Publications


Accepted

2018

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

Chen JA, Chen Z, Won H, Huang AY, Lowe JK, Wojta K, Yokoyama JS, Bensimon G, Leigh PN, Payan C, Shatunov A, Jones AR, Lewis CM, Deloukas P, Amouyel P, Tzourio C, Dartigues JF, Ludolph A, Boxer AL, Bronstein JM, Al-Chalabi A, Geschwind DH, Coppola G

Published in Molecular neurodegeneration - 2018 Aug 8

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Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.

Jabbari E, Woodside J, Tan MMX, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, Lees AJ, Warner TT, Hardy J, Revesz T, Höglinger GU, Holton JL, Ryten M, Morris HR

Published in Annals of neurology - 2018 Oct

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Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium., Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D...

Published in Science (New York, N.Y.) - 2018 Jun 22

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Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S...

Published in Brain : a journal of neurology - 2018 Feb 1

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A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H

Published in Human mutation - 2018 Feb

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Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model.

Reynolds RH, Petersen MH, Willert CW, Heinrich M, Nymann N, Dall M, Treebak JT, Björkqvist M, Silahtaroglu A, Hasholt L, Nørremølle A

Published in Molecular and cellular neurosciences - 2018 Apr

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2017

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M, SYNAPS Study Group., Houlden H

Published in Brain : a journal of neurology - 2017 Aug 1

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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.

Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH...

Published in Neurobiology of aging - 2017 Sep

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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, SYNAPSE Study Group., Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H

Published in American journal of human genetics - 2017 Jun 1

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An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.

Botía JA, Vandrovcova J, Forabosco P, Guelfi S, D'Sa K, United Kingdom Brain Expression Consortium., Hardy J, Lewis CM, Ryten M, Weale ME

Published in BMC systems biology - 2017 Apr 12

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Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

Murthy MN, Blauwendraat C, UKBEC., Guelfi S, IPDGC., Hardy J, Lewis PA, Trabzuni D

Published in Neurogenetics - 2017 Jul

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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N...

Published in Genome biology - 2017 Jan 30

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Novel genetic loci associated with hippocampal volume.

Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A...

Published in Nature communications - 2017 Jan 18

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

Soreq L, UK Brain Expression Consortium., North American Brain Expression Consortium., Rose J, Soreq E, Hardy J, Trabzuni D, Cookson MR, Smith C, Ryten M, Patani R, Ule J

Published in Cell reports - 2017 Jan 10

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Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb.

Chen Z, Lin K, Macklis JD, Al-Chalabi A

Published in Amyotrophic lateral sclerosis & frontotemporal degeneration - 2017 May

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A blood-based gene expression and signaling pathway analysis to differentiate between high and low grade gliomas.

Ponnampalam SN, Kamaluddin NR, Zakaria Z, Matheneswaran V, Ganesan D, Haspani MS, Ryten M, Hardy JA

Published in Oncology reports - 2017 Jan

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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.

Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB, International FTD-Genomics Consortium (IFGC),., International Parkinson's Disease Genomics Consortium (IPDGC),., International Genomics of Alzheimer's Project (IGAP),., Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM...

Published in Journal of neurology, neurosurgery, and psychiatry - 2017 Feb

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2016

Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases.

Gagliano SA, Pouget JG, Hardy J, Knight J, Barnes MR, Ryten M, Weale ME

Published in Annals of clinical and translational neurology - 2016 Dec

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Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T...

Published in Nature neuroscience - 2016 Dec

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Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J, Fogh I, Powell JF, Leigh PN, Morrison KE, Shaw PJ, Shaw CE, van den Berg LH, Veldink JH, Lewis CM, Al-Chalabi A

Published in Amyotrophic lateral sclerosis & frontotemporal degeneration - 2016 Oct - Nov

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Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.

Heidari M, Gerami SH, Bassett B, Graham RM, Chua AC, Aryal R, House MJ, Collingwood JF, Bettencourt C, Houlden H, Ryten M, UK Brain Expression Consortium (UKBEC)., Olynyk JK, Trinder D, Johnstone DM, Milward EA

Published in Rare diseases (Austin, Tex.) - 2016

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Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.

Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G...

Published in Journal of medical genetics - 2016 Aug

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Sneddon's syndrome: it is all in the ectoderm.

Rutter-Locher Z, Chen Z, Flores L, Basu T, Creamer D, Weeks R, Arya R, Nashef L

Published in Practical neurology - 2016 Aug

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Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.

Ferrari R, Forabosco P, Vandrovcova J, Botía JA, Guelfi S, Warren JD, UK Brain Expression Consortium (UKBEC)., Momeni P, Weale ME, Ryten M, Hardy J

Published in Molecular neurodegeneration - 2016 Feb 24

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Gene co-expression networks shed light into diseases of brain iron accumulation.

