UK Parkinson's Disease Consortium

UK Parkinson's Disease Consortium - UKPDC

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    • Jose Miguel Bras
    • Rita Louro Guerreiro
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Jose Miguel Bras

(Research Fellow)

I am a human geneticist whose research interests are primarily directed at how genetic variability acts on neurodegenerative diseases. My scientific carrier started with a B.Sc. from the Coimbra Polytechnic Institute, Portugal in 2002, followed by a M.S. degree from the Aveiro University, Portugal in 2005 and lastly a PhD (Hons) degree from the Coimbra University, Portugal in 2010. During my PhD I have worked under the supervision of Dr. Andrew Singleton and Dr. Catarina Oliveira at the Laboratory of Neurogenetics, NIA, NIH, USA studying the genetic basis of neurological diseases. In 2010 I joined UCL as a postdoctoral research assistant in the Department of Molecular Neuroscience, where I continue to study the genetic basis of neurodegenerative diseases.

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Link to publications

Jump to: 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2006 | 2005

Number of items: 35.

2013

Guerreiro, R and Wojtas, A and Bras, J and Carrasquillo, M and Rogaeva, E and Majounie, E and Cruchaga, C and Sassi, C and Kauwe, JS and Younkin, S and Hazrati, L and Collinge, J and Pocock, J and Lashley, T and Williams, J and Lambert, JC and Amouyel, P and Goate, A and Rademakers, R and Morgan, K and Powell, J and St George-Hyslop, P and Singleton, A and Hardy, J and Alzheimer Genetic Analysis Group, (2013) TREM2 variants in Alzheimer's disease. N Engl J Med , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, R and Wojtas, A and Bras, J and Carrasquillo, M and Rogaeva, E and Majounie, E and Cruchaga, C and Sassi, C and Kauwe, JSK and Younkin, S and Hazrati, L and Collinge, J and Pocock, J and Lashley, T and Williams, J and Lambert, J-C and Amouyel, P and Goate, A and Rademakers, R and Morgan, K and Powell, J and St George-Hyslop, P and Singleton, A and Hardy, J and Grp, AGA (2013) TREM2 Variants in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, RJ and Lohmann, E and Brás, JM and Gibbs, JR and Rohrer, JD and Gurunlian, N and Dursun, B and Bilgic, B and Hanagasi, H and Gurvit, H and Emre, M and Singleton, A and 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.

2012

Bras, J and Guerreiro, R and 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.

Bras, J and Verloes, A and Schneider, SA and Mole, SE and Guerreiro, RJ (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. An open access publication

Charlesworth, G and Gandhi, S and Bras, JM and Barker, RA and Burn, DJ and Chinnery, PF and Gentleman, SM and Guerreiro, R and Hardy, J and Holton, JL and Lees, A and Morrison, K and Sheerin, UM and Williams, N and Morris, H and Revesz, T and 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.

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

Guerreiro, RJ and Lohmann, E and Kinsella, E and Brás, JM and Luu, N and Gurunlian, N and Dursun, B and Bilgic, B and Santana, I and Hanagasi, H and Gurvit, H and Gibbs, JR and Oliveira, C and Emre, M and 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.

Keller, MF and Saad, M and Bras, J and Bettella, F and Nicolaou, N and Simón-Sánchez, J and Mittag, F and Büchel, F and Sharma, M and Gibbs, JR and Schulte, C and Moskvina, V and Durr, A and Holmans, P and Kilarski, LL and Guerreiro, R and Hernandez, DG and Brice, A and Ylikotila, P and Stefánsson, H and Majamaa, K and Morris, HR and Williams, N and Gasser, T and Heutink, P and Wood, NW and Hardy, J and Martinez, M and Singleton, AB and Nalls, MA and International Parkinson's Disease Genomics Consortium (IPDGC), and 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.

Kojovic, M and Sheerin, U and Rubio-Agusti, I and Bras, J and Wood, N and Houlden, H and Hardy, J and Bhatia, K (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: NEUROLOGY.

McNeill, A and Duran, R and Proukakis, C and Bras, J and Hughes, D and Mehta, A and Hardy, J and Wood, NW and Schapira, AH (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) 526 - 532. 10.1002/mds.24945.

Sheerin, UM and Charlesworth, G and Bras, J and Guerreiro, R and Bhatia, K and Foltynie, T and Limousin, P and Silveira-Moriyama, L and Lees, A and 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.

2011

Bras, JM and Singleton, AB (2011) Exome sequencing in Parkinson's disease. CLIN GENET , 80 (2) 104 - 109. 10.1111/j.1399-0004.2011.01722.x.

