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Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

Rita Louro Guerreiro

(Research Fellow)

Rita Louro Guerreiro


I received my B.Sc. in Biomedical Sciences in 2002, my M.S. degree in Biomolecular Methods in 2005, and more recently (2010) my PhD (Hons) from the Coimbra University in Portugal. My PhD work was supervised by Dr. John Hardy and Dr. Catarina Oliveira and was conducted at the Laboratory of Neurogenetics, NIA, NIH, USA. During this time I studied the genetics of dementia, mainly searching for new mutations and new genes underlying Alzheimer’s disease and Frontotemporal dementia. I started working in the Department of Molecular Neuroscience, IoN, UCL in 2010 as a postdoctoral research fellow. My current research interests include the analysis of genetic variability in several neurological diseases (mainly Parkinson and Alzheimer diseases) and more broadly, trying to understand how genetic variants affect the disease process at the molecular level.

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Number of items: 85.

2014

Boutoleau-Bretonnière, C; Camuzat, A; Le Ber, I; Bouya-Ahmed, K; Guerreiro, R; Deruet, AL; ... Vercelletto, M; + view all (2014) A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation. J Alzheimers Dis 10.3233/JAD-141512.

Bras, J; Guerreiro, R; Darwent, L; Parkkinen, L; Ansorge, O; Escott-Price, V; ... Hardy, J; + view all (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies. Hum Mol Genet 10.1093/hmg/ddu334.

Bras, J; Guerreiro, R; Santo, GC; (2014) Mutant ADA2 in Vasculopathies. NEW ENGLAND JOURNAL OF MEDICINE , 371 (5) 479 - 480.

Bras, J; Guerreiro, R; Santo, GC; (2014) Mutant ADA2 in vasculopathies. N Engl J Med , 371 (5) 478 - 480. 10.1056/NEJMc1405506#SA3.

Guerreiro, R; Brás, J; Hardy, J; Singleton, A; (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet , 23 (R1) R47-R53. 10.1093/hmg/ddu203. Green and gold open access
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Guerreiro, R; Brás, J; Wojtas, A; Rademakers, R; Hardy, J; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2014.05.013.

Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. Neurotherapeutics 10.1007/s13311-014-0295-9.

Le Ber, I; De Septenville, A; Guerreiro, R; Bras, J; Camuzat, A; Caroppo, P; ... Brice, A; + view all (2014) Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol Aging 10.1016/j.neurobiolaging.2014.04.010.

Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; ... Hardy, J; + view all (2014) Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2014.06.002.

Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; ... Hardy, J; + view all (2014) Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2014.04.026.

Slattery, C; Beck, J; Harper, L; Adamson, G; Abdi, Z; Uphill, J; ... Mead, S; + view all (2014) Trem2 variants increase risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. J Neurol Neurosurg Psychiatry , 85 (8) e3 - ?. 10.1136/jnnp-2014-308883.7.

Slattery, CF; Beck, JA; Harper, L; Adamson, G; Abdi, Z; Uphill, J; ... Mead, S; + view all (2014) R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia. Alzheimers Dement 10.1016/j.jalz.2014.05.1751.

2013

Ahmed, R; Guerreiro, R; Rohrer, JD; Guven, G; Rossor, MN; Hardy, J; Fox, NC; (2013) A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences , 332 (1-2) pp. 141-144. 10.1016/j.jns.2013.06.007. Green and gold open access
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Benitez, BA; Jin, SC; Guerreiro, R; Graham, R; Lord, J; Harold, D; ... Cruchaga, C; + view all (2013) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2013.12.010.

Cruchaga, C; Karch, CM; Jin, SC; Benitez, BA; Cai, Y; Guerreiro, R; ... Goate, AM; + view all (2013) Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 10.1038/nature12825.

Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; ... Ryten, M; + view all (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging , 34 (12) pp. 2699-2714. 10.1016/j.neurobiolaging.2013.05.001. Green and gold open access
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Guerreiro, R; Bilgic, B; Guven, G; Brás, J; Rohrer, J; Lohmann, E; ... Emre, M; + view all (2013) A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiology of Aging , 34 (12) 2890.e1-2890.e5. 10.1016/j.neurobiolaging.2013.06.005. Green and gold open access
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Guerreiro, R; Bras, JT; Vieira, M; Warrier, V; Agrawal, S; Stewart, H; ... Mole, SE; + view all (2013) CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. European Journal of Paediatric Neurology , 17 (6) pp. 657-660. 10.1016/j.ejpn.2013.04.011.

Guerreiro, R; Brás, J; Hardy, J; (2013) SnapShot: Genetics of Alzheimer's Disease. Cell , 155 (4) 968 - 968.e1. 10.1016/j.cell.2013.10.037.

Guerreiro, R; Hardy, J; (2013) TREM2 and neurodegenerative disease. N Engl J Med , 369 (16) 1569 - 1570.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; ... Houlden, H; + view all (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol , 70 (7) 875 - 882. 10.1001/jamaneurol.2013.698.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; ... Alzheimer Genetic Analysis Group,; + view all (2013) TREM2 variants in Alzheimer's disease. N Engl J Med , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; ... Grp, AGA; + view all (2013) TREM2 Variants in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, RJ; Lohmann, E; Brás, JM; Gibbs, JR; Rohrer, JD; Gurunlian, N; ... Hardy, J; + view all (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.

Harold, D; Abraham, R; Hollingworth, P; Sims, R; Gerrish, A; Hamshere, ML; ... Williams, J; + view all (2013) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet , 45 (6) 712 - ?. 10.1038/ng0613-712a.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; International Parkinson's Disease Genomics Consortium,; Vedernikov, A; ... Williams, NM; + view all (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet , 22 (5) 1039 - 1049. 10.1093/hmg/dds492.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; The International Parkinson's Disease Genomics Consortium (IPDGC),; Vedernikov, A; ... Williams, NM; + view all (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 10.1093/hmg/ddt554.

Holton, P; Ryten, M; Nalls, M; Trabzuni, D; Weale, ME; Hernandez, D; ... Guerreiro, R; + view all (2013) Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet , 77 (2) 85 - 105. 10.1111/ahg.12000.

Lambert, JC; Ibrahim-Verbaas, CA; Harold, D; Naj, AC; Sims, R; Bellenguez, C; ... Amouyel, P; + view all (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 10.1038/ng.2802.

Le Ber, I; Camuzat, A; Guerreiro, R; Bouya-Ahmed, K; Bras, J; Nicolas, G; ... for the French Clinical and Genetic Research Network on FTD/FTD-ALS,; + view all (2013) SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis. JAMA Neurol 10.1001/jamaneurol.2013.3849.

Moskvina, V; Harold, D; Russo, G; Vedernikov, A; Sharma, M; Saad, M; ... Williams, NM; + view all (2013) Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk. JAMA Neurol 10.1001/jamaneurol.2013.448.

Ross, OA; Soto-Ortolaza, AI; Heckman, MG; Verbeeck, C; Serie, DJ; Rayaprolu, S; ... Meschia, JF; + view all (2013) NOTCH3 Variants and Risk of Ischemic Stroke. PLoS One , 8 (9) e75035 - ?. 10.1371/journal.pone.0075035.

2012

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.

Bras, J; Verloes, A; Schneider, SA; Mole, SE; Guerreiro, RJ; (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. Green and gold open access
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Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; ... Wood, NW; + view all (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.

Crehan, H; Holton, P; Wray, S; Pocock, J; Guerreiro, R; Hardy, J; (2012) Complement receptor 1 (CR1) and Alzheimer's disease. Immunobiology , 217 (2) 244 - 250. 10.1016/j.imbio.2011.07.017.

Dobricic, V; Stefanova, E; Jankovic, M; Gurunlian, N; Novakovic, I; Hardy, J; ... Guerreiro, R; + view all (2012) Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiol Aging , 33 (7) 1481.e7 - 1481.12. 10.1016/j.neurobiolaging.2011.12.007.

