C; Andre Uitterlinden, AG; Royall, DR; Dufouil, C; Maletta, RG; de Rojas, I; Sano, M; Brice, A; Cecchetti, R; George-Hyslop, PS; Ritchie, K; Tsolaki, M; Tsuang, DW; Dubois, B; Craig, D; Wu, CK; Soininen, H; Avramidou, D; Albin, RL; Fratiglioni, L; Germanou, A; Apostolova, LG; Keller, L; Koutroumani, M; Arnold, SE; Panza, F; Gkatzima, O; Asthana, S; Hannequin, D; Whitehead, P; Atwood, CS; Caffarra, P; Hampel, H; Quintela, I; Carracedo, Á; Lannfelt, L; Rubinsztein, DC; Barnes, LL; Pasquier, F; Frölich, L; Barral, S; McGuinness, B; Beach, TG; Johnston, JA; Becker, JT; Passmore, P; Bigio, EH; Schott, JM; Bird, TD; Warren, JD; Boeve, BF; Lupton, MK; Bowen, JD; Proitsi, P; Boxer, A; Powell, JF; Burke, JR; Kauwe, JSK; Burns, JM; Mancuso, M; Buxbaum, JD; Bonuccelli, U; Cairns, NJ; McQuillin, A; Cao, C; Livingston, G; Carlson, CS; Bass, NJ; Carlsson, CM; Hardy, J; Carney, RM; Bras, J; Carrasquillo, MM; Guerreiro, R; Allen, M; Chui, HC; Fisher, E; Masullo, C; Crocco, EA; DeCarli, C; Bisceglio, G; Dick, M; Ma, L; Duara, R; Graff-Radford, NR; Evans, DA; Hodges, A; Faber, KM; Scherer, M; Fallon, KB; Riemenschneider, M; Fardo, DW; Heun, R; Farlow, MR; Kölsch, H; Ferris, S; Leber, M; Foroud, TM; Heuser, I; Galasko, DR; Giegling, I; Gearing, M; Hüll, M; Geschwind, DH; Gilbert, JR; Morris, J; Green, RC; Mayo, K; Growdon, JH; Feulner, T; Hamilton, RL; Harrell, LE; Drichel, D; Honig, LS; Cushion, TD; Huentelman, MJ; Hollingworth, P; Hulette, CM; Hyman, BT; Marshall, R; Jarvik, GP; Meggy, A; Abner, E; Menzies, GE; Jin, LW; Leonenko, G; Real, LM; Jun, GR; Baldwin, CT ...
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nat Genet. 2019; 51(3): 414-430.
Doi: 10.1038/s41588-019-0358-2
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Satizabal, CL; Adams, HHH; Hibar, DP; White, CC; Knol, MJ; Stein, JL; Scholz, M; Sargurupremraj, M; Jahanshad, N; Roshchupkin, GV; Smith, AV; Bis, JC; Jian, X; Luciano, M; Hofer, E; Teumer, A; van der Lee, SJ; Yang, J; Yanek, LR; Lee, TV; Li, S; Hu, Y; Koh, JY; Eicher, JD; Desrivières, S; Arias-Vasquez, A; Chauhan, G; Athanasiu, L; Rentería, ME; Kim, S; Hoehn, D; Armstrong, NJ; Chen, Q; Holmes, AJ; den Braber, A; Kloszewska, I; Andersson, M; Espeseth, T; Grimm, O; Abramovic, L; Alhusaini, S; Milaneschi, Y; Papmeyer, M; Axelsson, T; Ehrlich, S; Roiz-Santiañez, R; Kraemer, B; Håberg, AK; Jones, HJ; Pike, GB; Stein, DJ; Stevens, A; Bralten, J; Vernooij, MW; Harris, TB; Filippi, I; Witte, AV; Guadalupe, T; Wittfeld, K; Mosley, TH; Becker, JT; Doan, NT; Hagenaars, SP; Saba, Y; Cuellar-Partida, G; Amin, N; Hilal, S; Nho, K; Mirza-Schreiber, N; Arfanakis, K; Becker, DM; Ames, D; Goldman, AL; Lee, PH; Boomsma, DI; Lovestone, S; Giddaluru, S; Le Hellard, S; Mattheisen, M; Bohlken, MM; Kasperaviciute, D; Schmaal, L; Lawrie, SM; Agartz, I; Walton, E; Tordesillas-Gutierrez, D; Davies, GE; Shin, J; Ipser, JC; Vinke, LN; Hoogman, M; Jia, T; Burkhardt, R; Klein, M; Crivello, F; Janowitz, D; Carmichael, O; Haukvik, UK; Aribisala, BS; Schmidt, H; Strike, LT; Cheng, CY; Risacher, SL; Pütz, B; Fleischman, DA; Assareh, AA; Mattay, VS; Buckner, RL; Mecocci, P; Dale, AM; Cichon, S; Boks, MP; Matarin, M; Penninx, BWJH; Calhoun, VD; Chakravarty, MM; Marquand, AF; Macare, C; Kharabian Masouleh, S; Oosterlaan, J; Amouyel, P; Hegenscheid, K; Rotter, JI; Schork, AJ; Liewald, DCM; de Zubicaray, GI; Wong, TY; Shen, L; Sämann, PG; Brodaty, H; Roffman, JL; de Geus, EJC; Tsolaki, M; Erk, S; van Eijk, KR; Cavalleri, GL; van der Wee, NJA; McIntosh, AM; Gollub, RL; Bulayeva, KB; Bernard, M; Richards, JS; Himali, JJ; Loeffler, M; Rommelse, N; Hoffmann, W; Westlye, LT; Valdés Hernández, MC; Hansell, NK; van Erp, TGM; Wolf, C; Kwok, JBJ; Vellas, B; Heinz, A; Olde Loohuis, LM; Delanty, N; Ho, BC; Ching, CRK; Shumskaya, E; Singh, B; Hofman, A; van der Meer, D; Homuth, G; Psaty, BM; Bastin, ME; Montgomery, GW; Foroud, TM; Reppermund, S; Hottenga, JJ; Simmons, A; Meyer-Lindenberg, A; Cahn, W; Whelan, CD; van Donkelaar, MMJ; Yang, Q; Hosten, N; Green, RC; Thalamuthu, A; Mohnke, S; Hulshoff Pol, HE; Lin, H; Jack, CR; Schofield, PR; Mühleisen, TW; Maillard, P; Potkin, SG; Wen, W; Fletcher, E; Toga, AW; Gruber, O; Huentelman, M; Davey Smith, G; Launer, LJ; Nyberg, L; Jönsson, EG; Crespo-Facorro, B; Koen, N; Greve, DN; Uitterlinden, AG; Weinberger, DR; Steen, VM; Fedko, IO; Groenewold, NA; Niessen, WJ; Toro, R; Tzourio, C; Longstreth, WT; Ikram, MK; Smoller, JW; van Tol, MJ; Sussmann, JE; Paus, T; Lemaître, H; Schroeter, ML; Mazoyer, B; Andreassen, OA; Holsboer, F; Depondt, C; Veltman, DJ; Turner, JA; Pausova, Z; Schumann, G; van Rooij, D; Djurovic, S; Deary, IJ; McMahon, KL; Müller-Myhsok, B; Brouwer, RM; Soininen, H; Pandolfo, M; Wassink, TH; Cheung, JW; Wolfers, T; Martinot, JL; Zwiers, MP; Nauck, M; Melle, I; Martin, NG; Kanai, R; Westman, E; Kahn, RS; Sisodiya, SM; White, T; Saremi, A; van Bokhoven, H; Brunner, HG; Völzke, H; Wright, MJ; van 't Ent, D; Nöthen, MM; Ophoff, RA; Buitelaar, JK; Fernández, G; Sachdev, PS; Rietschel, M; van Haren, NEM; Fisher, SE; Beiser, AS; Francks, C; Saykin, AJ; Mather, KA; Romanczuk-Seiferth, N; Hartman, CA; DeStefano, AL; Heslenfeld, DJ; Weiner, MW; Walter, H; Hoekstra, PJ; Nyquist, PA; Franke, B; Bennett, DA; Grabe, HJ; Johnson, AD; Chen, C; va ...
Genetic architecture of subcortical brain structures in 38,851 individuals.
Nat Genet. 2019; 51(11): 1624-1636.
Doi: 10.1038/s41588-019-0511-y
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Tin, A; Marten, J; Halperin Kuhns, VL; Li, Y; Wuttke, M; Kirsten, H; Sieber, KB; Qiu, C; Gorski, M; Yu, Z; Giri, A; Sveinbjornsson, G; Li, M; Chu, AY; Hoppmann, A; O'Connor, LJ; Prins, B; Nutile, T; Noce, D; Akiyama, M; Cocca, M; Ghasemi, S; van der Most, PJ; Horn, K; Xu, Y; Fuchsberger, C; Sedaghat, S; Afaq, S; Amin, N; Ärnlöv, J; Bakker, SJL; Bansal, N; Baptista, D; Bergmann, S; Biggs, ML; Biino, G; Boerwinkle, E; Bottinger, EP; Boutin, TS; Brumat, M; Burkhardt, R; Campana, E; Campbell, A; Campbell, H; Carroll, RJ; Catamo, E; Chambers, JC; Ciullo, M; Concas, MP; Coresh, J; Corre, T; Cusi, D; Felicita, SC; de Borst, MH; De Grandi, A; de Mutsert, R; de Vries, APJ; Delgado, G; Demirkan, A; Devuyst, O; Dittrich, K; Eckardt, KU; Ehret, G; Endlich, K; Evans, MK; Gansevoort, RT; Gasparini, P; Giedraitis, V; Gieger, C; Girotto, G; Gögele, M; Gordon, SD; Gudbjartsson, DF; Gudnason, V; German Chronic Kidney Disease Study; Haller, T; Hamet, P; Harris, TB; Hayward, C; Hicks, AA; Hofer, E; Holm, H; Huang, W; Hutri-Kähönen, N; Hwang, SJ; Ikram, MA; Lewis, RM; Ingelsson, E; Jakobsdottir, J; Jonsdottir, I; Jonsson, H; Joshi, PK; Josyula, NS; Jung, B; Kähönen, M; Kamatani, Y; Kanai, M; Kerr, SM; Kiess, W; Kleber, ME; Koenig, W; Kooner, JS; Körner, A; Kovacs, P; Krämer, BK; Kronenberg, F; Kubo, M; Kühnel, B; La Bianca, M; Lange, LA; Lehne, B; Lehtimäki, T; Lifelines Cohort Study; Liu, J; Loeffler, M; Loos, RJF; Lyytikäinen, LP; Magi, R; Mahajan, A; Martin, NG; März, W; Mascalzoni, D; Matsuda, K; Meisinger, C; Meitinger, T; Metspalu, A; Milaneschi, Y; V. A. Million Veteran Program; O'Donnell, CJ; Wilson, OD; Gaziano, JM; Mishra, PP; Mohlke, KL; Mononen, N; Montgomery, GW; Mook-Kanamori, DO; Müller-Nurasyid, M; Nadkarni, GN; Nalls, MA; Nauck, M; Nikus, K; Ning, B; Nolte, IM; Noordam, R; O'Connell, JR; Olafsson, I; Padmanabhan, S; Penninx, BWJH; Perls, T; Peters, A; Pirastu, M; Pirastu, N; Pistis, G; Polasek, O; Ponte, B; Porteous, DJ; Poulain, T; Preuss, MH; Rabelink, TJ; Raffield, LM; Raitakari, OT; Rettig, R; Rheinberger, M; Rice, KM; Rizzi, F; Robino, A; Rudan, I; Krajcoviechova, A; Cifkova, R; Rueedi, R; Ruggiero, D; Ryan, KA; Saba, Y; Salvi, E; Schmidt, H; Schmidt, R; Shaffer, CM; Smith, AV; Smith, BH; Spracklen, CN; Strauch, K; Stumvoll, M; Sulem, P; Tajuddin, SM; Teren, A; Thiery, J; Thio, CHL; Thorsteinsdottir, U; Toniolo, D; Tönjes, A; Tremblay, J; Uitterlinden, AG; Vaccargiu, S; van der Harst, P; van Duijn, CM; Verweij, N; Völker, U; Vollenweider, P; Waeber, G; Waldenberger, M; Whitfield, JB; Wild, SH; Wilson, JF; Yang, Q; Zhang, W; Zonderman, AB; Bochud, M; Wilson, JG; Pendergrass, SA; Ho, K; Parsa, A; Pramstaller, PP; Psaty, BM; Böger, CA; Snieder, H; Butterworth, AS; Okada, Y; Edwards, TL; Stefansson, K; Susztak, K; Scholz, M; Heid, IM; Hung, AM; Teumer, A; Pattaro, C; Woodward, OM; Vitart, V; Köttgen, A
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Nat Genet. 2019; 51(10): 1459-1474.