Nalls, MA and Plagnol, V and Hernandez, DG and Sharma, M and Sheerin, UM and Saad, M and Simon-Sanchez, J and Schulte, C and Lesage, S and Sveinbjornsdottir, S and Arepalli, S and Barker, R and Ben-Shlomo, Y and Berendse, HW and Berg, D and Bhatia, K and de Bie, RMA and Biffi, A and Bloem, B and Bochdanovits, Z and Bonin, M and Bras, JM and Brockmann, K and Brooks, J and Burn, DJ and Charlesworth, G and Chen, HL and Chinnery, PF and Chong, S and Clarke, CE and Cookson, MR and Cooper, JM and Corvol, JC and Counsell, C and Damier, P and Dartigues, JF and Deloukas, P and Deuschl, G and Dexter, DT and van Dijk, KD and Dillman, A and Durif, F and Durr, A and Edkins, S and Evans, JR and Foltynie, T and Gao, JJ and Gardner, M and Gibbs, JR and Goate, A and Gray, E and Guerreiro, R and Gustafsson, O and Harris, C and van Hilten, JJ and Hofman, A and Hollenbeck, A and Holton, J and Hu, M and Huang, XM and Huber, H and Hudson, G and Hunt, SE and Huttenlocher, J and Illig, T and Jonsson, PV and Lambert, JC and Langford, C and Lees, A and Lichtner, P and Limousin, P and Lopez, G and Lorenz, D and McNeill, A and Moorby, C and Moore, M and Morris, HR and Morrison, KE and Mudanohwo, E and O'Sullivan, SS and Pearson, J and Perlmutter, JS and Petursson, H and Pollak, P and Post, B and Potter, S and Ravina, B and Revesz, T and Riess, O and Rivadeneira, F and Rizzu, P and Ryten, M and Sawcer, S and Schapira, A and Scheffer, H and Shaw, K and Shoulson, I and Sidransky, E and Smith, C and Spencer, CCA and Stefansson, H and Stockton, JD and Strange, A and Talbot, K and Tanner, CM and Tashakkori-Ghanbaria, A and Tison, F and Trabzuni, D and Traynor, BJ and Uitterlinden, AG and Velseboer, D and Vidailhet, M and Walker, R and van de Warrenburg, B and Wickremaratchi, M and Williams, N and Williams-Gray, CH and Winder-Rhodes, S and Stefansson, K and Martinez, M and Hardy, J and Heutink, P and Brice, A and Gasser, T and Singleton, AB and Wood, NW and Int Parkinson Dis Genomics Consort, and 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.

Plagnol, V and Nalls, MA and Bras, JM and Hernandez, DG and Sharma, M and Sheerin, UM and Saad, M and Simon-Sanchez, J and Schulte, C and Lesage, S and Sveinbjornsdottir, S and Amouyel, P and Arepalli, S and Band, G and Barker, RA and Bellinguez, C and Ben-Shlomo, Y and Berendse, HW and Berg, D and Bhatia, K and de Bie, RMA and Biffi, A and Bloem, B and Bochdanovits, Z and Bonin, M and Brockmann, K and Brooks, J and Burn, DJ and Charlesworth, G and Chen, HL and Chinnery, PF and Chong, S and Clarke, CE and Cookson, MR and Cooper, JM and Corvol, JC and Counsell, C and Damier, P and Dartigues, JF and Deloukas, P and Deuschl, G and Dexter, DT and van Dijk, KD and Dillman, A and Durif, F and Durr, A and Edkins, S and Evans, JR and Foltynie, T and Freeman, C and Gao, JJ and Gardner, M and Gibbs, JR and Goate, A and Gray, E and Guerreiro, R and Gustafsson, O and Harris, C and Hellenthal, G and van Hilten, JJ and Hofman, A and Hollenbeck, A and Holton, J and Hu, M and Huang, XM and Huber, H and Hudson, G and Hunt, SE and Huttenlocher, J and Illig, T and Jonsson, PV and Langford, C and Lees, A and Lichtner, P and Limousin, P and Lopez, G and Lorenz, D and McNeill, A and Moorby, C and Moore, M and Morris, H and Morrison, KE and Mudanohwo, E and O'Sullivan, SS and Pearson, J and Pearson, R and Perlmutter, JS and Petursson, H and Pirinen, M and Pollak, P and Post, B and Potter, S and Ravina, B and Revesz, T and Riess, O and Rivadeneira, F and Rizzu, P and Ryten, M and Sawcer, S and Schapira, A and Scheffer, H and Shaw, K and Shoulson, I and Sidransky, E and de Silva, R and Smith, C and Spencer, CCA and Stefansson, H and Steinberg, S and Stockton, JD and Strange, A and Su, Z and Talbot, K and Tanner, CM and Tashakkori-Ghanbaria, A and Tison, F and Trabzuni, D and Traynor, BJ and Uitterlinden, AG and Vandrovcova, J and Velseboer, D and Vidailhet, M and Vukcevic, D and Walker, R and van de Warrenburg, B and Weale, ME and Wickremaratchi, M and Williams, N and Williams-Gray, CH and Winder-Rhodes, S and Stefansson, K and Martinez, M and Donnelly, P and Singleton, AB and Hardy, J and Heutink, P and Brice, A and Gasser, T and Wood, NW and WTCCC2, (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLOS GENET , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. An open access publication

