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Daniah Trabzuni
Daniah Trabzuni
Senior research fellow
Dirección de correo verificada de ucl.ac.uk - Página principal
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
49742011
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
19382019
Common genetic variants influence human subcortical brain structures
DP Hibar, JL Stein, ME Renteria, A Arias-Vasquez, S Desrivières, ...
Nature 520 (7546), 224-229, 2015
8962015
Identification of common variants associated with human hippocampal and intracranial volumes
JL Stein, SE Medland, AA Vasquez, DP Hibar, RE Senstad, AM Winkler, ...
Nature genetics 44 (5), 552-561, 2012
7272012
Genetic variability in the regulation of gene expression in ten regions of the human brain
A Ramasamy, D Trabzuni, S Guelfi, V Varghese, C Smith, R Walker, T De, ...
Nature neuroscience 17 (10), 1418-1428, 2014
7142014
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
PM Thompson, JL Stein, SE Medland, DP Hibar, AA Vasquez, ...
Brain imaging and behavior 8, 153-182, 2014
7122014
The transcriptional landscape of age in human peripheral blood
MJ Peters, R Joehanes, LC Pilling, C Schurmann, KN Conneely, J Powell, ...
Nature communications 6 (1), 8570, 2015
6792015
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ...
Nature 505 (7484), 550-554, 2014
5432014
Genome-wide meta-analysis identifies new susceptibility loci for migraine
V Anttila, BS Winsvold, P Gormley, T Kurth, F Bettella, G McMahon, ...
Nature genetics 45 (8), 912-917, 2013
4872013
Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ...
The American Journal of Human Genetics 98 (3), 500-513, 2016
4452016
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ...
Brain 140 (12), 3191-3203, 2017
4252017
Genome-wide association study of obsessive-compulsive disorder
SE Stewart, D Yu, JM Scharf, BM Neale, JA Fagerness, CA Mathews, ...
Molecular psychiatry 18 (7), 788-798, 2013
4222013
Major shifts in glial regional identity are a transcriptional hallmark of human brain aging
L Soreq, J Rose, E Soreq, J Hardy, D Trabzuni, MR Cookson, C Smith, ...
Cell reports 18 (2), 557-570, 2017
4152017
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ...
Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014
3892014
Novel genetic loci associated with hippocampal volume
DP Hibar, HHH Adams, N Jahanshad, G Chauhan, JL Stein, E Hofer, ...
Nature communications 8 (1), 13624, 2017
3272017
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
S Al-Mahdawi, RM Pinto, O Ismail, D Varshney, S Lymperi, C Sandi, ...
Human molecular genetics 17 (5), 735-746, 2008
3232008
Widespread sex differences in gene expression and splicing in the adult human brain
D Trabzuni, A Ramasamy, S Imran, R Walker, C Smith, ME Weale, ...
Nature communications 4 (1), 2771, 2013
3112013
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
G Charlesworth, V Plagnol, KM Holmström, J Bras, UM Sheerin, E Preza, ...
The American Journal of Human Genetics 91 (6), 1041-1050, 2012
3002012
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
D Trabzuni, S Wray, J Vandrovcova, A Ramasamy, R Walker, C Smith, ...
Human molecular genetics 21 (18), 4094-4103, 2012
2832012
Novel genetic loci underlying human intracranial volume identified through genome-wide association
HHH Adams, DP Hibar, V Chouraki, JL Stein, PA Nyquist, ME Rentería, ...
Nature neuroscience 19 (12), 1569-1582, 2016
2612016
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