Doi: 10.1038/s41588-019-0504-x
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Wuttke, M; Li, Y; Li, M; Sieber, KB; Feitosa, MF; Gorski, M; Tin, A; Wang, L; Chu, AY; Hoppmann, A; Kirsten, H; Giri, A; Chai, JF; Sveinbjornsson, G; Tayo, BO; Nutile, T; Fuchsberger, C; Marten, J; Cocca, M; Ghasemi, S; Xu, Y; Horn, K; Noce, D; van der Most, PJ; Sedaghat, S; Yu, Z; Akiyama, M; Afaq, S; Ahluwalia, TS; Almgren, P; Amin, N; Ärnlöv, J; Bakker, SJL; Bansal, N; Baptista, D; Bergmann, S; Biggs, ML; Biino, G; Boehnke, M; Boerwinkle, E; Boissel, M; Bottinger, EP; Boutin, TS; Brenner, H; Brumat, M; Burkhardt, R; Butterworth, AS; Campana, E; Campbell, A; Campbell, H; Canouil, M; Carroll, RJ; Catamo, E; Chambers, JC; Chee, ML; Chee, ML; Chen, X; Cheng, CY; Cheng, Y; Christensen, K; Cifkova, R; Ciullo, M; Concas, MP; Cook, JP; Coresh, J; Corre, T; Sala, CF; Cusi, D; Danesh, J; Daw, EW; de Borst, MH; De Grandi, A; de Mutsert, R; de Vries, APJ; Degenhardt, F; Delgado, G; Demirkan, A; Di Angelantonio, E; Dittrich, K; Divers, J; Dorajoo, R; Eckardt, KU; Ehret, G; Elliott, P; Endlich, K; Evans, MK; Felix, JF; Foo, VHX; Franco, OH; Franke, A; Freedman, BI; Freitag-Wolf, S; Friedlander, Y; Froguel, P; Gansevoort, RT; Gao, H; Gasparini, P; Gaziano, JM; Giedraitis, V; Gieger, C; Girotto, G; Giulianini, F; Gögele, M; Gordon, SD; Gudbjartsson, DF; Gudnason, V; Haller, T; Hamet, P; Harris, TB; Hartman, CA; Hayward, C; Hellwege, JN; Heng, CK; Hicks, AA; Hofer, E; Huang, W; Hutri-Kähönen, N; Hwang, SJ; Ikram, MA; Indridason, OS; Ingelsson, E; Ising, M; Jaddoe, VWV; Jakobsdottir, J; Jonas, JB; Joshi, PK; Josyula, NS; Jung, B; Kähönen, M; Kamatani, Y; Kammerer, CM; Kanai, M; Kastarinen, M; Kerr, SM; Khor, CC; Kiess, W; Kleber, ME; Koenig, W; Kooner, JS; Körner, A; Kovacs, P; Kraja, AT; Krajcoviechova, A; Kramer, H; Krämer, BK; Kronenberg, F; Kubo, M; Kühnel, B; Kuokkanen, M; Kuusisto, J; La Bianca, M; Laakso, M; Lange, LA; Langefeld, CD; Lee, JJ; Lehne, B; Lehtimäki, T; Lieb, W; Lifelines Cohort Study; Lim, SC; Lind, L; Lindgren, CM; Liu, J; Liu, J; Loeffler, M; Loos, RJF; Lucae, S; Lukas, MA; Lyytikäinen, LP; Mägi, R; Magnusson, PKE; Mahajan, A; Martin, NG; Martins, J; März, W; Mascalzoni, D; Matsuda, K; Meisinger, C; Meitinger, T; Melander, O; Metspalu, A; Mikaelsdottir, EK; Milaneschi, Y; Miliku, K; Mishra, PP; V. A. Million Veteran Program; Mohlke, KL; Mononen, N; Montgomery, GW; Mook-Kanamori, DO; Mychaleckyj, JC; Nadkarni, GN; Nalls, MA; Nauck, M; Nikus, K; Ning, B; Nolte, IM; Noordam, R; O'Connell, J; O'Donoghue, ML; Olafsson, I; Oldehinkel, AJ; Orho-Melander, M; Ouwehand, WH; Padmanabhan, S; Palmer, ND; Palsson, R; Penninx, BWJH; Perls, T; Perola, M; Pirastu, M; Pirastu, N; Pistis, G; Podgornaia, AI; Polasek, O; Ponte, B; Porteous, DJ; Poulain, T; Pramstaller, PP; Preuss, MH; Prins, BP; Province, MA; Rabelink, TJ; Raffield, LM; Raitakari, OT; Reilly, DF; Rettig, R; Rheinberger, M; Rice, KM; Ridker, PM; Rivadeneira, F; Rizzi, F; Roberts, DJ; Robino, A; Rossing, P; Rudan, I; Rueedi, R; Ruggiero, D; Ryan, KA; Saba, Y; Sabanayagam, C; Salomaa, V; Salvi, E; Saum, KU; Schmidt, H; Schmidt, R; Schöttker, B; Schulz, CA; Schupf, N; Shaffer, CM; Shi, Y; Smith, AV; Smith, BH; Soranzo, N; Spracklen, CN; Strauch, K; Stringham, HM; Stumvoll, M; Svensson, PO; Szymczak, S; Tai, ES; Tajuddin, SM; Tan, NYQ; Taylor, KD; Teren, A; Tham, YC; Thiery, J; Thio, CHL; Thomsen, H; Thorleifsson, G; Toniolo, D; Tönjes, A; Tremblay, J; Tzoulaki, I; Uitterlinden, AG; Vaccargiu, S; van Dam, RM; van der Harst, P; van Duijn, CM; Velez Edward, DR; Verweij, N; Vogelezang, S; V ...
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Nat Genet. 2019; 51(6): 957-972.
Doi: 10.1038/s41588-019-0407-x
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Ip, CK; Zhang, L; Farzi, A; Qi, Y; Clarke, I; Reed, F; Shi, YC; Enriquez, R; Dayas, C; Graham, B; Begg, D; Brüning, JC; Lee, NJ; Hernandez-Sanchez, D; Gopalasingam, G; Koller, J; Tasan, R; Sperk, G; Herzog, H
Amygdala NPY Circuits Promote the Development of Accelerated Obesity under Chronic Stress Conditions.
Cell Metab. 2019; 30(1):111-128
Doi: 10.1016/j.cmet.2019.04.001
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Thrippleton, MJ; Backes, WH; Sourbron, S; Ingrisch, M; van Osch, MJP; Dichgans, M; Fazekas, F; Ropele, S; Frayne, R; van Oostenbrugge, RJ; Smith, EE; Wardlaw, JM
Quantifying blood-brain barrier leakage in small vessel disease: Review and consensus recommendations.
ALZHEIMERS DEMENT. 2019; 15(6): 840-858.
Doi: 10.1016/j.jalz.2019.01.013
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Schopf, FH; Huber, EM; Dodt, C; Lopez, A; Biebl, MM; Rutz, DA; Mühlhofer, M; Richter, G; Madl, T; Sattler, M; Groll, M; Buchner, J
The Co-chaperone Cns1 and the Recruiter Protein Hgh1 Link Hsp90 to Translation Elongation via Chaperoning Elongation Factor 2.
MOL CELL. 2019; 74(1): 73-87.
Doi: 10.1016/j.molcel.2019.02.011
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Günthner, R; Hanssen, H; Hauser, C; Angermann, S; Lorenz, G; Kemmner, S; Matschkal, J; Braunisch, MC; Kuechle, C; Renders, L; Moog, P; Wassertheurer, S; Baumann, M; Hammes, HP; Mayer, CC; Haller, B; Stryeck, S; Madl, T; Carbajo-Lozoya, J; Heemann, U; Kotliar, K; Schmaderer, C
Impaired Retinal Vessel Dilation Predicts Mortality in End-Stage Renal Disease.
Circ Res. 2019;
Doi: 10.1161/CIRCRESAHA.118.314318
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Barow, E; Boutitie, F; Cheng, B; Cho, TH; Ebinger, M; Endres, M; Fiebach, JB; Fiehler, J; Ford, I; Galinovic, I; Nickel, A; Puig, J; Roy, P; Wouters, A; Magnus, T; Thijs, V; Lemmens, R; Muir, KW; Nighoghossian, N; Pedraza, S; Simonsen, CZ; Gerloff, C; Thomalla, G; WAKE-UP Investigators
Functional Outcome of Intravenous Thrombolysis in Patients With Lacunar Infarcts in the WAKE-UP Trial.
JAMA Neurol. 2019; 76(6): 641-649.
Doi: 10.1001/jamaneurol.2019.0351
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Associations of autozygosity with a broad range of human phenotypes.
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Malik, R; Chauhan, G; Traylor, M; Sargurupremraj, M; Okada, Y; Mishra, A; Rutten-Jacobs, L; Giese, AK; van der Laan, SW; Gretarsdottir, S; Anderson, CD; Chong, M; Adams, HHH; Ago, T; Almgren, P; Amouyel, P; Ay, H; Bartz, TM; Benavente, OR; Bevan, S; Boncoraglio, GB; Brown, RD; Butterworth, AS; Carrera, C; Carty, CL; Chasman, DI; Chen, WM; Cole, JW; Correa, A; Cotlarciuc, I; Cruchaga, C; Danesh, J; de Bakker, PIW; DeStefano, AL; den Hoed, M; Duan, Q; Engelter, ST; Falcone, GJ; Gottesman, RF; Grewal, RP; Gudnason, V; Gustafsson, S; Haessler, J; Harris, TB; Hassan, A; Havulinna, AS; Heckbert, SR; Holliday, EG; Howard, G; Hsu, FC; Hyacinth, HI; Ikram, MA; Ingelsson, E; Irvin, MR; Jian, X; Jiménez-Conde, J; Johnson, JA; Jukema, JW; Kanai, M; Keene, KL; Kissela, BM; Kleindorfer, DO; Kooperberg, C; Kubo, M; Lange, LA; Langefeld, CD; Langenberg, C; Launer, LJ; Lee, JM; Lemmens, R; Leys, D; Lewis, CM; Lin, WY; Lindgren, AG; Lorentzen, E; Magnusson, PK; Maguire, J; Manichaikul, A; McArdle, PF; Meschia, JF; Mitchell, BD; Mosley, TH; Nalls, MA; Ninomiya, T; O'Donnell, MJ; Psaty, BM; Pulit, SL; Rannikmäe, K; Reiner, AP; Rexrode, KM; Rice, K; Rich, SS; Ridker, PM; Rost, NS; Rothwell, PM; Rotter, JI; Rundek, T; Sacco, RL; Sakaue, S; Sale, MM; Salomaa, V; Sapkota, BR; Schmidt, R; Schmidt, CO; Schminke, U; Sharma, P; Slowik, A; Sudlow, CLM; Tanislav, C; Tatlisumak, T; Taylor, KD; Thijs, VNS; Thorleifsson, G; Thorsteinsdottir, U; Tiedt, S; Trompet, S; Tzourio, C; van Duijn, CM; Walters, M; Wareham, NJ; Wassertheil-Smoller, S; Wilson, JG; Wiggins, KL; Yang, Q; Yusuf, S; Bis, JC; Pastinen, T; Ruusalepp, A; Schadt, EE; Koplev, S; Björkegren, JLM; Codoni, V; Civelek, M; Smith, NL; Trégouët, DA; Christophersen, IE; Roselli, C; Lubitz, SA; Ellinor, PT; Tai, ES; Kooner, JS; Kato, N; He, J; van der Harst, P; Elliott, P; Chambers, JC; Takeuchi, F; Johnson, AD; Sanghera, DK; Melander, O; Jern, C; Strbian, D; Fernandez-Cadenas, I; Longstreth, WT; Rolfs, A; Hata, J; Woo, D; Rosand, J; Pare, G; Hopewell, JC; Saleheen, D; Stefansson, K; Worrall, BB; Kittner, SJ; Seshadri, S; Fornage, M; Markus, HS; Howson, JMM; Kamatani, Y; Debette, S; Dichgans, M; Malik, R; Chauhan, G; Traylor, M; Sargurupremraj, M; Okada, Y; Mishra, A; Rutten-Jacobs, L; Giese, AK; van der Laan, SW; Gretarsdottir, S; Anderson, CD; Chong, M; Adams, HHH; Ago, T; Almgren, P; Amouyel, P; Ay, H; Bartz, TM; Benavente, OR; Bevan, S; Boncoraglio, GB; Brown, RD; Butterworth, AS; Carrera, C; Carty, CL; Chasman, DI; Chen, WM; Cole, JW; Correa, A; Cotlarciuc, I; Cruchaga, C; Danesh, J; de Bakker, PIW; DeStefano, AL; Hoed, MD; Duan, Q; Engelter, ST; Falcone, GJ; Gottesman, RF; Grewal, RP; Gudnason, V; Gustafsson, S; Haessler, J; Harris, TB; Hassan, A; Havulinna, AS; Heckbert, SR; Holliday, EG; Howard, G; Hsu, FC; Hyacinth, HI; Ikram, MA; Ingelsson, E; Irvin, MR; Jian, X; Jiménez-Conde, J; Johnson, JA; Jukema, JW; Kanai, M; Keene, KL; Kissela, BM; Kleindorfer, DO; Kooperberg, C; Kubo, M; Lange, LA; Langefeld, CD; Langenberg, C; Launer, LJ; Lee, JM; Lemmens, R; Leys, D; Lewis, CM; Lin, WY; Lindgren, AG; Lorentzen, E; Magnusson, PK; Maguire, J; Manichaikul, A; McArdle, PF; Meschia, JF; Mitchell, BD; Mosley, TH; Nalls, MA; Ninomiya, T; O'Donnell, MJ; Psaty, BM; Pulit, SL; Rannikmäe, K; Reiner, AP; Rexrode, KM; Rice, K; Rich, SS; Ridker, PM; Rost, NS; Rothwell, PM; Rotter, JI; Rundek, T; Sacco, RL; Sakaue, S; Sale, MM; Salomaa, V; Sapkota, BR; Schmidt, R; Schmidt, CO; Schminke, U; Sharma, P; Slowik, A; Sudlow, CLM; Ta ...