Bettencourt C, Forabosco P, Wiethoff S, Heidari M, Johnstone DM, Botía JA, Collingwood JF, Hardy J, UK Brain Expression Consortium (UKBEC)., Milward EA, Ryten M, Houlden H

Published in Neurobiology of disease - 2016 Mar

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2015

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J, UK Brain Expression Consortium., Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R

Published in Neurobiology of aging - 2015 Nov

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Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse models.

Huang Y, Skwarek-Maruszewska A, Horré K, Vandewyer E, Wolfs L, Snellinx A, Saito T, Radaelli E, Corthout N, Colombelli J, Lo AC, Van Aerschot L, Callaerts-Vegh Z, Trabzuni D, Bossers K, Verhaagen J, Ryten M, Munck S, D'Hooge R, Swaab DF, Hardy J, Saido TC, De Strooper B...

Published in Science translational medicine - 2015 Oct 14

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ADCY5 mutations are another cause of benign hereditary chorea.

Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP

Published in Neurology - 2015 Jul 7

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A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B...

Published in American journal of human genetics - 2015 Jun 4

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Recursive splicing in long vertebrate genes.

Sibley CR, Emmett W, Blazquez L, Faro A, Haberman N, Briese M, Trabzuni D, Ryten M, Weale ME, Hardy J, Modic M, Curk T, Wilson SW, Plagnol V, Ule J

Published in Nature - 2015 May 21

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Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Charlesworth G, Angelova PR, Bartolomé-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW

Published in American journal of human genetics - 2015 Apr 2

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A genome-wide gene-expression analysis and database in transgenic mice during development of amyloid or tau pathology.

Matarin M, Salih DA, Yasvoina M, Cummings DM, Guelfi S, Liu W, Nahaboo Solim MA, Moens TG, Paublete RM, Ali SS, Perona M, Desai R, Smith KJ, Latcham J, Fulleylove M, Richardson JC, Hardy J, Edwards FA

Published in Cell reports - 2015 Feb 3

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Common genetic variants influence human subcortical brain structures.

Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S...

Published in Nature - 2015 Apr 9

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2014

Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme <i>CYP24A1</i> in multiple sclerosis.

Ramasamy A, Trabzuni D, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S, North American Brain Expression Consortium (NABEC), UK Brain Expression Consortium (UKBEC)., Hardy J, Weale ME, Ryten M

Published in Multiple sclerosis and related disorders - 2014 Mar

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Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P...

Published in American journal of human genetics - 2014 Nov 6

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

Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, UK Brain Expression Consortium., North American Brain Expression Consortium., Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, Weale ME

Published in Nature neuroscience - 2014 Oct

Supporting data

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Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.

Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H, United Kingdom Brain Expression Consortium.

Published in JAMA neurology - 2014 Jul 1

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Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J, UK Brain Expression Consortium., Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R

Published in Neurobiology of aging - 2014 Jun

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The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA, Apostolova LG, Appel K, Armstrong NJ...

Published in Brain imaging and behavior - 2014 Jun

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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK...

Published in Nature - 2014 Jan 23

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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE

Published in Nature genetics - 2014 Jan

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Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M, UKBEC., Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H

Published in Journal of neurology, neurosurgery, and psychiatry - 2014 May

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2013

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

Trabzuni D, Ramasamy A, Imran S, Walker R, Smith C, Weale ME, Hardy J, Ryten M, North American Brain Expression Consortium.

Published in Nature communications - 2013

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Meta-analysis of symptomatic response attributable to the pacing component of cardiac resynchronization therapy.

Sohaib SM, Chen Z, Whinnett ZI, Bouri S, Dickstein K, Linde C, Hayes DL, Manisty CH, Francis DP

Published in European journal of heart failure - 2013 Dec

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK...

Published in Brain : a journal of neurology - 2013 Oct

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Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, International Parkinson Disease Genomics Consortium (IPDGC)., Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A...

Published in PloS one - 2013

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Gene expression changes with age in skin, adipose tissue, blood and brain.

Glass D, Viñuela A, Davies MN, Ramasamy A, Parts L, Knowles D, Brown AA, Hedman AK, Small KS, Buil A, Grundberg E, Nica AC, Di Meglio P, Nestle FO, Ryten M, UK Brain Expression consortium., MuTHER consortium., Durbin R, McCarthy MI, Deloukas P, Dermitzakis ET, Weale ME, Bataille V...

Published in Genome biology - 2013 Jul 26

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Insights into TREM2 biology by network analysis of human brain gene expression data.

