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Genetic variability in the regulation of gene expression in ten regions of the human brain
Genetic variability in the regulation of gene expression in ten regions of the human brain
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Genetic variability in the regulation of gene expression in ten regions of the human brain

Ramasamy, Adaikalavan ; Trabzuni, Daniah ; Guelfi, Sebastian ; Varghese, Vibin ; Smith, Colin ; Walker, Robert ; De, Tisham ; Coin, Lachlan ; de Silva, Rohan ; Cookson, Mark R ; Singleton, Andrew B ; Hardy, John ; Ryten, Mina ; Weale, Michael E

Nature neuroscience, 2014-10, Vol.17 (10), p.1418-1428 [Periódico revisado por pares]

United States: Nature Publishing Group

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Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging
Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging
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Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

Soreq, Lilach ; Rose, Jamie ; Soreq, Eyal ; Hardy, John ; Trabzuni, Daniah ; Cookson, Mark R. ; Smith, Colin ; Ryten, Mina ; Patani, Rickie ; Ule, Jernej

Cell reports (Cambridge), 2017-01, Vol.18 (2), p.557-570 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Widespread sex differences in gene expression and splicing in the adult human brain
Widespread sex differences in gene expression and splicing in the adult human brain
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Widespread sex differences in gene expression and splicing in the adult human brain

Trabzuni, Daniah ; Ramasamy, Adaikalavan ; Imran, Sabaena ; Walker, Robert ; Smith, Colin ; Weale, Michael E ; Hardy, John ; Ryten, Mina

Nature communications, 2013-11, Vol.4 (1), p.2771-2771, Article 2771 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
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Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

Trabzuni, Daniah ; Ryten, Mina ; Walker, Robert ; Smith, Colin ; Imran, Sabaena ; Ramasamy, Adaikalavan ; Weale, Michael E. ; Hardy, John

Journal of neurochemistry, 2011-10, Vol.119 (2), p.275-282 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
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Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Charlesworth, Gavin ; Plagnol, Vincent ; Holmström, Kira M. ; Bras, Jose ; Sheerin, Una-Marie ; Preza, Elisavet ; Rubio-Agusti, Ignacio ; Ryten, Mina ; Schneider, Susanne A. ; Stamelou, Maria ; Trabzuni, Daniah ; Abramov, Andrey Y. ; Bhatia, Kailash P. ; Wood, Nicholas W.

American journal of human genetics, 2012-12, Vol.91 (6), p.1041-1050 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
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Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset

Sng, Letitia M F ; Thomson, Peter C ; Trabzuni, Daniah

Scientific reports, 2019-12, Vol.9 (1), p.19201-19201, Article 19201 [Periódico revisado por pares]

England: Nature Publishing Group

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7
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

TRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena G

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
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Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

Charlesworth, Gavin ; Angelova, Plamena R. ; Bartolomé-Robledo, Fernando ; Ryten, Mina ; Trabzuni, Daniah ; Stamelou, Maria ; Abramov, Andrey Y. ; Bhatia, Kailash P. ; Wood, Nicholas W.

American journal of human genetics, 2015-04, Vol.96 (4), p.657-665 [Periódico revisado por pares]

United States: Elsevier Inc

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9
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Mencacci, Niccolo E. ; Rubio-Agusti, Ignacio ; Zdebik, Anselm ; Asmus, Friedrich ; Ludtmann, Marthe H.R. ; Ryten, Mina ; Plagnol, Vincent ; Hauser, Ann-Kathrin ; Bandres-Ciga, Sara ; Bettencourt, Conceição ; Forabosco, Paola ; Hughes, Deborah ; Soutar, Marc M.P. ; Peall, Kathryn ; Morris, Huw R. ; Trabzuni, Daniah ; Tekman, Mehmet ; Stanescu, Horia C. ; Kleta, Robert ; Carecchio, Miryam ; Zorzi, Giovanna ; Nardocci, Nardo ; Garavaglia, Barbara ; Lohmann, Ebba ; Weissbach, Anne ; Klein, Christine ; Hardy, John ; Pittman, Alan M. ; Foltynie, Thomas ; Abramov, Andrey Y. ; Gasser, Thomas ; Bhatia, Kailash P. ; Wood, Nicholas W.

American journal of human genetics, 2015-06, Vol.96 (6), p.938-947 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
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Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset

Sng, Letitia M F ; Thomson, Peter C ; Trabzuni, Daniah

Scientific reports, 2020-10, Vol.10 (1), p.16603-16603, Article 16603 [Periódico revisado por pares]

England: Nature Publishing Group

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