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Nat Genet. 2018; 50(4):524-537
Doi: 10.1038/s41588-018-0058-3
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Geraldes, R; Ciccarelli, O; Barkhof, F; De Stefano, N; Enzinger, C; Filippi, M; Hofer, M; Paul, F; Preziosa, P; Rovira, A; DeLuca, GC; Kappos, L; Yousry, T; Fazekas, F; Frederiksen, J; Gasperini, C; Sastre-Garriga, J; Evangelou, N; Palace, J; MAGNIMS study group
The current role of MRI in differentiating multiple sclerosis from its imaging mimics.
NAT REV NEUROL. 2018; 14(4): 199-213.
Doi: 10.1038/nrneurol.2018.14
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Khalil, M; Teunissen, CE; Otto, M; Piehl, F; Sormani, MP; Gattringer, T; Barro, C; Kappos, L; Comabella, M; Fazekas, F; Petzold, A; Blennow, K; Zetterberg, H; Kuhle, J
Neurofilaments as biomarkers in neurological disorders.
Nat Rev Neurol. 2018; 14(10):577-589
Doi: 10.1038/s41582-018-0058-z
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International Consortium on Lithium Genetics (ConLi+Gen); Amare, AT; Schubert, KO; Hou, L; Clark, SR; Papiol, S; Heilbronner, U; Degenhardt, F; Tekola-Ayele, F; Hsu, YH; Shekhtman, T; Adli, M; Akula, N; Akiyama, K; Ardau, R; Arias, B; Aubry, JM; Backlund, L; Bhattacharjee, AK; Bellivier, F; Benabarre, A; Bengesser, S; Biernacka, JM; Birner, A; Brichant-Petitjean, C; Cervantes, P; Chen, HC; Chillotti, C; Cichon, S; Cruceanu, C; Czerski, PM; Dalkner, N; Dayer, A; Del Zompo, M; DePaulo, JR; Étain, B; Falkai, P; Forstner, AJ; Frisen, L; Frye, MA; Fullerton, JM; Gard, S; Garnham, JS; Goes, FS; Grigoroiu-Serbanescu, M; Grof, P; Hashimoto, R; Hauser, J; Herms, S; Hoffmann, P; Hofmann, A; Jamain, S; Jiménez, E; Kahn, JP; Kassem, L; Kuo, PH; Kato, T; Kelsoe, J; Kittel-Schneider, S; Kliwicki, S; König, B; Kusumi, I; Laje, G; Landén, M; Lavebratt, C; Leboyer, M; Leckband, SG; Tortorella, A; Manchia, M; Martinsson, L; McCarthy, MJ; McElroy, S; Colom, F; Mitjans, M; Mondimore, FM; Monteleone, P; Nievergelt, CM; Nöthen, MM; Novák, T; O'Donovan, C; Ozaki, N; Ösby, U; Pfennig, A; Potash, JB; Reif, A; Reininghaus, E; Rouleau, GA; Rybakowski, JK; Schalling, M; Schofield, PR; Schweizer, BW; Severino, G; Shilling, PD; Shimoda, K; Simhandl, C; Slaney, CM; Squassina, A; Stamm, T; Stopkova, P; Maj, M; Turecki, G; Vieta, E; Volkert, J; Witt, S; Wright, A; Zandi, PP; Mitchell, PB; Bauer, M; Alda, M; Rietschel, M; McMahon, FJ; Schulze, TG; Baune, BT
Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.
JAMA Psychiatry. 2018; 75(1):65-74
Doi: 10.1001/jamapsychiatry.2017.3433
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Duering, M; Finsterwalder, S; Baykara, E; Tuladhar, AM; Gesierich, B; Konieczny, MJ; Malik, R; Franzmeier, N; Ewers, M; Jouvent, E; Biessels, GJ; Schmidt, R; de Leeuw, FE; Pasternak, O; Dichgans, M
Free water determines diffusion alterations and clinical status in cerebral small vessel disease.
Alzheimers Dement. 2018; 14(6):764-774
Doi: 10.1016/j.jalz.2017.12.007
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Cristóvão, JS; Morris, VK; Cardoso, I; Leal, SS; Martínez, J; Botelho, HM; Göbl, C; David, R; Kierdorf, K; Alemi, M; Madl, T; Fritz, G; Reif, B; Gomes, CM
The neuronal S100B protein is a calcium-tuned suppressor of amyloid-β aggregation.
SCI ADV. 2018; 4(6): eaaq1702-eaaq1702.
Doi: 10.1126/sciadv.aaq1702
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Harripaul, R; Vasli, N; Mikhailov, A; Rafiq, MA; Mittal, K; Windpassinger, C; Sheikh, TI; Noor, A; Mahmood, H; Downey, S; Johnson, M; Vleuten, K; Bell, L; Ilyas, M; Khan, FS; Khan, V; Moradi, M; Ayaz, M; Naeem, F; Heidari, A; Ahmed, I; Ghadami, S; Agha, Z; Zeinali, S; Qamar, R; Mozhdehipanah, H; John, P; Mir, A; Ansar, M; French, L; Ayub, M; Vincent, JB
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Mol Psychiatry. 2018; 23(4):973-984
Doi: 10.1038/mp.2017.60
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Davies, G; Lam, M; Harris, SE; Trampush, JW; Luciano, M; Hill, WD; Hagenaars, SP; Ritchie, SJ; Marioni, RE; Fawns-Ritchie, C; Liewald, DCM; Okely, JA; Ahola-Olli, AV; Barnes, CLK; Bertram, L; Bis, JC; Burdick, KE; Christoforou, A; DeRosse, P; Djurovic, S; Espeseth, T; Giakoumaki, S; Giddaluru, S; Gustavson, DE; Hayward, C; Hofer, E; Ikram, MA; Karlsson, R; Knowles, E; Lahti, J; Leber, M; Li, S; Mather, KA; Melle, I; Morris, D; Oldmeadow, C; Palviainen, T; Payton, A; Pazoki, R; Petrovic, K; Reynolds, CA; Sargurupremraj, M; Scholz, M; Smith, JA; Smith, AV; Terzikhan, N; Thalamuthu, A; Trompet, S; van der Lee, SJ; Ware, EB; Windham, BG; Wright, MJ; Yang, J; Yu, J; Ames, D; Amin, N; Amouyel, P; Andreassen, OA; Armstrong, NJ; Assareh, AA; Attia, JR; Attix, D; Avramopoulos, D; Bennett, DA; Böhmer, AC; Boyle, PA; Brodaty, H; Campbell, H; Cannon, TD; Cirulli, ET; Congdon, E; Conley, ED; Corley, J; Cox, SR; Dale, AM; Dehghan, A; Dick, D; Dickinson, D; Eriksson, JG; Evangelou, E; Faul, JD; Ford, I; Freimer, NA; Gao, H; Giegling, I; Gillespie, NA; Gordon, SD; Gottesman, RF; Griswold, ME; Gudnason, V; Harris, TB; Hartmann, AM; Hatzimanolis, A; Heiss, G; Holliday, EG; Joshi, PK; Kähönen, M; Kardia, SLR; Karlsson, I; Kleineidam, L; Knopman, DS; Kochan, NA; Konte, B; Kwok, JB; Le Hellard, S; Lee, T; Lehtimäki, T; Li, SC; Liu, T; Koini, M; London, E; Longstreth, WT; Lopez, OL; Loukola, A; Luck, T; Lundervold, AJ; Lundquist, A; Lyytikäinen, LP; Martin, NG; Montgomery, GW; Murray, AD; Need, AC; Noordam, R; Nyberg, L; Ollier, W; Papenberg, G; Pattie, A; Polasek, O; Poldrack, RA; Psaty, BM; Reppermund, S; Riedel-Heller, SG; Rose, RJ; Rotter, JI; Roussos, P; Rovio, SP; Saba, Y; Sabb, FW; Sachdev, PS; Satizabal, CL; Schmid, M; Scott, RJ; Scult, MA; Simino, J; Slagboom, PE; Smyrnis, N; Soumaré, A; Stefanis, NC; Stott, DJ; Straub, RE; Sundet, K; Taylor, AM; Taylor, KD; Tzoulaki, I; Tzourio, C; Uitterlinden, A; Vitart, V; Voineskos, AN; Kaprio, J; Wagner, M; Wagner, H; Weinhold, L; Wen, KH; Widen, E; Yang, Q; Zhao, W; Adams, HHH; Arking, DE; Bilder, RM; Bitsios, P; Boerwinkle, E; Chiba-Falek, O; Corvin, A; De Jager, PL; Debette, S; Donohoe, G; Elliott, P; Fitzpatrick, AL; Gill, M; Glahn, DC; Hägg, S; Hansell, NK; Hariri, AR; Ikram, MK; Jukema, JW; Vuoksimaa, E; Keller, MC; Kremen, WS; Launer, L; Lindenberger, U; Palotie, A; Pedersen, NL; Pendleton, N; Porteous, DJ; Räikkönen, K; Raitakari, OT; Ramirez, A; Reinvang, I; Rudan, I; Dan Rujescu, I; Schmidt, R; Schmidt, H; Schofield, PW; Schofield, PR; Starr, JM; Steen, VM; Trollor, JN; Turner, ST; Van Duijn, CM; Villringer, A; Weinberger, DR; Weir, DR; Wilson, JF; Malhotra, A; McIntosh, AM; Gale, CR; Seshadri, S; Mosley, TH; Bressler, J; Lencz, T; Deary, IJ
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Nat Commun. 2018; 9(1):2098-2098
Doi: 10.1038/s41467-018-04362-x
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Franceschini, N; Giambartolomei, C; de Vries, PS; Finan, C; Bis, JC; Huntley, RP; Lovering, RC; Tajuddin, SM; Winkler, TW; Graff, M; Kavousi, M; Dale, C; Smith, AV; Hofer, E; van Leeuwen, EM; Nolte, IM; Lu, L; Scholz, M; Sargurupremraj, M; Pitkänen, N; Franzén, O; Joshi, PK; Noordam, R; Marioni, RE; Hwang, SJ; Musani, SK; Schminke, U; Palmas, W; Isaacs, A; Correa, A; Zonderman, AB; Hofman, A; Teumer, A; Cox, AJ; Uitterlinden, AG; Wong, A; Smit, AJ; Newman, AB; Britton, A; Ruusalepp, A; Sennblad, B; Hedblad, B; Pasaniuc, B; Penninx, BW; Langefeld, CD; Wassel, CL; Tzourio, C; Fava, C; Baldassarre, D; O'Leary, DH; Teupser, D; Kuh, D; Tremoli, E; Mannarino, E; Grossi, E; Boerwinkle, E; Schadt, EE; Ingelsson, E; Veglia, F; Rivadeneira, F; Beutner, F; Chauhan, G; Heiss, G; Snieder, H; Campbell, H; Völzke, H; Markus, HS; Deary, IJ; Jukema, JW; de Graaf, J; Price, J; Pott, J; Hopewell, JC; Liang, J; Thiery, J; Engmann, J; Gertow, K; Rice, K; Taylor, KD; Dhana, K; Kiemeney, LALM; Lind, L; Raffield, LM; Launer, LJ; Holdt, LM; Dörr, M; Dichgans, M; Traylor, M; Sitzer, M; Kumari, M; Kivimaki, M; Nalls, MA; Melander, O; Raitakari, O; Franco, OH; Rueda-Ochoa, OL; Roussos, P; Whincup, PH; Amouyel, P; Giral, P; Anugu, P; Wong, Q; Malik, R; Rauramaa, R; Burkhardt, R; Hardy, R; Schmidt, R; de Mutsert, R; Morris, RW; Strawbridge, RJ; Wannamethee, SG; Hägg, S; Shah, S; McLachlan, S; Trompet, S; Seshadri, S; Kurl, S; Heckbert, SR; Ring, S; Harris, TB; Lehtimäki, T; Galesloot, TE; Shah, T; de Faire, U; Plagnol, V; Rosamond, WD; Post, W; Zhu, X; Zhang, X; Guo, X; Saba, Y; MEGASTROKE Consortium; Dehghan, A; Seldenrijk, A; Morrison, AC; Hamsten, A; Psaty, BM; van Duijn, CM; Lawlor, DA; Mook-Kanamori, DO; Bowden, DW; Schmidt, H; Wilson, JF; Wilson, JG; Rotter, JI; Wardlaw, JM; Deanfield, J; Halcox, J; Lyytikäinen, LP; Loeffler, M; Evans, MK; Debette, S; Humphries, SE; Völker, U; Gudnason, V; Hingorani, AD; Björkegren, JLM; Casas, JP; O'Donnell, CJ
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.