2010

Guerreiro, RJ and Baquero, M and Blesa, R and Boada, M and Bras, JM and Bullido, MJ and Calado, A and Crook, R and Ferreira, C and Frank, A and Gomez-Isla, T and Hernandez, I and Lleo, A and Machado, A and Martinez-Lage, P and Masdeu, J and Molina-Porcel, L and Molinuevo, JL and Pastor, P and Perez-Tur, J and Relvas, R and Oliveira, CR and Ribeiro, MH and Rogaeva, E and Sa, A and Samaranch, L and Sanchez-Valle, R and Santana, I and Tarraga, L and Valdivieso, F and Singleton, A and Hardy, J and Clarimon, 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.

van de Leemput, J and Wavrant-De Vrieze, F and Rafferty, I and Bras, JM and Giunti, P and Fisher, EMC and Hardy, JA and Singleton, AB and Houlden, H (2010) Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series. MOVEMENT DISORD , 25 (6) 771 - 773. 10.1002/mds.22970.

2009

Bras, J and Paisan-Ruiz, C and Guerreiro, R and Ribeiro, MH and Morgadinho, A and Januario, C and Sidransky, E and Oliveira, C and 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.

Bras, J and Simón-Sánchez, J and Federoff, M and Morgadinho, A and Januario, C and Ribeiro, M and Cunha, L and Oliveira, C and 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.

Bras, JM and Singleton, A (2009) Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta , 1792 (7) 597 - 603. 10.1016/j.bbadis.2008.11.008.

Nalls, MA and Guerreiro, RJ and Simon-Sanchez, J and Bras, JT and Traynor, BJ and Gibbs, JR and Launer, L and Hardy, J and 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.

Neumann, J and Bras, J and Deas, E and O'Sullivan, SS and Parkkinen, L and Lachmann, RH and Li, A and Holton, J and Guerreiro, R and Paudel, R and Segarane, B and Singleton, A and Lees, A and Hardy, J and Houlden, H and Revesz, T and Wood, NW (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044. An open access publication

Neumann, J and Parkkinen, L and Bras, J and O'sullivan, SS and Deas, E and Lachmann, H and Li, A and Holton, L and Guerreiro, R and Paudel, R and Segarane, B and Singleton, A and Lees, A and Hardy, J and Houlden, H and Revesz, T and Wood, NW (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING

Scholz, SW and Houlden, H and Schulte, C and Sharma, M and Li, A and Berg, D and Melchers, A and Paudel, R and Gibbs, JR and Simon-Sanchez, J and Paisan-Ruiz, C and Bras, J and Ding, JH and Chen, H and Traynor, BJ and Arepalli, S and Zonozi, RR and Revesz, T and Holton, J and Wood, N and Lees, A and Oertel, W and Wullner, U and Goldwurm, S and Pellecchia, MT and Illig, T and Riess, O and Fernandez, HH and Rodriguez, RL and Okun, MS and Poewe, W and Wenning, GK and Hardy, JA and Singleton, AB and Gasser, T (2009) SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy. ANN NEUROL , 65 (5) 610 - 614. 10.1002/ana.21685.

