Recent Publications

Displaying 35 most recent publications. For the full list please visit UCL Discovery

1. Guerreiro RJ,Lohmann E,Brás JM,Gibbs JR,Rohrer JD,Gurunlian N,Dursun B,Bilgic B,Hanagasi H,Gurvit H,Emre M,Singleton A,Hardy J (2013) Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol, 70(1), 78 - 84. 10.1001/jamaneurol.2013.579.
2. Guerreiro R,Wojtas A,Bras J,Carrasquillo M,Rogaeva E,Majounie E,Cruchaga C,Sassi C,Kauwe JS,Younkin S,Hazrati L,Collinge J,Pocock J,Lashley T,Williams J,Lambert JC,Amouyel P,Goate A,Rademakers R,Morgan K,Powell J,St George-Hyslop P,Singleton A,Hardy J,Alzheimer Genetic Analysis Group (2013) TREM2 variants in Alzheimer's disease. N Engl J Med, 368(2), 117 - 127. 10.1056/NEJMoa1211851.
3. Keller MF,Saad M,Bras J,Bettella F,Nicolaou N,Simón-Sánchez J,Mittag F,Büchel F,Sharma M,Gibbs JR,Schulte C,Moskvina V,Durr A,Holmans P,Kilarski LL,Guerreiro R,Hernandez DG,Brice A,Ylikotila P,Stefánsson H,Majamaa K,Morris HR,Williams N,Gasser T,Heutink P,Wood NW,Hardy J,Martinez M,Singleton AB,Nalls MA,International Parkinson's Disease Genomics Consortium (IPDGC) ,Wellcome Trust Case Control Consortium 2 (WTCCC2) (2012) Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet, 21(22), 4996 - 5009. 10.1093/hmg/dds335.
4. Guerreiro RJ,Lohmann E,Kinsella E,Brás JM,Luu N,Gurunlian N,Dursun B,Bilgic B,Santana I,Hanagasi H,Gurvit H,Gibbs JR,Oliveira C,Emre M,Singleton A (2012) Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging, 33(5), 1008.e17 - 1008.e23. 10.1016/j.neurobiolaging.2011.10.009.
5. Kojovic M,Sheerin U,Rubio-Agusti I,Bras J,Wood N,Houlden H,Hardy J,Bhatia K (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan NEUROLOGY, 78.
6. 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 (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet, 91(6), 1041 - 1050. 10.1016/j.ajhg.2012.10.024.
7. Bras J,Verloes A,Schneider SA,Mole SE,Guerreiro RJ (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet, 21(12), 2646 - 2650. 10.1093/hmg/dds089.
8. Charlesworth G,Gandhi S,Bras JM,Barker RA,Burn DJ,Chinnery PF,Gentleman SM,Guerreiro R,Hardy J,Holton JL,Lees A,Morrison K,Sheerin UM,Williams N,Morris H,Revesz T,Wood NW (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging, 33(4), 838.e7 - 838.11. 10.1016/j.neurobiolaging.2011.11.001.
9. McNeill A,Duran R,Proukakis C,Bras J,Hughes D,Mehta A,Hardy J,Wood NW,Schapira AH (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord, 27(4), 526 - 532. 10.1002/mds.24945.
10. Louro Guerreiro RJ,Woltas AMS,Bras J,Carrasquillo M,Ekaterina R,Majounie E,Cruchaga C,Sassi C,Kauwe JSK,Younkin S,Hazrati L,Collinge J,Pocock J,Lashley T,Williams J,Lambert JC,Amouyel P,Goate A,Rademakers R,Morgan K,Powell J,St. George-Hyslop P,Singleton A,Hardy J (2012) TREM2 Variants in Alzheimer's Disease New England Journal of Medicine. 10.1056/NEJMoa211851.
11. Sheerin UM,Charlesworth G,Bras J,Guerreiro R,Bhatia K,Foltynie T,Limousin P,Silveira-Moriyama L,Lees A,Wood N (2012) Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging, 33(4), 838.e1 - 838.e5. 10.1016/j.neurobiolaging.2011.10.032.
12. Bras J,Guerreiro R,Hardy J (2012) Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci, 13(7), 453 - 464. 10.1038/nrn3271.