Nat Commun. 2018; 9(1): 5141-5141.
Doi: 10.1038/s41467-018-07340-5
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Rutz, DA; Luo, Q; Freiburger, L; Madl, T; Kaila, VRI; Sattler, M; Buchner, J
A switch point in the molecular chaperone Hsp90 responding to client interaction.
NAT COMMUN. 2018; 9(1): 1472-1472.
Doi: 10.1038/s41467-018-03946-x
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Vojinovic, D; Adams, HH; Jian, X; Yang, Q; Smith, AV; Bis, JC; Teumer, A; Scholz, M; Armstrong, NJ; Hofer, E; Saba, Y; Luciano, M; Bernard, M; Trompet, S; Yang, J; Gillespie, NA; van der Lee, SJ; Neumann, A; Ahmad, S; Andreassen, OA; Ames, D; Amin, N; Arfanakis, K; Bastin, ME; Becker, DM; Beiser, AS; Beyer, F; Brodaty, H; Bryan, RN; Bülow, R; Dale, AM; De Jager, PL; Deary, IJ; DeCarli, C; Fleischman, DA; Gottesman, RF; van der Grond, J; Gudnason, V; Harris, TB; Homuth, G; Knopman, DS; Kwok, JB; Lewis, CE; Li, S; Loeffler, M; Lopez, OL; Maillard, P; El Marroun, H; Mather, KA; Mosley, TH; Muetzel, RL; Nauck, M; Nyquist, PA; Panizzon, MS; Pausova, Z; Psaty, BM; Rice, K; Rotter, JI; Royle, N; Satizabal, CL; Schmidt, R; Schofield, PR; Schreiner, PJ; Sidney, S; Stott, DJ; Thalamuthu, A; Uitterlinden, AG; Valdés Hernández, MC; Vernooij, MW; Wen, W; White, T; Witte, AV; Wittfeld, K; Wright, MJ; Yanek, LR; Tiemeier, H; Kremen, WS; Bennett, DA; Jukema, JW; Paus, T; Wardlaw, JM; Schmidt, H; Sachdev, PS; Villringer, A; Grabe, HJ; Longstreth, WT; van Duijn, CM; Launer, LJ; Seshadri, S; Ikram, MA; Fornage, M
Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume.
Nat Commun. 2018; 9(1): 3945-3945.
Doi: 10.1038/s41467-018-06234-w
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Eshaghi, A; Marinescu, RV; Young, AL; Firth, NC; Prados, F; Jorge Cardoso, M; Tur, C; De Angelis, F; Cawley, N; Brownlee, WJ; De Stefano, N; Laura Stromillo, M; Battaglini, M; Ruggieri, S; Gasperini, C; Filippi, M; Rocca, MA; Rovira, A; Sastre-Garriga, J; Geurts, JJG; Vrenken, H; Wottschel, V; Leurs, CE; Uitdehaag, B; Pirpamer, L; Enzinger, C; Ourselin, S; Gandini Wheeler-Kingshott, CA; Chard, D; Thompson, AJ; Barkhof, F; Alexander, DC; Ciccarelli, O
Progression of regional grey matter atrophy in multiple sclerosis.
Brain. 2018; 141(6):1665-1677
Doi: 10.1093/brain/awy088
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
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FUNDAMANT: an interventional 72-week phase 1 follow-up study of AADvac1, an active immunotherapy against tau protein pathology in Alzheimer's disease.
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Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging.
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CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
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Genome-wide association study identifies 74 loci associated with educational attainment.
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Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
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Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
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Microbleeds International Collaborative Network
Worldwide collaboration in the Microbleeds International Collaborative Network.
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Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, the Stroke Genetics Network (SiGN), and the International Stroke Genetics Consortium (ISGC)
Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies.
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NINDS Stroke Genetics Network (SiGN); International Stroke Genetics Consortium (ISGC)
Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.
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Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Nat Neurosci. 2016; 19(12):1569-1582
Doi: 10.1038/nn.4398
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Ibrahim-Verbaas, CA; Bressler, J; Debette, S; Schuur, M; Smith, AV; Bis, JC; Davies, G; Trompet, S; Smith, JA; Wolf, C; Chibnik, LB; Liu, Y; Vitart, V; Kirin, M; Petrovic, K; Polasek, O; Zgaga, L; Fawns-Ritchie, C; Hoffmann, P; Karjalainen, J; Lahti, J; Llewellyn, DJ; Schmidt, CO; Mather, KA; Chouraki, V; Sun, Q; Resnick, SM; Rose, LM; Oldmeadow, C; Stewart, M; Smith, BH; Gudnason, V; Yang, Q; Mirza, SS; Jukema, JW; deJager, PL; Harris, TB; Liewald, DC; Amin, N; Coker, LH; Stegle, O; Lopez, OL; Schmidt, R; Teumer, A; Ford, I; Karbalai, N; Becker, JT; Jonsdottir, MK; Au, R; Fehrmann, R; Herms, S; Nalls, M; Zhao, W; Turner, ST; Yaffe, K; Lohman, K; van Swieten, JC; Kardia, S; Knopman, DS; Meeks, WM; Heiss, G; Holliday, EG; Schofield, PW; Tanaka, T; Stott, DJ; Wang, J; Ridker, P; Gow, AJ; Pattie, A; Starr, JM; Hocking, LJ; Armstrong, NJ; McLachlan, S; Shulman, JM; Pilling, LC; Eiriksdottir, G; Scott, RJ; Kochan, NA; Palotie, A; Hsieh, YC; Eriksson, JG; Penman, A; Gottesman, RF; Oostra, BA; Yu, L; DeStefano, AL; Beiser, A; Garcia, M; Rotter, JI; Nöthen, MM; Hofman, A; Slagboom, PE; Westendorp, R; Buckley, BM; Wolf, PA; Uitterlinden, AG; Psaty, BM; Grabe, HJ; Bandinelli, S; Chasman, DI; Grodstein, F; Räikkönen, K; Lambert, JC; Porteous, DJ; Generation Scotland; Price, JF; Sachdev, PS; Ferrucci, L; Attia, JR; Rudan, I; Hayward, C; Wright, AF; Wilson, JF; Cichon, S; Franke, L; Schmidt, H; Ding, J; de Craen, A; Fornage, M; Bennett, DA; Deary, IJ; Ikram, MA; Launer, LJ; Fitzpatrick, AL; Seshadri, S; van Duijn, CM; Mosley, TH
GWAS for executive function and processing speed suggests involvement of the CADM2 gene.
Mol Psychiatry. 2016; 21(2):189-197
Doi: 10.1038/mp.2015.37
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Jun, G; Ibrahim-Verbaas, CA; Vronskaya, M; Lambert, JC; Chung, J; Naj, AC; Kunkle, BW; Wang, LS; Bis, JC; Bellenguez, C; Harold, D; Lunetta, KL; Destefano, AL; Grenier-Boley, B; Sims, R; Beecham, GW; Smith, AV; Chouraki, V; Hamilton-Nelson, KL; Ikram, MA; Fievet, N; Denning, N; Martin, ER; Schmidt, H; Kamatani, Y; Dunstan, ML; Valladares, O; Laza, AR; Zelenika, D; Ramirez, A; Foroud, TM; Choi, SH; Boland, A; Becker, T; Kukull, WA; van der Lee, SJ; Pasquier, F; Cruchaga, C; Beekly, D; Fitzpatrick, AL; Hanon, O; Gill, M; Barber, R; Gudnason, V; Campion, D; Love, S; Bennett, DA; Amin, N; Berr, C; Tsolaki, M; Buxbaum, JD; Lopez, OL; Deramecourt, V; Fox, NC; Cantwell, LB; Tárraga, L; Dufouil, C; Hardy, J; Crane, PK; Eiriksdottir, G; Hannequin, D; Clarke, R; Evans, D; Mosley, TH; Letenneur, L; Brayne, C; Maier, W; De Jager, P; Emilsson, V; Dartigues, JF; Hampel, H; Kamboh, MI; de Bruijn, RF; Tzourio, C; Pastor, P; Larson, EB; Rotter, JI; O'Donovan, MC; Montine, TJ; Nalls, MA; Mead, S; Reiman, EM; Jonsson, PV; Holmes, C; St George-Hyslop, PH; Boada, M; Passmore, P; Wendland, JR; Schmidt, R; Morgan, K; Winslow, AR; Powell, JF; Carasquillo, M; Younkin, SG; Jakobsdóttir, J; Kauwe, JS; Wilhelmsen, KC; Rujescu, D; Nöthen, MM; Hofman, A; Jones, L; IGAP Consortium; Haines, JL; Psaty, BM; Van Broeckhoven, C; Holmans, P; Launer, LJ; Mayeux, R; Lathrop, M; Goate, AM; Escott-Price, V; Seshadri, S; Pericak-Vance, MA; Amouyel, P; Williams, J; van Duijn, CM; Schellenberg, GD; Farrer, LA
A novel Alzheimer disease locus located near the gene encoding tau protein.