Forabosco P, Ramasamy A, Trabzuni D, Walker R, Smith C, Bras J, Levine AP, Hardy J, Pocock JM, Guerreiro R, Weale ME, Ryten M

Published in Neurobiology of aging - 2013 Dec

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Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.

Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Ilori GP, Shabalin AA, Li Y, Singleton AB, Cookson MR, NABEC., Hardy J, UKBEC., Ryten M, Weale ME

Published in Nucleic acids research - 2013 Apr

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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H

Published in Annals of neurology - 2013 Apr

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Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Alzheimer's Disease Genetics Consortium., Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A...

Published in Annals of human genetics - 2013 Mar

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Age-associated changes in gene expression in human brain and isolated neurons.

Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Trabzuni D, Ryten M, Walker R, Smith C, Traynor BJ, Hardy J, Singleton AB, Cookson MR

Published in Neurobiology of aging - 2013 Apr

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2012

A case of tricuspid regurgitation and congestive cardiac failure presenting with orbital pulsation.

Chen Z, Jones H

Published in JRSM cardiovascular disease - 2012

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Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW

Published in American journal of human genetics - 2012 Dec 7

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An approach for representing sensor data to validate alerts in Ambient Assisted Living.

Muñoz A, Serrano E, Villa A, Valdés M, Botía JA

Published in Sensors (Basel, Switzerland) - 2012

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

Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M

Published in Human molecular genetics - 2012 Sep 15

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Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis.

Patani R, Lewis PA, Trabzuni D, Puddifoot CA, Wyllie DJ, Walker R, Smith C, Hardingham GE, Weale M, Hardy J, Chandran S, Ryten M

Published in Journal of neurochemistry - 2012 Aug

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Identification of common variants associated with human hippocampal and intracranial volumes.

Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM...

Published in Nature genetics - 2012 Apr 15

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Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR

Published in Neurobiology of disease - 2012 Jul

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2011

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M...

Published in Neuron - 2011 Oct 20

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Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus.

Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, Houlden H, Cavaleri F, Nagano M, Drummond NJ, Taanman JW, Schapira AH, Gwinn K, Hardy J, Lewis PA, Kunath T

Published in Nature communications - 2011 Aug 23

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

Trabzuni D, Ryten M, Walker R, Smith C, Imran S, Ramasamy A, Weale ME, Hardy J

Published in Journal of neurochemistry - 2011 Oct

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Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.

Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA

Published in PloS one - 2011

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Metal-on-metal hip resurfacings--a radiological perspective.

Chen Z, Pandit H, Taylor A, Gill H, Murray D, Ostlere S

Published in European radiology - 2011 Mar

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2010

The internet for self-diagnosis and prognostication in ALS.

Chen Z, Turner MR

Published in Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 2010 Dec

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2009

Whole genome expression as a quantitative trait.

Hardy J, Trabzuni D, Ryten M

Published in Biochemical Society transactions - 2009 Dec

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Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases.

Ryten M, Trabzuni D, Hardy J

Published in Briefings in functional genomics & proteomics - 2009 May

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2008

Characterization of calcium-independent purinergic receptor-mediated apoptosis in hormone-refractory prostate cancer.

Shabbir M, Ryten M, Thompson C, Mikhailidis D, Burnstock G

Published in BJU international - 2008 Feb

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Purinergic receptor-mediated effects of ATP in high-grade bladder cancer.

Shabbir M, Ryten M, Thompson C, Mikhailidis D, Burnstock G

Published in BJU international - 2008 Jan

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2005

P2Y purinergic receptors regulate the growth of human melanomas.

White N, Ryten M, Clayton E, Butler P, Burnstock G

Published in Cancer letters - 2005 Jun 16

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2004

Purinoceptor expression in regenerating skeletal muscle in the mdx mouse model of muscular dystrophy and in satellite cell cultures.

Ryten M, Yang SY, Dunn PM, Goldspink G, Burnstock G

Published in FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 2004 Sep

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Providing QoS through machine-learning-driven adaptive multimedia applications.

Ruiz PM, Botía JA, Gómez-Skarmeta A

Published in IEEE transactions on systems, man, and cybernetics. Part B, Cybernetics : a publication of the IEEE Systems, Man, and Cybernetics Society - 2004 Jun

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2003

Abundant and dynamic expression of G protein-coupled P2Y receptors in mammalian development.

Cheung KK, Ryten M, Burnstock G

Published in Developmental dynamics : an official publication of the American Association of Anatomists - 2003 Oct

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2002

ATP regulates the differentiation of mammalian skeletal muscle by activation of a P2X5 receptor on satellite cells.

Ryten M, Dunn PM, Neary JT, Burnstock G

Published in The Journal of cell biology - 2002 Jul 22

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