Sidransky, E and Nalls, MA and Aasly, JO and Aharon-Peretz, J and Annesi, G and Barbosa, ER and Bar-Shira, A and Berg, D and Bras, J and Brice, A and Chen, CM and Clark, LN and Condroyer, C and De Marco, EV and Dürr, A and Eblan, MJ and Fahn, S and Farrer, MJ and Fung, HC and Gan-Or, Z and Gasser, T and Gershoni-Baruch, R and Giladi, N and Griffith, A and Gurevich, T and Januario, C and Kropp, P and Lang, AE and Lee-Chen, GJ and Lesage, S and Marder, K and Mata, IF and Mirelman, A and Mitsui, J and Mizuta, I and Nicoletti, G and Oliveira, C and Ottman, R and Orr-Urtreger, A and Pereira, LV and Quattrone, A and Rogaeva, E and Rolfs, A and Rosenbaum, H and Rozenberg, R and Samii, A and Samaddar, T and Schulte, C and Sharma, M and Singleton, A and Spitz, M and Tan, EK and Tayebi, N and Toda, T and Troiano, AR and Tsuji, S and Wittstock, M and Wolfsberg, TG and Wu, YR and Zabetian, CP and Zhao, Y and Ziegler, SG (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med , 361 (17) 1651 - 1661. 10.1056/NEJMoa0901281.

Simon-Sanchez, J and Schulte, C and Bras, JM and Sharma, M and Gibbs, JR and Berg, D and Paisan-Ruiz, C and Lichtner, P and Scholz, SW and Hernandez, DG and Kruger, R and Federoff, M and Klein, C and Goate, A and Perlmutter, J and Bonin, M and Nalls, MA and Illig, T and Gieger, C and Houlden, H and Steffens, M and Okun, MS and Racette, BA and Cookson, MR and Foote, KD and Fernandez, HH and Traynor, BJ and Schreiber, S and Arepalli, S and Zonozi, R and Gwinn, K and van der Brug, M and Lopez, G and Chanock, SJ and Schatzkin, A and Park, Y and Hollenbeck, A and Gao, JJ and Huang, XM and Wood, NW and Lorenz, D and Deuschl, G and Chen, HL and Riess, O and Hardy, JA and Singleton, AB and Gasser, T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. NAT GENET , 41 (12) 1308 - U68. 10.1038/ng.487.

2008

Bras, J and Guerreiro, R and Ribeiro, M and Morgadinho, A and Januario, C and Dias, M and Calado, A and Semedo, C and Oliveira, C and Hardy, J and Singleton, A (2008) Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurology , 8 , Article 1. 10.1186/1471-2377-8-1. An open access publication. A version is also available from UCL Discovery.

Bras, J and Singleton, A and Cookson, MR and 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.

Bras, J and Singleton, A and Cookson, MR and 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.

Camargos, S and Scholz, S and Simon-Sanchez, J and Paisan-Ruiz, C and Lewis, P and Hernandez, D and Ding, J and Gibbs, JR and Cookson, MR and Bras, J and Guerreiro, R and Oliveira, CR and Lees, A and Hardy, J and Cardoso, F and Singleton, AB (2008) DYT16, a novel young-onset dystonia-parkinson ism 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.

Guerreiro, RJ and Santana, I and Bras, JM and Revesz, T and Rebelo, O and Ribeiro, MH and Santiago, B and Oliveira, CR and Singleton, A and Hardy, J (2008) Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases. MOVEMENT DISORD , 23 (9) 1269 - 1273. 10.1002/mds.22078.

Jakobsson, M and Scholz, SW and Scheet, P and Gibbs, JR and VanLiere, JM and Fung, HC and Szpiech, ZA and Degnan, JH and Wang, K and Guerreiro, R and Bras, JM and Schymick, JC and Hernandez, DG and Traynor, BJ and Simon-Sanchez, J and Matarin, M and Britton, A and van de Leemput, J and Rafferty, I and Bucan, M and Cann, HM and Hardy, JA and Rosenberg, NA and Singleton, AB (2008) Genotype, haplotype and copy-number variation in worldwide human populations. NATURE , 451 (7181) 998 - 1003. 10.1038/nature06742.

Okubadejo, N and Britton, A and Crews, C and Akinyemi, R and Hardy, J and Singleton, A and Bras, J (2008) Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLOS ONE , 3 (10) , Article e3421. 10.1371/journal.pone.0003421. An open access publication. A version is also available from UCL Discovery.

2006

Guerreiro, RJ and Bras, JM and Santana, I and Januario, C and Santiago, B and Morgadinho, AS and Ribeiro, MH and Hardy, J and Singleton, A and Oliveira, C (2006) Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurology , 6 , Article 24. 10.1186/1471-2377-6-24. An open access publication. A version is also available from UCL Discovery.

2005

Bras, JM and Guerreiro, RJ and Ribeiro, MH and Januario, C and Morgadinho, A and Oliveira, CR and Cunha, L and Hardy, J and Singleton, A (2005) G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. MOVEMENT DISORD , 20 (12) 1653 - 1655.

This list was generated on Tue May 21 01:46:11 2013 BST.