Mol Psychiatry. 2016; 21(1):108-117
Doi: 10.1038/mp.2015.23
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Suárez-Calvet, M; Neumann, M; Arzberger, T; Abou-Ajram, C; Funk, E; Hartmann, H; Edbauer, D; Kremmer, E; Göbl, C; Resch, M; Bourgeois, B; Madl, T; Reber, S; Jutzi, D; Ruepp, MD; Mackenzie, IR; Ansorge, O; Dormann, D; Haass, C
Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS.
Acta Neuropathol. 2016; 131(4):587-604
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Eroglu, E; Gottschalk, B; Charoensin, S; Blass, S; Bischof, H; Rost, R; Madreiter-Sokolowski, CT; Pelzmann, B; Bernhart, E; Sattler, W; Hallström, S; Malinski, T; Waldeck-Weiermair, M; Graier, WF; Malli, R
Development of novel FP-based probes for live-cell imaging of nitric oxide dynamics.
Nat Commun. 2016; 7(3):10623-10623
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Nat Commun. 2016; 7(1):10023-10023
Doi: 10.1038/ncomms10023
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Göbl, C; Resch, M; Strickland, M; Hartlmüller, C; Viertler, M; Tjandra, N; Madl, T
Increasing the Chemical-Shift Dispersion of Unstructured Proteins with a Covalent Lanthanide Shift Reagent.
Angew Chem Int Ed Engl. 2016; 55(47):14847-14851
Doi: 10.1002/anie.201607261
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Anderson, CD; Falcone, GJ; Phuah, CL; Radmanesh, F; Brouwers, HB; Battey, TW; Biffi, A; Peloso, GM; Liu, DJ; Ayres, AM; Goldstein, JN; Viswanathan, A; Greenberg, SM; Selim, M; Meschia, JF; Brown, DL; Worrall, BB; Silliman, SL; Tirschwell, DL; Flaherty, ML; Kraft, P; Jagiella, JM; Schmidt, H; Hansen, BM; Jimenez-Conde, J; Giralt-Steinhauer, E; Elosua, R; Cuadrado-Godia, E; Soriano, C; van Nieuwenhuizen, KM; Klijn, CJ; Rannikmae, K; Samarasekera, N; Al-Shahi Salman, R; Sudlow, CL; Deary, IJ; Morotti, A; Pezzini, A; Pera, J; Urbanik, A; Pichler, A; Enzinger, C; Norrving, B; Montaner, J; Fernandez-Cadenas, I; Delgado, P; Roquer, J; Lindgren, A; Slowik, A; Schmidt, R; Kidwell, CS; Kittner, SJ; Waddy, SP; Langefeld, CD; Abecasis, G; Willer, CJ; Kathiresan, S; Woo, D; Rosand, J; Global Lipids Genetics Consortium and International Stroke Genetics Consortium
Genetic variants in CETP increase risk of intracerebral hemorrhage.
Ann Neurol. 2016; 80(5):730-740
Doi: 10.1002/ana.24780
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Baykara, E; Gesierich, B; Adam, R; Tuladhar, AM; Biesbroek, JM; Koek, HL; Ropele, S; Jouvent, E; Alzheimer's Disease Neuroimaging Initiative; Chabriat, H; Ertl-Wagner, B; Ewers, M; Schmidt, R; de Leeuw, FE; Biessels, GJ; Dichgans, M; Duering, M
A Novel Imaging Marker for Small Vessel Disease Based on Skeletonization of White Matter Tracts and Diffusion Histograms.
Ann Neurol. 2016; 80(4):581-592
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Patriarchi, T; Qian, H; Di Biase, V; Malik, ZA; Chowdhury, D; Price, JL; Hammes, EA; Buonarati, OR; Westenbroek, RE; Catterall, WA; Hofmann, F; Xiang, YK; Murphy, GG; Chen, CY; Navedo, MF; Hell, JW
Phosphorylation of Cav1.2 on S1928 uncouples the L-type Ca2+ channel from the β2 adrenergic receptor.
EMBO J. 2016; 35(12):1330-1345
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KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.
Proc Natl Acad Sci U S A. 2016; 113(50):14372-14377
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METACOHORTS Consortium. Electronic address: joanna.wardlaw@ed.ac.uk; METACOHORTS Consortium
METACOHORTS for the study of vascular disease and its contribution to cognitive decline and neurodegeneration: An initiative of the Joint Programme for Neurodegenerative Disease Research.
Alzheimers Dement. 2016; 12(12):1235-1249
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Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623
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Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Acevedo Arozena, A; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; ... Malli, R; ... Sedej, S; ... et al.
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Autophagy. 2016; 12(1): 1-222.
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Social cognition in multiple sclerosis: A systematic review and meta-analysis.
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Freudenberger, P; Petrovic, K; Sen, A; Töglhofer, AM; Fixa, A; Hofer, E; Perl, S; Zweiker, R; Seshadri, S; Schmidt, R; Schmidt, H
Fitness and cognition in the elderly: The Austrian Stroke Prevention Study.
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Jouvent, E; Duchesnay, E; Hadj-Selem, F; De Guio, F; Mangin, JF; Hervé, D; Duering, M; Ropele, S; Schmidt, R; Dichgans, M; Chabriat, H
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CSF neurofilament light: A universal risk biomarker in multiple sclerosis?
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Knoflach, M; Lang, W; Seyfang, L; Fertl, E; Oberndorfer, S; Daniel, G; Seifert-Held, T; Brainin, M; Krebs, S; Matosevic, B; Töll, T; Kiechl, S; Willeit, J; Ferrari, J; Austrian Stroke Unit Collaborators
Predictive value of ABCD2 and ABCD3-I scores in TIA and minor stroke in the stroke unit setting.
Neurology. 2016; 87(9):861-869
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Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).
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Lehmann, M; Gottschalk, B; Puchkov, D; Schmieder, P; Schwagerus, S; Hackenberger, CP; Haucke, V; Schmoranzer, J
Multicolor Caged dSTORM Resolves the Ultrastructure of Synaptic Vesicles in the Brain.
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International Genomics of Alzheimer's Disease Consortium (IGAP)
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Zeka, B; Hastermann, M; Hochmeister, S; Kögl, N; Kaufmann, N; Schanda, K; Mader, S; Misu, T; Rommer, P; Fujihara, K; Illes, Z; Leutmezer, F; Sato, DK; Nakashima, I; Reindl, M; Lassmann, H; Bradl, M
Highly encephalitogenic aquaporin 4-specific T cells and NMO-IgG jointly orchestrate lesion location and tissue damage in the CNS.
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Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.
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Cantó, E; Tintoré, M; Villar, LM; Costa, C; Nurtdinov, R; Álvarez-Cermeño, JC; Arrambide, G; Reverter, F; Deisenhammer, F; Hegen, H; Khademi, M; Olsson, T; Tumani, H; Rodríguez-Martín, E; Piehl, F; Bartos, A; Zimova, D; Kotoucova, J; Kuhle, J; Kappos, L; García-Merino, JA; Sánchez, AJ; Saiz, A; Blanco, Y; Hintzen, R; Jafari, N; Brassat, D; Lauda, F; Roesler, R; Rejdak, K; Papuc, E; de Andrés, C; Rauch, S; Khalil, M; Enzinger, C; Galimberti, D; Scarpini, E; Teunissen, C; Sánchez, A; Rovira, A; Montalban, X; Comabella, M
Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes.
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Jehna, M; Pirpamer, L; Khalil, M; Fuchs, S; Ropele, S; Langkammer, C; Pichler, A; Stulnig, F; Deutschmann, H; Fazekas, F; Enzinger, C
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Mechanical recanalization in basilar artery occlusion: the ENDOSTROKE study.
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Rittchen, S; Boyd, A; Burns, A; Park, J; Fahmy, TM; Metcalfe, S; Williams, A
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EuroInf: a multicenter comparative observational study of apomorphine and levodopa infusion in Parkinson's disease.
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Beitzke, M; Enzinger, C; Wünsch, G; Asslaber, M; Gattringer, T; Fazekas, F
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Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event.
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Genes from a translational analysis support a multifactorial nature of white matter hyperintensities.
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Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
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Doi: 10.1093/brain/awu051
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Duering, M; Gesierich, B; Seiler, S; Pirpamer, L; Gonik, M; Hofer, E; Jouvent, E; Duchesnay, E; Chabriat, H; Ropele, S; Schmidt, R; Dichgans, M
Strategic white matter tracts for processing speed deficits in age-related small vessel disease.
Neurology. 2014; 82(22):1946-1950
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Gnanapavan, S; Hegen, H; Khalil, M; Hemmer, B; Franciotta, D; Hughes, S; Hintzen, R; Jeromin, A; Havrdova, E; Tumani, H; Bertolotto, A; Comabella, M; Frederiksen, J; Álvarez-Cermeño, JC; Villar, L; Galimberti, D; Myhr, KM; Dujmovic, I; Fazekas, F; Ionete, C; Menge, T; Kuhle, J; Keir, G; Deisenhammer, F; Teunissen, C; Giovannoni, G
Guidelines for uniform reporting of body fluid biomarker studies in neurologic disorders.
Neurology. 2014; 83(13):1210-1216
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McArdle, PF; Kittner, SJ; Ay, H; Brown, RD; Meschia, JF; Rundek, T; Wassertheil-Smoller, S; Woo, D; Andsberg, G; Biffi, A; Brenner, DA; Cole, JW; Corriveau, R; de Bakker, PI; Delavaran, H; Dichgans, M; Grewal, RP; Gwinn, K; Huq, M; Jern, C; Jimenez-Conde, J; Jood, K; Kaplan, RC; Katschnig, P; Katsnelson, M; Labovitz, DL; Lemmens, R; Li, L; Lindgren, A; Markus, HS; Peddareddygari, LR; Pedersén, A; Pera, J; Redfors, P; Roquer, J; Rosand, J; Rost, NS; Rothwell, PM; Sacco, RL; Sharma, P; Slowik, A; Sudlow, C; Thijs, V; Tiedt, S; Valenti, R; Worrall, BB; NINDS SiGN Study
Agreement between TOAST and CCS ischemic stroke classification: the NINDS SiGN study.
Neurology. 2014; 83(18):1653-1660
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Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433
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Bernhart, E; Damm, S; Heffeter, P; Wintersperger, A; Asslaber, M; Frank, S; Hammer, A; Strohmaier, H; DeVaney, T; Mrfka, M; Eder, H; Windpassinger, C; Ireson, CR; Mischel, PS; Berger, W; Sattler, W
Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathways.
Neuro Oncol. 2014; 16(7):933-945
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Hutterer, M; Nowosielski, M; Haybaeck, J; Embacher, S; Stockhammer, F; Gotwald, T; Holzner, B; Capper, D; Preusser, M; Marosi, C; Oberndorfer, S; Moik, M; Buchroithner, J; Seiz, M; Tuettenberg, J; Herrlinger, U; Wick, A; Vajkoczy, P; Stockhammer, G
A single-arm phase II Austrian/German multicenter trial on continuous daily sunitinib in primary glioblastoma at first recurrence (SURGE 01-07).
Neuro Oncol. 2014; 16(1):92-102
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Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949
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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
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet. 2014; 23(22):6069-6080
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Kaiser, V; Bauernfeind, G; Kreilinger, A; Kaufmann, T; Kübler, A; Neuper, C; Müller-Putz, GR
Cortical effects of user training in a motor imagery based brain-computer interface measured by fNIRS and EEG.
Neuroimage. 2014; 85 Pt 1(7):432-444
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Etemad, S; Obermair, GJ; Bindreither, D; Benedetti, A; Stanika, R; Di Biase, V; Burtscher, V; Koschak, A; Kofler, R; Geley, S; Wille, A; Lusser, A; Flockerzi, V; Flucher, BE
Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.
J Neurosci. 2014; 34(4):1446-1461
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Folci, A; Mapelli, L; Sassone, J; Prestori, F; D'Angelo, E; Bassani, S; Passafaro, M
Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.
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Lebrun-Julien, F; Bachmann, L; Norrmén, C; Trötzmüller, M; Köfeler, H; Rüegg, MA; Hall, MN; Suter, U
Balanced mTORC1 activity in oligodendrocytes is required for accurate CNS myelination.