13. Nalls MA,Plagnol V,Hernandez DG,Sharma M,Sheerin UM,Saad M,Simon-Sanchez J,Schulte C,Lesage S,Sveinbjornsdottir S,Arepalli S,Barker R,Ben-Shlomo Y,Berendse HW,Berg D,Bhatia K,de Bie RMA,Biffi A,Bloem B,Bochdanovits Z,Bonin M,Bras JM,Brockmann K,Brooks J,Burn DJ,Charlesworth G,Chen HL,Chinnery PF,Chong S,Clarke CE,Cookson MR,Cooper JM,Corvol JC,Counsell C,Damier P,Dartigues JF,Deloukas P,Deuschl G,Dexter DT,van Dijk KD,Dillman A,Durif F,Durr A,Edkins S,Evans JR,Foltynie T,Gao JJ,Gardner M,Gibbs JR,Goate A,Gray E,Guerreiro R,Gustafsson O,Harris C,van Hilten JJ,Hofman A,Hollenbeck A,Holton J,Hu M,Huang XM,Huber H,Hudson G,Hunt SE,Huttenlocher J,Illig T,Jonsson PV,Lambert JC,Langford C,Lees A,Lichtner P,Limousin P,Lopez G,Lorenz D,McNeill A,Moorby C,Moore M,Morris HR,Morrison KE,Mudanohwo E,O'Sullivan SS,Pearson J,Perlmutter JS,Petursson H,Pollak P,Post B,Potter S,Ravina B,Revesz T,Riess O,Rivadeneira F,Rizzu P,Ryten M,Sawcer S,Schapira A,Scheffer H,Shaw K,Shoulson I,Sidransky E,Smith C,Spencer CCA,Stefansson H,Stockton JD,Strange A,Talbot K,Tanner CM,Tashakkori-Ghanbaria A,Tison F,Trabzuni D,Traynor BJ,Uitterlinden AG,Velseboer D,Vidailhet M,Walker R,van de Warrenburg B,Wickremaratchi M,Williams N,Williams-Gray CH,Winder-Rhodes S,Stefansson K,Martinez M,Hardy J,Heutink P,Brice A,Gasser T,Singleton AB,Wood NW,Int Parkinson Dis Genomics Consort ,Wellcome Trust Case-Control Consor (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies LANCET, 377(9766), 641 - 649. 10.1016/S0140-6736(10)62345-8.
14. Bras JM,Singleton AB (2011) Exome sequencing in Parkinson's disease CLIN GENET, 80(2), 104 - 109. 10.1111/j.1399-0004.2011.01722.x.
15. Plagnol V,Nalls MA,Bras JM,Hernandez DG,Sharma M,Sheerin UM,Saad M,Simon-Sanchez J,Schulte C,Lesage S,Sveinbjornsdottir S,Amouyel P,Arepalli S,Band G,Barker RA,Bellinguez C,Ben-Shlomo Y,Berendse HW,Berg D,Bhatia K,de Bie RMA,Biffi A,Bloem B,Bochdanovits Z,Bonin M,Brockmann K,Brooks J,Burn DJ,Charlesworth G,Chen HL,Chinnery PF,Chong S,Clarke CE,Cookson MR,Cooper JM,Corvol JC,Counsell C,Damier P,Dartigues JF,Deloukas P,Deuschl G,Dexter DT,van Dijk KD,Dillman A,Durif F,Durr A,Edkins S,Evans JR,Foltynie T,Freeman C,Gao JJ,Gardner M,Gibbs JR,Goate A,Gray E,Guerreiro R,Gustafsson O,Harris C,Hellenthal G,van Hilten JJ,Hofman A,Hollenbeck A,Holton J,Hu M,Huang XM,Huber H,Hudson G,Hunt SE,Huttenlocher J,Illig T,Jonsson PV,Langford C,Lees A,Lichtner P,Limousin P,Lopez G,Lorenz D,McNeill A,Moorby C,Moore M,Morris H,Morrison KE,Mudanohwo E,O'Sullivan SS,Pearson J,Pearson R,Perlmutter JS,Petursson H,Pirinen M,Pollak P,Post B,Potter S,Ravina B,Revesz T,Riess O,Rivadeneira F,Rizzu P,Ryten M,Sawcer S,Schapira A,Scheffer H,Shaw K,Shoulson I,Sidransky E,de Silva R,Smith C,Spencer CCA,Stefansson H,Steinberg S,Stockton JD,Strange A,Su Z,Talbot K,Tanner CM,Tashakkori-Ghanbaria A,Tison F,Trabzuni D,Traynor BJ,Uitterlinden AG,Vandrovcova J,Velseboer D,Vidailhet M,Vukcevic D,Walker R,van de Warrenburg B,Weale ME,Wickremaratchi M,Williams N,Williams-Gray CH,Winder-Rhodes S,Stefansson K,Martinez M,Donnelly P,Singleton AB,Hardy J,Heutink P,Brice A,Gasser T,Wood NW,WTCCC2 (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease PLOS GENET, 7(6). 10.1371/journal.pgen.1002142.