Gerrish, A; Russo, G; Richards, A; Moskvina, V; Ivanov, D; Harold, D; ... Williams, J; + view all (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis , 28 (2) 377 - 387. 10.3233/JAD-2011-110824.

Guerreiro, RJ; Gustafson, DR; Hardy, J; (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiology of Disease , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025. Green and gold open access
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Guerreiro, RJ; Hardy, J; (2012) TOMM40 Association With Alzheimer Disease Tales of APOE and Linkage Disequilibrium. ARCHIVES OF NEUROLOGY , 69 (10) 1243 - 1244. 10.1001/archneurol.2012.1935.

Guerreiro, RJ; Hardy, J; (2012) TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium. Arch Neurol , 69 (10) 1243 - 1244. 10.1001/archneurol.2012.1935.

Guerreiro, RJ; Lohmann, E; Brás, JM; Gibbs, JR; Rohrer, JD; Gurunlian, N; ... Hardy, J; + view all (2012) Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement. Arch Neurol 1 - 7. 10.1001/archneurol.2013.579.

Guerreiro, RJ; Lohmann, E; Kinsella, E; Brás, JM; Luu, N; Gurunlian, N; ... Singleton, A; + view all (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; Saad, M; Bras, J; Bettella, F; Nicolaou, N; Simón-Sánchez, J; ... Wellcome Trust Case Control Consortium 2 (WTCCC2),; + view all (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.

Lohmann, E; Guerreiro, RJ; Erginel-Unaltuna, N; Gurunlian, N; Bilgic, B; Gurvit, H; ... Singleton, A; + view all (2012) Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging , 33 (8) 1850.e17 - 1850.e27. 10.1016/j.neurobiolaging.2012.02.020.

Matsuki, T; Zaka, M; Guerreiro, R; van der Brug, MP; Cooper, JA; Cookson, MR; ... Howell, BW; + view all (2012) Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One , 7 (2) , Article e31152 . 10.1371/journal.pone.0031152. Green and gold open access
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McNaughton, D; Knight, W; Guerreiro, R; Ryan, N; Lowe, J; Poulter, M; ... Mead, S; + view all (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobioly of Aging , 33 (2) 426.e13 - 426.e21. 10.1016/j.neurobiolaging.2010.10.010. Green and gold open access
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Sheerin, UM; Charlesworth, G; Bras, J; Guerreiro, R; Bhatia, K; Foltynie, T; ... Wood, N; + view all (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

Guerreiro, RJ; Hardy, J; (2011) Alzheimer's disease genetics: lessons to improve disease modelling. BIOCHEM SOC T , 39 910 - 916. 10.1042/BST0390910.

Hardy, J; Guerreiro, R; (2011) A new way APP mismetabolism can lead to Alzheimer's disease. EMBO MOL MED , 3 (5) 247 - 248. 10.1002/emmm.201100139. Gold open access

Hardy, J; Guerreiro, R; Lovestone, S; (2011) Clusterin as an Alzheimer biomarker. Arch Neurol , 68 (11) 1459 - 1460. 10.1001/archneurol.2011.1000.

Hardy, J; Guerreiro, R; Wray, S; Ferrari, R; Momeni, P; (2011) The Genetics of Alzheimer's Disease and Other Tauopathies. J ALZHEIMERS DIS , 23 S33 - S39.

Hollingworth, P; Harold, D; Sims, R; Gerrish, A; Lambert, JC; Carrasquillo, MM; ... EADI1 Consortium,; + view all (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. NAT GENET , 43 (5) 429 - +. 10.1038/ng.803.

Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; ... Williams, J; + view all (2011) Correction: genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One , 6 (2) , Article e13950. 10.1371/journal.pone.0013950. Green and gold open access
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Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... Wellcome Trust Case-Control Consor,; + view all (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.