J NEUROSCI. 2014; 34(25): 8432-8448.
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Asadollahi, R; Oneda, B; Joset, P; Azzarello-Burri, S; Bartholdi, D; Steindl, K; Vincent, M; Cobilanschi, J; Sticht, H; Baldinger, R; Reissmann, R; Sudholt, I; Thiel, CT; Ekici, AB; Reis, A; Bijlsma, EK; Andrieux, J; Dieux, A; FitzPatrick, D; Ritter, S; Baumer, A; Latal, B; Plecko, B; Jenni, OG; Rauch, A
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet. 2014; 51(10): 677-688.
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Thorwarth, A; Schnittert-Hübener, S; Schrumpf, P; Müller, I; Jyrch, S; Dame, C; Biebermann, H; Kleinau, G; Katchanov, J; Schuelke, M; Ebert, G; Steininger, A; Bönnemann, C; Brockmann, K; Christen, HJ; Crock, P; deZegher, F; Griese, M; Hewitt, J; Ivarsson, S; Hübner, C; Kapelari, K; Plecko, B; Rating, D; Stoeva, I; Ropers, HH; Grüters, A; Ullmann, R; Krude, H
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
J Med Genet. 2014; 51(6): 375-387.
Doi: 10.1136/jmedgenet-2013-102248
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Benedek, M; Jauk, E; Fink, A; Koschutnig, K; Reishofer, G; Ebner, F; Neubauer, AC
To create or to recall? Neural mechanisms underlying the generation of creative new ideas.
Neuroimage. 2014; 88:125-33
Doi: 10.1016/j.neuroimage.2013.11.021
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Li, W; Wu, B; Batrachenko, A; Bancroft-Wu, V; Morey, RA; Shashi, V; Langkammer, C; De Bellis, MD; Ropele, S; Song, AW; Liu, C
Differential developmental trajectories of magnetic susceptibility in human brain gray and white matter over the lifespan.
Hum Brain Mapp. 2014; 35(6):2698-2713
Doi: 10.1002/hbm.22360
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Rocca, MA; Valsasina, P; Hulst, HE; Abdel-Aziz, K; Enzinger, C; Gallo, A; Pareto, D; Riccitelli, G; Muhlert, N; Ciccarelli, O; Barkhof, F; Fazekas, F; Tedeschi, G; Arévalo, MJ; Filippi, M; MAGNIMS fMRI Study Group
Functional correlates of cognitive dysfunction in multiple sclerosis: A multicenter fMRI Study.
Hum Brain Mapp. 2014; 35(12):5799-5814
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Schneider, G; Jordan, D; Schwarz, G; Bischoff, P; Kalkman, CJ; Kuppe, H; Rundshagen, I; Omerovic, A; Kreuzer, M; Stockmanns, G; Kochs, EF; European Multicenter EEGAEP Anesthesia Monitoring Study Group and Research Group Knowledge-based Signal Processing
Monitoring depth of anesthesia utilizing a combination of electroencephalographic and standard measures.
Anesthesiology. 2014; 120(4):819-828
Doi: 10.1097/ALN.0000000000000151
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Ay, H; Arsava, EM; Andsberg, G; Benner, T; Brown, RD; Chapman, SN; Cole, JW; Delavaran, H; Dichgans, M; Engström, G; Giralt-Steinhauer, E; Grewal, RP; Gwinn, K; Jern, C; Jimenez-Conde, J; Jood, K; Katsnelson, M; Kissela, B; Kittner, SJ; Kleindorfer, DO; Labovitz, DL; Lanfranconi, S; Lee, JM; Lehm, M; Lemmens, R; Levi, C; Li, L; Lindgren, A; Markus, HS; McArdle, PF; Melander, O; Norrving, B; Peddareddygari, LR; Pedersén, A; Pera, J; Rannikmäe, K; Rexrode, KM; Rhodes, D; Rich, SS; Roquer, J; Rosand, J; Rothwell, PM; Rundek, T; Sacco, RL; Schmidt, R; Schürks, M; Seiler, S; Sharma, P; Slowik, A; Sudlow, C; Thijs, V; Woodfield, R; Worrall, BB; Meschia, JF
Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.
Stroke. 2014; 45(12):3589-3596
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De Guio, F; Vignaud, A; Ropele, S; Duering, M; Duchesnay, E; Chabriat, H; Jouvent, E
Loss of venous integrity in cerebral small vessel disease: a 7-T MRI study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Stroke. 2014; 45(7):2124-2126
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Gattringer, T; Ferrari, J; Knoflach, M; Seyfang, L; Horner, S; Niederkorn, K; Culea, V; Beitzke, M; Lang, W; Enzinger, C; Fazekas, F
Sex-related differences of acute stroke unit care: results from the Austrian stroke unit registry.
Stroke. 2014; 45(6):1632-1638
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Holliday, EG; Traylor, M; Malik, R; Bevan, S; Maguire, J; Koblar, SA; Sturm, J; Hankey, GJ; Oldmeadow, C; McEvoy, M; Sudlow, C; Rothwell, PM; Coresh, J; Hamet, P; Tremblay, J; Turner, ST; de Andrade, M; Rao, M; Schmidt, R; Crick, PA; Robino, A; Peralta, CA; Jukema, JW; Mitchell, P; Rosas, SE; Wang, JJ; Scott, RJ; Dichgans, M; Mitchell, BD; Kao, WH; Fox, CS; Levi, C; Attia, J; Markus, HS; CKDGen Consortium and the International Stroke Genetics Consortium
Polygenic overlap between kidney function and large artery atherosclerotic stroke.
Stroke. 2014; 45(12):3508-3513
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Ibrahim-Verbaas, CA; Fornage, M; Bis, JC; Choi, SH; Psaty, BM; Meigs, JB; Rao, M; Nalls, M; Fontes, JD; O'Donnell, CJ; Kathiresan, S; Ehret, GB; Fox, CS; Malik, R; Dichgans, M; Schmidt, H; Lahti, J; Heckbert, SR; Lumley, T; Rice, K; Rotter, JI; Taylor, KD; Folsom, AR; Boerwinkle, E; Rosamond, WD; Shahar, E; Gottesman, RF; Koudstaal, PJ; Amin, N; Wieberdink, RG; Dehghan, A; Hofman, A; Uitterlinden, AG; Destefano, AL; Debette, S; Xue, L; Beiser, A; Wolf, PA; Decarli, C; Ikram, MA; Seshadri, S; Mosley, TH; Longstreth, WT; van Duijn, CM; Launer, LJ
Predicting stroke through genetic risk functions: the CHARGE Risk Score Project.
Stroke. 2014; 45(2):403-412
Doi: 10.1161/STROKEAHA.113.003044
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Olivot, JM; Mlynash, M; Inoue, M; Marks, MP; Wheeler, HM; Kemp, S; Straka, M; Zaharchuk, G; Bammer, R; Lansberg, MG; Albers, GW; DEFUSE 2 Investigators
Hypoperfusion intensity ratio predicts infarct progression and functional outcome in the DEFUSE 2 Cohort.
Stroke. 2014; 45(4): 1018-1023.
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Batla, A; Erro, R; Stamelou, M; Schneider, SA; Schwingenschuh, P; Ganos, C; Bhatia, KP
Patients with scans without evidence of dopaminergic deficit: a long-term follow-up study.
Mov Disord. 2014; 29(14):1820-1825
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Fink, A; Koschutnig, K; Hutterer, L; Steiner, E; Benedek, M; Weber, B; Reishofer, G; Papousek, I; Weiss, EM
Gray matter density in relation to different facets of verbal creativity.
Brain Struct Funct. 2014; 219(4):1263-1269
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Kapfhammer, HP; Reininghaus, EZ; Fitz, W; Lange, P
Clinical course of illness in women with early onset puerperal psychosis: a 12-year follow-up study.
J Clin Psychiatry. 2014; 75(10):1096-1104
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Löffler, T; Flunkert, S; Havas, D; Schweinzer, C; Uger, M; Windisch, M; Steyrer, E; Hutter-Paier, B
Neuroinflammation and related neuropathologies in APPSL mice: further value of this in vivo model of Alzheimer's disease.
J Neuroinflammation. 2014; 11(7):84-84
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Xiong, Y; Wong, A; Cavalieri, M; Schmidt, R; Chu, WW; Liu, X; Wong, KS; Mok, V
Prestroke statins, progression of white matter hyperintensities, and cognitive decline in stroke patients with confluent white matter hyperintensities.
Neurotherapeutics. 2014; 11(3):606-611
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Zhang, Q; Chibalina, MV; Bengtsson, M; Groschner, LN; Ramracheya, R; Rorsman, NJ; Leiss, V; Nassar, MA; Welling, A; Gribble, FM; Reimann, F; Hofmann, F; Wood, JN; Ashcroft, FM; Rorsman, P
Na+ current properties in islet α- and β-cells reflect cell-specific Scn3a and Scn9a expression.
J Physiol. 2014; 592(21): 4677-96.
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Linortner, P; Jehna, M; Johansen-Berg, H; Matthews, PM; Schmidt, R; Fazekas, F; Enzinger, C
Aging associated changes in the motor control of ankle movements in the brain.
Neurobiol Aging. 2014; 35(10):2222-2229
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Painold, A; Faber, PL; Milz, P; Reininghaus, EZ; Holl, AK; Letmaier, M; Pascual-Marqui, RD; Reininghaus, B; Kapfhammer, HP; Lehmann, D
Brain electrical source imaging in manic and depressive episodes of bipolar disorder.
Bipolar Disord. 2014; 16(7):690-702
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Reininghaus, EZ; McIntyre, RS; Reininghaus, B; Geisler, S; Bengesser, SA; Lackner, N; Hecht, K; Birner, A; Kattnig, F; Unterweger, R; Kapfhammer, HP; Zelzer, S; Fuchs, D; Mangge, H
Tryptophan breakdown is increased in euthymic overweight individuals with bipolar disorder: a preliminary report.
Bipolar Disord. 2014; 16(4):432-440
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Topakian, R; Pischinger, B; Stieglbauer, K; Pichler, R
Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.
Cephalalgia. 2014; 34(5):392-396
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Holzer, P; Izzo, AA
The pharmacology of TRP channels.
BRIT J PHARMACOL. 2014; 171(10): 2469-2473.
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Woehrer, A; Hackl, M; Waldhör, T; Weis, S; Pichler, J; Olschowski, A; Buchroithner, J; Maier, H; Stockhammer, G; Thomé, C; Haybaeck, J; Payer, F; von Campe, G; Kiefer, A; Würtz, F; Vince, GH; Sedivy, R; Oberndorfer, S; Marhold, F; Bordihn, K; Stiglbauer, W; Gruber-Mösenbacher, U; Bauer, R; Feichtinger, J; Reiner-Concin, A; Grisold, W; Marosi, C; Preusser, M; Dieckmann, K; Slavc, I; Gatterbauer, B; Widhalm, G; Haberler, C; Hainfellner, JA; Austrian Brain Tumour Registry
Relative survival of patients with non-malignant central nervous system tumours: a descriptive study by the Austrian Brain Tumour Registry.
Br J Cancer. 2014; 110(2):286-296
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Hegen, H; Millonig, A; Bertolotto, A; Comabella, M; Giovanonni, G; Guger, M; Hoelzl, M; Khalil, M; Killestein, J; Lindberg, R; Malucchi, S; Mehling, M; Montalban, X; Polman, CH; Rudzki, D; Schautzer, F; Sellebjerg, F; Sørensen, PS; Deisenhammer, F
Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development.
Mult Scler. 2014; 20(5):577-587
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Khalil, M; Riedlbauer, B; Langkammer, C; Enzinger, C; Ropele, S; Stojakovic, T; Scharnagl, H; Culea, V; Petzold, A; Teunissen, C; Archelos, JJ; Fuchs, S; Fazekas, F
Cerebrospinal fluid transferrin levels are reduced in patients with early multiple sclerosis.
Mult Scler. 2014; 20(12):1569-1577
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Miller, DH; Fazekas, F; Montalban, X; Reingold, SC; Trojano, M
Pregnancy, sex and hormonal factors in multiple sclerosis.