16. van de Leemput J,Wavrant-De Vrièze F,Rafferty I,Bras JM,Giunti P,Fisher EM,Hardy JA,Singleton AB,Houlden H (2010) Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord, 25(6), 771 - 773. 10.1002/mds.22970.
17. Guerreiro RJ,Baquero M,Blesa R,Boada M,Brás JM,Bullido MJ,Calado A,Crook R,Ferreira C,Frank A,Gómez-Isla T,Hernández I,Lleó A,Machado A,Martínez-Lage P,Masdeu J,Molina-Porcel L,Molinuevo JL,Pastor P,Pérez-Tur J,Relvas R,Oliveira CR,Ribeiro MH,Rogaeva E,Sa A,Samaranch L,Sánchez-Valle R,Santana I,Tàrraga L,Valdivieso F,Singleton A,Hardy J,Clarimón J (2010) Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging, 31(5), 725 - 731. 10.1016/j.neurobiolaging.2008.06.012.
18. Bras J,Paisan-Ruiz C,Guerreiro R,Ribeiro MH,Morgadinho A,Januario C,Sidransky E,Oliveira C,Singleton A (2009) Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging, 30(9), 1515 - 1517. 10.1016/j.neurobiolaging.2007.11.016.
19. Neumann J,Bras J,Deas E,O'Sullivan SS,Parkkinen L,Lachmann RH,Li A,Holton J,Guerreiro R,Paudel R,Segarane B,Singleton A,Lees A,Hardy J,Houlden H,Revesz T,Wood NW (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease Brain, 132(7), 1783 - 1794. 10.1093/brain/awp044.
20. Neumann J,Parkkinen L,Bras J,O'sullivan SS,Deas E,Lachmann H,Li A,Holton L,Guerreiro R,Paudel R,Segarane B,Singleton A,Lees A,Hardy J,Houlden H,Revesz T,Wood NW (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 35, 3 - 3.
21. Sidransky E,Nalls MA,Aasly JO,Aharon-Peretz J,Annesi G,Barbosa ER,Bar-Shira A,Berg D,Bras J,Brice A,Chen CM,Clark LN,Condroyer C,De Marco EV,Dürr A,Eblan MJ,Fahn S,Farrer MJ,Fung HC,Gan-Or Z,Gasser T,Gershoni-Baruch R,Giladi N,Griffith A,Gurevich T,Januario C,Kropp P,Lang AE,Lee-Chen GJ,Lesage S,Marder K,Mata IF,Mirelman A,Mitsui J,Mizuta I,Nicoletti G,Oliveira C,Ottman R,Orr-Urtreger A,Pereira LV,Quattrone A,Rogaeva E,Rolfs A,Rosenbaum H,Rozenberg R,Samii A,Samaddar T,Schulte C,Sharma M,Singleton A,Spitz M,Tan EK,Tayebi N,Toda T,Troiano AR,Tsuji S,Wittstock M,Wolfsberg TG,Wu YR,Zabetian CP,Zhao Y,Ziegler SG (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med, 361(17), 1651 - 1661. 10.1056/NEJMoa0901281.
22. Bras JM,Singleton A (2009) Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta, 1792(7), 597 - 603. 10.1016/j.bbadis.2008.11.008.
23. Bras J,Simón-Sánchez J,Federoff M,Morgadinho A,Januario C,Ribeiro M,Cunha L,Oliveira C,Singleton AB (2009) Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet, 18(2), 341 - 346. 10.1093/hmg/ddn340.