MULT SCLER J. 2014; 20(5): 527-536.
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Mitjana, R; Tintoré, M; Rocca, MA; Auger, C; Barkhof, F; Filippi, M; Polman, C; Fazekas, F; Huerga, E; Montalban, X; Rovira, A
Diagnostic value of brain chronic black holes on T1-weighted MR images in clinically isolated syndromes.
Mult Scler. 2014; 20(11):1471-1477
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Reinthaler, E; Machetanz, G; Hotzy, C; Reindl, M; Fazekas, F; Kristoferitsch, W; Berger, T; Schmied, C; Zimprich, A
No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.
MULT SCLER J. 2014; 20(3): 391-392.
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Robier, C; Amouzadeh-Ghadikolai, O; Bregant, C; Diez, J; Melinz, K; Neubauer, M; Quasthoff, S
The anti-VLA-4 antibody natalizumab induces erythroblastaemia in the majority of the treated patients with multiple sclerosis.
Mult Scler. 2014; 20(9):1269-1272
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Ropele, S; Kilsdonk, ID; Wattjes, MP; Langkammer, C; de Graaf, WL; Frederiksen, JL; Larsson, HB; Yiannakas, M; Wheeler-Kingshott, CA; Enzinger, C; Khalil, M; Rocca, MA; Sprenger, T; Amann, M; Kappos, L; Filippi, M; Rovira, A; Ciccarelli, O; Barkhof, F; Fazekas, F
Determinants of iron accumulation in deep grey matter of multiple sclerosis patients.
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Chirackal Manavalan, AP; Kober, A; Metso, J; Lang, I; Becker, T; Hasslitzer, K; Zandl, M; Fanaee-Danesh, E; Pippal, JB; Sachdev, V; Kratky, D; Stefulj, J; Jauhiainen, M; Panzenboeck, U
Phospholipid transfer protein is expressed in cerebrovascular endothelial cells and involved in high density lipoprotein biogenesis and remodeling at the blood-brain barrier.
J Biol Chem. 2014; 289(8):4683-4698
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Sen, A; Marsche, G; Freudenberger, P; Schallert, M; Toeglhofer, AM; Nagl, C; Schmidt, R; Launer, LJ; Schmidt, H
Association between higher plasma lutein, zeaxanthin, and vitamin C concentrations and longer telomere length: results of the Austrian Stroke Prevention Study.
J Am Geriatr Soc. 2014; 62(2):222-229
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Bertrand, AT; Bönnemann, CG; Bonne, G; FHL1 myopathy consortium
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Using static and dynamic canonical correlation coefficients as quantitative EEG markers for Alzheimer's disease severity.
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GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
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Common variants at 6q22 and 17q21 are associated with intracranial volume.
Nat Genet. 2013; 45(6): 713-713.
Doi: 10.1038/ng0613-713c
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
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European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease; Alzheimer's Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nat Genet. 2013; 45(9):1067-1072
Doi: 10.1038/ng.2728
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Common variants at 12q15 and 12q24 are associated with infant head circumference.
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Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration
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Role of KATP channels in glucose-regulated glucagon secretion and impaired counterregulation in type 2 diabetes.
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Gupta, VK; Scheunemann, L; Eisenberg, T; Mertel, S; Bhukel, A; Koemans, TS; Kramer, JM; Liu, KS; Schroeder, S; Stunnenberg, HG; Sinner, F; Magnes, C; Pieber, TR; Dipt, S; Fiala, A; Schenck, A; Schwaerzel, M; Madeo, F; Sigrist, SJ
Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner.
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Jokinen, H; Schmidt, R; Ropele, S; Fazekas, F; Gouw, AA; Barkhof, F; Scheltens, P; Madureira, S; Verdelho, A; Ferro, JM; Wallin, A; Poggesi, A; Inzitari, D; Pantoni, L; Erkinjuntti, T; LADIS Study Group
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Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
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Incident lacunes preferentially localize to the edge of white matter hyperintensities: insights into the pathophysiology of cerebral small vessel disease.
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
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Common variants in Mendelian kidney disease genes and their association with renal function.
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Büttner, S; Faes, L; Reichelt, WN; Broeskamp, F; Habernig, L; Benke, S; Kourtis, N; Ruli, D; Carmona-Gutierrez, D; Eisenberg, T; D'hooge, P; Ghillebert, R; Franssens, V; Harger, A; Pieber, TR; Freudenberger, P; Kroemer, G; Sigrist, SJ; Winderickx, J; Callewaert, G; Tavernarakis, N; Madeo, F
The Ca2+/Mn2+ ion-pump PMR1 links elevation of cytosolic Ca(2+) levels to α-synuclein toxicity in Parkinson's disease models.
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Fazekas, F; Enzinger, C; Schmidt, R; Dichgans, M; Gaertner, B; Jungehulsing, GJ; Hennerici, MG; Heuschmann, P; Holzhausen, M; Kaps, M; Kessler, C; Martus, P; Putaala, J; Ropele, S; Tanislav, C; Tatlisumak, T; Norrving, B; Rolfs, A; sifap1 Investigators
MRI in acute cerebral ischemia of the young: the Stroke in Young Fabry Patients (sifap1) Study.
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Location of brain lesions predicts conversion of clinically isolated syndromes to multiple sclerosis.
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Cerebellar learning distinguishes inflammatory neuropathy with and without tremor.
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von Sarnowski, B; Schminke, U; Tatlisumak, T; Putaala, J; Grittner, U; Kaps, M; Tobin, WO; Kinsella, JA; McCabe, DJ; Hennerici, MG; Fazekas, F; Norrving, B; Kessler, C; Rolfs, A; sifap1 investigators
Prevalence of stenoses and occlusions of brain-supplying arteries in young stroke patients.
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Heritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage.
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Hankey, GJ; Ford, AH; Yi, Q; Eikelboom, JW; Lees, KR; Chen, C; Xavier, D; Navarro, JC; Ranawaka, UK; Uddin, W; Ricci, S; Gommans, J; Schmidt, R; Almeida, OP; van Bockxmeer, FM; on Behalf of the VITATOPS Trial Study Group
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How does fingolimod (gilenya(®)) fit in the treatment algorithm for highly active relapsing-remitting multiple sclerosis?
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Experimental data suggesting that inflammation mediated rat liver mitochondrial dysfunction results from secondary hypoxia rather than from direct effects of inflammatory mediators.
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Common variants at 12q14 and 12q24 are associated with hippocampal volume.
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Common variants at 6q22 and 17q21 are associated with intracranial volume.
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Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
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Common variants at 12q15 and 12q24 are associated with infant head circumference.
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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
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Association between pathological and MRI findings in multiple sclerosis.
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Antiplatelet therapy and the effects of B vitamins in patients with previous stroke or transient ischaemic attack: a post-hoc subanalysis of VITATOPS, a randomised, placebo-controlled trial.
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Mok, V; Xiong, Y; Wong, KK; Wong, A; Schmidt, R; Chu, WW; Hu, X; Lung Leung, EY; Chen, S; Chen, Y; Tang, WK; Chen, X; Ho, CL; Wong, KS; Wong, ST
Predictors for cognitive decline in patients with confluent white matter hyperintensities.
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Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V.
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Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
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Genome-wide association and functional follow-up reveals new loci for kidney function.
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Enzinger, C; Deluca, J
Large-scale neuronal network dysfunction in multiple sclerosis?: Evidence from resting-state fMRI.
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Brain atrophy accelerates cognitive decline in cerebral small vessel disease: The LADIS study.
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Teaching NeuroImages: Dorsal midbrain (Parinaud) syndrome with corectopia.
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Differences in integrity of white matter and changes with training in spelling impaired children: a diffusion tensor imaging study.
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Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Hum Mol Genet. 2012; 21(24):5329-5343
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Gattringer, T; Enzinger, C; Birner, A; Wunsch, G; Niederkorn, K; Walch, C; Fazekas, F;
Acute Unilateral Hearing Loss as an Early Symptom of Lateral Cerebral Sinus Venous Thrombosis.
ARCH NEUROL. 2012; 69(11): 1508-1511.
Doi: 10.1001/archneurol.2012.346
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Falsone, SF; Meyer, NH; Schrank, E; Leitinger, G; Pham, CL; Fodero-Tavoletti, MT; Holmberg, M; Dulle, M; Scicluna, B; Gesslbauer, B; Rückert, HM; Wagner, GE; Merle, DA; Nollen, EA; Kungl, AJ; Hill, AF; Cappai, R; Zangger, K
SERF protein is a direct modifier of amyloid fiber assembly.
Cell Rep. 2012; 2(2):358-371
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Fairless, R; Williams, SK; Hoffmann, DB; Stojic, A; Hochmeister, S; Schmitz, F; Storch, MK; Diem, R
Preclinical retinal neurodegeneration in a model of multiple sclerosis.
J Neurosci. 2012; 32(16): 5585-5597.
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Fink, A; Koschutnig, K; Benedek, M; Reishofer, G; Ischebeck, A; Weiss, EM; Ebner, F
Stimulating creativity via the exposure to other people's ideas.
Hum Brain Mapp. 2012; 33(11):2603-2610
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Langkammer, C; Krebs, N; Goessler, W; Scheurer, E; Yen, K; Fazekas, F; Ropele, S
Susceptibility induced gray-white matter MRI contrast in the human brain.
Neuroimage. 2012; 59(2): 1413-1419.
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Langkammer, C; Schweser, F; Krebs, N; Deistung, A; Goessler, W; Scheurer, E; Sommer, K; Reishofer, G; Yen, K; Fazekas, F; Ropele, S; Reichenbach, JR
Quantitative susceptibility mapping (QSM) as a means to measure brain iron? A post mortem validation study.
Neuroimage. 2012; 62(3):1593-1599
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Rostrup, E; Gouw, AA; Vrenken, H; van Straaten, EC; Ropele, S; Pantoni, L; Inzitari, D; Barkhof, F; Waldemar, G; LADIS study group
The spatial distribution of age-related white matter changes as a function of vascular risk factors--results from the LADIS study.
Neuroimage. 2012; 60(3):1597-1607
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Barral, S; Fernández-Cadenas, I; Bis, JC; Montaner, J; Ikram, AM; Launer, LJ; Fornage, M; Schmidt, H; Brickman, AM; Seshadri, S; Mayeux, R
No association of ALOX5AP polymorphisms with risk of MRI-defined brain infarcts.
Neurobiol Aging. 2012; 33(3):629.e1-629.e3
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Linortner, P; Fazekas, F; Schmidt, R; Ropele, S; Pendl, B; Petrovic, K; Loitfelder, M; Neuper, C; Enzinger, C
White matter hyperintensities alter functional organization of the motor system.
NEUROBIOL AGING. 2012; 33(1): 197.e1-197.e9.
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Cavalieri, M; Schmidt, R; Chen, C; Mok, V; de Freitas, GR; Song, S; Yi, Q; Ropele, S; Grazer, A; Homayoon, N; Enzinger, C; Loh, K; Wong, KS; Wong, A; Xiong, Y; Chang, HM; Wong, MC; Fazekas, F; Eikelboom, JW; Hankey, GJ; VITATOPS Trial Study Group
B vitamins and magnetic resonance imaging-detected ischemic brain lesions in patients with recent transient ischemic attack or stroke: the VITAmins TO Prevent Stroke (VITATOPS) MRI-substudy.
Stroke. 2012; 43(12):3266-3270
Doi: 10.1161/STROKEAHA.112.665703
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Cheng, YC; Anderson, CD; Bione, S; Keene, K; Maguire, JM; Nalls, M; Rasheed, A; Zeginigg, M; Attia, J; Baker, R; Barlera, S; Biffi, A; Bookman, E; Brott, TG; Brown, RD; Chen, F; Chen, WM; Ciusani, E; Cole, JW; Cortellini, L; Danesh, J; Doheny, K; Ferrucci, L; Grazia Franzosi, M; Frossard, P; Furie, KL; Golledge, J; Hankey, GJ; Hernandez, D; Holliday, EG; Hsu, FC; Jannes, J; Kamal, A; Khan, MS; Kittner, SJ; Koblar, SA; Lewis, M; Lincz, L; Lisa, A; Matarin, M;Moscato, P;Mychaleckyj, JC;Parati, EA;Parolo, S;Pugh, E;Rost, NS;Schallert, M;Schmidt, H;Scott, RJ;Sturm, JW;Yadav, S;Zaidi, M;Boncoraglio, GB;Levi, CR;Meschia, JF;Rosand, J;Sale, M;Saleheen, D;Schmidt, R;Sharma, P;Worrall, B;Mitchell, BD;GARNET Collaborative Research Group;GENEVA Consortium;InternationalStrokeGeneticsConsortium
Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?
Stroke. 2012; 43(4): 980-986.
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Falcone, GJ; Biffi, A; Devan, WJ; Jagiella, JM; Schmidt, H; Kissela, B; Hansen, BM; Jimenez-Conde, J; Giralt-Steinhauer, E; Elosua, R; Cuadrado-Godia, E; Soriano, C; Ayres, AM; Schwab, K; Pera, J; Urbanik, A; Rost, NS; Goldstein, JN; Viswanathan, A; Pichler, A; Enzinger, C; Norrving, B; Tirschwell, DL; Selim, M; Brown, DL; Silliman, SL; Worrall, BB; Meschia, JF; Kidwell, CS; Montaner, J; Fernandez-Cadenas, I; Delgado, P; Broderick, JP; Greenberg, SM; Roquer, J; Lindgren, A; Slowik, A; Schmidt, R; Flaherty, ML; Kleindorfer, DO; Langefeld, CD; Woo, D; Rosand, J; on behalf of the International Stroke Genetics Consortium
Burden of Risk Alleles for Hypertension Increases Risk of Intracerebral Hemorrhage.
Stroke. 2012; 43(11):2877-2883
Doi: 10.1161/STROKEAHA.112.659755
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Hankey, GJ; Eikelboom, JW; Yi, Q; Lees, KR; Chen, C; Xavier, D; Navarro, JC; Ranawaka, UK; Uddin, W; Ricci, S; Gommans, J; Schmidt, R; on behalf of the VITAmins TO Prevent Stroke (VITATOPS) Trial Study Group
Treatment With B Vitamins and Incidence of Cancer in Patients With Previous Stroke or Transient Ischemic Attack: Results of a Randomized Placebo-Controlled Trial.
Stroke. 2012; 43(6):1572-1577
Doi: 10.1161/STROKEAHA.111.641613
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Schmidt, R; Berghold, A; Jokinen, H; Gouw, AA; van der Flier, WM; Barkhof, F; Scheltens, P; Petrovic, K; Madureira, S; Verdelho, A; Ferro, JM; Waldemar, G; Wallin, A; Wahlund, LO; Poggesi, A; Pantoni, L; Inzitari, D; Fazekas, F; Erkinjuntti, T; on behalf of the LADIS Study Group
White Matter Lesion Progression in LADIS: Frequency, Clinical Effects, and Sample Size Calculations.
Stroke. 2012; 43(10):2643-2647
Doi: 10.1161/STROKEAHA.112.662593
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Steinicke, R; Gaertner, B; Grittner, U; Schmidt, W; Dichgans, M; Heuschmann, PU; Tanislav, C; Putaala, J; Kaps, M; Endres, M; Schmidt, R; Fazekas, F; Norrving, B; Rolfs, A; Martus, P; Tatlisumak, T; Enzinger, C; Jungehulsing, GJ
Kidney Function and White Matter Disease in Young Stroke Patients: Analysis of the Stroke in Young Fabry Patients Study Population.
Stroke. 2012; 43(9):2382-2388
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Verdelho, A; Madureira, S; Ferro, JM; Baezner, H; Blahak, C; Poggesi, A; Hennerici, M; Pantoni, L; Fazekas, F; Scheltens, P; Waldemar, G; Wallin, A; Erkinjuntti, T; Inzitari, D; LADIS Study
Physical activity prevents progression for cognitive impairment and vascular dementia: results from the LADIS (Leukoaraiosis and Disability) study.
Stroke. 2012; 43(12):3331-3335
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Haack, TB; Haberberger, B; Frisch, EM; Wieland, T; Iuso, A; Gorza, M; Strecker, V; Graf, E; Mayr, JA; Herberg, U; Hennermann, JB; Klopstock, T; Kuhn, KA; Ahting, U; Sperl, W; Wilichowski, E; Hoffmann, GF; Tesarova, M; Hansikova, H; Zeman, J; Plecko, B; Zeviani, M; Wittig, I; Strom, TM; Schuelke, M; Freisinger, P; Meitinger, T; Prokisch, H
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
J Med Genet. 2012; 49(4): 277-283.
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Letmaier, M; Painold, A; Holl, AK; Vergin, H; Engel, R; Konstantinidis, A; Kasper, S; Grohmann, R
Hyponatraemia during psychopharmacological treatment: results of a drug surveillance programme.
Int J Neuropsychopharmacol. 2012; 15(6):739-748
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Boltz, A; Ruiâ, M; Jonas, JB; Tao, Y; Rensch, F; Weger, M; Garhöfer, G; Frantal, S; El-Shabrawi, Y; Schmetterer, L
Role of Vascular Endothelial Growth Factor Polymorphisms in the Treatment Success in Patients with Wet Age-related Macular Degeneration.
Ophthalmology. 2012; 119(8):1615-1620
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Alcalde-Cabero, E; Almazan-Isla, J; Brandel, JP; Breithaupt, M; Catarino, J; Collins, S; Hayback, J; Hoftberger, R; Kahana, E; Kovacs, GG; Ladogana, A; Mitrova, E; Molesworth, A; Nakamura, Y; Pocchiari, M; Popovic, M; Ruiz-Tovar, M; Taratuto, A; van Duijn, C; Yamada, M; Will, RG; Zerr, I; de Pedro Cuesta, J
Health professions and risk of sporadic Creutzfeldt-Jakob disease, 1965 to 2010.
Euro Surveill. 2012; 17(15):
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Reintam Blaser, A; Malbrain, ML; Starkopf, J; Fruhwald, S; Jakob, SM; De Waele, J; Braun, JP; Poeze, M; Spies, C
Gastrointestinal function in intensive care patients: terminology, definitions and management. Recommendations of the ESICM Working Group on Abdominal Problems.
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Klein, A; Lillis, S; Munteanu, I; Scoto, M; Zhou, H; Quinlivan, R; Straub, V; Manzur, AY; Roper, H; Jeannet, PY; Rakowicz, W; Jones, DH; Jensen, UB; Wraige, E; Trump, N; Schara, U; Lochmuller, H; Sarkozy, A; Kingston, H; Norwood, F; Damian, M; Kirschner, J; Longman, C; Roberts, M; Auer-Grumbach, M; Hughes, I; Bushby, K; Sewry, C; Robb, S; Abbs, S; Jungbluth, H; Muntoni, F
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
HUM MUTAT. 2012; 33(6): 981-988.
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Hochmeister, S; Romauch, M; Bauer, J; Seifert-Held, T; Weissert, R; Linington, C; Hartung, HP; Fazekas, F; Storch, MK
Re-expression of N-Cadherin in remyelinating lesions of experimental inflammatory demyelination.
Exp Neurol. 2012; 237(1):70-77
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Stockner, H; Schwingenschuh, P; Djamshidian, A; Silveira-Moriyama, L; Katschnig, P; Seppi, K; Dickson, J; Edwards, MJ; Lees, AJ; Poewe, W; Bhatia, KP;
Is transcranial sonography useful to distinguish scans without evidence of dopaminergic deficit patients from Parkinson's disease?.
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Teunissen, CE; Khalil, M
Neurofilaments as biomarkers in multiple sclerosis.
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Quarrell, OW; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, GB; European Huntingtonâs Disease Network
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Eur J Hum Genet. 2012; 20(1): 20-26.
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Bornemann-Cimenti, H; Lederer, AJ; Wejbora, M; Michaeli, K; Kern-Pirsch, C; Archan, S; Rumpold-Seitlinger, G; Zigeuner, R; Sandner-Kiesling, A
Preoperative pregabalin administration significantly reduces postoperative opioid consumption and mechanical hyperalgesia after transperitoneal nephrectomy.
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Dahaba, AA; Bornemann, H; Hopfgartner, E; Ohran, M; Kocher, K; Liebmann, M; Wilfinger, G; Metzler, H
Effect of sugammadex or neostigmine neuromuscular block reversal on bispectral index monitoring of propofol/remifentanil anaesthesia.
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Leonardis, L; Auer-Grumbach, M; Papić, L; Zidar, J
The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
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Ragginer, C; Lechner, A; Bernecker, C; Horejsi, R; Möller, R; Wallner-Blazek, M; Weiss, S; Fazekas, F; Schmidt, R; Truschnig-Wilders, M; Gruber, HJ
Reduced urinary glutamate levels are associated with the frequency of migraine attacks in females.
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Sorbi, S; Hort, J; Erkinjuntti, T; Fladby, T; Gainotti, G; Gurvit, H; Nacmias, B; Pasquier, F; Popescu, BO; Rektorova, I; Religa, D; Rusina, R; Rossor, M; Schmidt, R; Stefanova, E; Warren, JD; Scheltens, P; EFNS Scientist Panel on Dementia and Cognitive Neurology
EFNS-ENS Guidelines on the diagnosis and management of disorders associated with dementia.
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Birner-Gruenberger, R; Darnhofer, B; Chen, WQ; Monje, FJ; Lubec, G
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Monje, FJ; Birner-Gruenberger, R; Darnhofer, B; Divisch, I; Pollak, DD; Lubec, G
Proteomics reveals selective regulation of proteins in response to memory-related serotonin stimulation in Aplysia californica ganglia.
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Schmidt, H; Freudenberger, P; Seiler, S; Schmidt, R
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Gemes, G; Oyster, KD; Pan, B; Wu, HE; Bangaru, ML; Tang, Q; Hogan, QH
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Adzemovic, MZ; Ockinger, J; Zeitelhofer, M; Hochmeister, S; Beyeen, AD; Paulson, A; Gillett, A; Hedreul, MT; Covacu, R; Lassmann, H; Olsson, T; Jagodic, M
Expression of Ccl11 Associates with Immune Response Modulation and Protection against Neuroinflammation in Rats.
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Gebauer, D; Fink, A; Kargl, R; Reishofer, G; Koschutnig, K; Purgstaller, C; Fazekas, F; Enzinger, C
Differences in brain function and changes with intervention in children with poor spelling and reading abilities.
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Kahan, J; Mancini, L; Urner, M; Friston, K; Hariz, M; Holl, E; White, M; Ruge, D; Jahanshahi, M; Boertien, T; Yousry, T; Thornton, JS; Limousin, P; Zrinzo, L; Foltynie, T
Therapeutic subthalamic nucleus deep brain stimulation reverses cortico-thalamic coupling during voluntary movements in Parkinson's disease.
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Lipp, I; Benedek, M; Fink, A; Koschutnig, K; Reishofer, G; Bergner, S; Ischebeck, A; Ebner, F; Neubauer, A
Investigating neural efficiency in the visuo-spatial domain: an FMRI study.
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Loitfelder, M; Filippi, M; Rocca, M; Valsasina, P; Ropele, S; Jehna, M; Fuchs, S; Schmidt, R; Neuper, C; Fazekas, F; Enzinger, C
Abnormalities of resting state functional connectivity are related to sustained attention deficits in MS.
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Reishofer, G; Koschutnig, K; Enzinger, C; Ebner, F; Ahammer, H
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Seiler, S; Schmidt, H; Lechner, A; Benke, T; Sanin, G; Ransmayr, G; Lehner, R; Dal-Bianco, P; Santer, P; Linortner, P; Eggers, C; Haider, B; Uranues, M; Marksteiner, J; Leblhuber, F; Kapeller, P; Bancher, C; Schmidt, R; PRODEM Study Group
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Leitinger, G; Masich, S; Neumüller, J; Pabst, MA; Pavelka, M; Rind, FC; Shupliakov, O; Simmons, PJ; Kolb, D
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Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M
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Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
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