24. Scholz SW,Houlden H,Schulte C,Sharma M,Li A,Berg D,Melchers A,Paudel R,Gibbs JR,Simon-Sanchez J,Paisan-Ruiz C,Bras J,Ding J,Chen H,Traynor BJ,Arepalli S,Zonozi RR,Revesz T,Holton J,Wood N,Lees A,Oertel W,Wüllner U,Goldwurm S,Pellecchia MT,Illig T,Riess O,Fernandez HH,Rodriguez RL,Okun MS,Poewe W,Wenning GK,Hardy JA,Singleton AB,Del Sorbo F,Schneider S,Bhatia KP,Gasser T (2009) SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol, 65(5), 610 - 614. 10.1002/ana.21685.
25. Simón-Sánchez J,Schulte C,Bras JM,Sharma M,Gibbs JR,Berg D,Paisan-Ruiz C,Lichtner P,Scholz SW,Hernandez DG,Krüger R,Federoff M,Klein C,Goate A,Perlmutter J,Bonin M,Nalls MA,Illig T,Gieger C,Houlden H,Steffens M,Okun MS,Racette BA,Cookson MR,Foote KD,Fernandez HH,Traynor BJ,Schreiber S,Arepalli S,Zonozi R,Gwinn K,van der Brug M,Lopez G,Chanock SJ,Schatzkin A,Park Y,Hollenbeck A,Gao J,Huang X,Wood NW,Lorenz D,Deuschl G,Chen H,Riess O,Hardy JA,Singleton AB,Gasser T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet, 41(12), 1308 - 1312. 10.1038/ng.487.
26. Nalls MA,Guerreiro RJ,Simon-Sanchez J,Bras JT,Traynor BJ,Gibbs JR,Launer L,Hardy J,Singleton AB (2009) Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease Neurogenetics, 10(3), 183 - 190. 10.1007/s10048-009-0182-4.
27. Bras J,Singleton A,Cookson MR,Hardy J (2008) Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J, 275(23), 5767 - 5773. 10.1111/j.1742-4658.2008.06709.x.
28. Guerreiro RJ,Santana I,Bras JM,Revesz T,Rebelo O,Ribeiro MH,Santiago B,Oliveira CR,Singleton A,Hardy J (2008) Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord, 23(9), 1269 - 1273. 10.1002/mds.22078.
29. Jakobsson M,Scholz SW,Scheet P,Gibbs JR,VanLiere JM,Fung HC,Szpiech ZA,Degnan JH,Wang K,Guerreiro R,Bras JM,Schymick JC,Hernandez DG,Traynor BJ,Simon-Sanchez J,Matarin M,Britton A,van de Leemput J,Rafferty I,Bucan M,Cann HM,Hardy JA,Rosenberg NA,Singleton AB (2008) Genotype, haplotype and copy-number variation in worldwide human populations Nature, 451(7181), 998 - 1003. 10.1038/nature06742.
30. Okubadejo N,Britton A,Crews C,Akinyemi R,Hardy J,Singleton A,Bras J (2008) Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS One, 3(10), e3421. 10.1371/journal.pone.0003421.
31. Bras J,Singleton A,Cookson MR,Hardy J (2008) Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease The FEBS Journal, 275(23), 5767 - 5773. 10.1111/j.1742-4658.2008.06709.x.
32. Camargos S,Scholz S,Simón-Sánchez J,Paisán-Ruiz C,Lewis P,Hernandez D,Ding J,Gibbs JR,Cookson MR,Bras J,Guerreiro R,Oliveira CR,Lees A,Hardy J,Cardoso F,Singleton AB (2008) DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol, 7(3), 207 - 215. 10.1016/S1474-4422(08)70022-X.
33. Bras J,Guerreiro R,Ribeiro M,Morgadinho A,Januario C,Dias M,Calado A,Semedo C,Oliveira C,Hardy J,Singleton A (2008) Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol, 8, 1. 10.1186/1471-2377-8-1.
34. Guerreiro RJ,Bras JM,Santana I,Januario C,Santiago B,Morgadinho AS,Ribeiro MH,Hardy J,Singleton A,Oliveira C (2006) Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol, 6, 24. 10.1186/1471-2377-6-24.
35. Bras JM,Guerreiro RJ,Ribeiro MH,Januario C,Morgadinho A,Oliveira CR,Cunha L,Hardy J,Singleton A (2005) G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord, 20(12), 1653 - 1655. 10.1002/mds.20682.