Pearson, JP; Williams, NM; Majounie, E; Waite, A; Stott, J; Newsway, V; ... Morris, HR; + view all (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J NEUROL , 258 (4) 647 - 655. 10.1007/s00415-010-5815-x.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; ... WTCCC2,; + view all (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. Gold open access

Renton, AE; Majounie, E; Waite, A; Simon-Sanchez, J; Rollinson, S; Gibbs, JR; ... ITALSGEN Consortium,; + view all (2011) A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. NEURON , 72 (2) 257 - 268. 10.1016/j.neuron.2011.09.010.

2010

Beck, JA; Poulter, M; Campbell, TA; Adamson, G; Uphill, JB; Guerreiro, R; ... Mead, S; + view all (2010) PRNP Allelic Series From 19 Years of Prion Protein Gene Sequencing at the MRC Prion Unit. HUM MUTAT , 31 (7) E1551 - E1563. 10.1002/humu.21281.

Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; ... Clarimon, J; + view all (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.

Guerreiro, RJ; Beck, J; Gibbs, JR; Santana, I; Rossor, MN; Schott, JM; ... Hardy, J; + view all (2010) Genetic Variability in CLU and Its Association with Alzheimer's Disease. PLOS ONE , 5 (3) , Article e9510. 10.1371/journal.pone.0009510. Green and gold open access
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Guerreiro, RJ; Washecka, N; Hardy, J; Singleton, A; (2010) A Thorough Assessment of Benign Genetic Variability in GRN and MAPT. HUM MUTAT , 31 (2) E1126 - E1140. 10.1002/humu.21152.

Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; ... Williams, J; + view all (2010) Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease. PLOS ONE , 5 (11) , Article e13950. 10.1371/journal.pone.0013950. Green and gold open access
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Moglia, C; Calvo, A; Lai, SL; Abramzon, Y; Schymick, JC; Guerreiro, RJ; ... Chio, A; + view all (2010) FUS Mutations in a Large Series of Sporadic and Familial ALS. In: NEUROLOGY. (pp. A334 - A334). LIPPINCOTT WILLIAMS & WILKINS

2009

Bras, J; Paisan-Ruiz, C; Guerreiro, R; Ribeiro, MH; Morgadinho, A; Januario, C; ... Singleton, A; + view all (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.

Clarimon, J; Djaldetti, R; Lleo, A; Guerreiro, RJ; Molinuevo, JL; Paisan-Ruiz, C; ... Hardy, J; + view all (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. NEUROBIOL AGING , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Guerreiro, RJ; Vaskov, T; Crews, C; Singleton, A; Hardy, J; (2009) A Case of Dementia With PRNP D178Ncis-129M and No Insomnia. ALZ DIS ASSOC DIS , 23 (4) 415 - 417.

Harold, D; Abraham, R; Hollingworth, P; Sims, R; Gerrish, A; Hamshere, ML; ... Williams, J; + view all (2009) Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. [Corrigendum]. Nature Genetics , 41 (10) 1156 - 1156. 10.1038/ng1009-1156d.

Harold, D; Abraham, R; Hollingworth, P; Sims, R; Gerrish, A; Hamshere, ML; ... Williams, J; + view all (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics , 41 (10) 1088 -1093. 10.1038/ng.440.

Nalls, MA; Guerreiro, RJ; Simon-Sanchez, J; Bras, JT; Traynor, BJ; Gibbs, JR; ... Singleton, AB; + view all (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; Bras, J; Deas, E; O'Sullivan, SS; Parkkinen, L; Lachmann, RH; ... Wood, NW; + view all (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044. Gold open access

Neumann, J; Parkkinen, L; Bras, J; O'sullivan, SS; Deas, E; Lachmann, H; ... Wood, NW; + view all (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING

Rohrer, JD; Guerreiro, R; Vandrovcova, J; Uphill, J; Reiman, D; Beck, J; ... Rossor, MN; + view all (2009) The heritability and genetics of frontotemporal lobar degeneration. NEUROLOGY , 73 (18) 1451 - 1456.

Rollinson, S; Rizzu, P; Sikkink, S; Baker, M; Halliwell, N; Snowden, J; ... Pickering-Brown, SM; + view all (2009) Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. NEUROBIOL AGING , 30 (4) 656 - 665. 10.1016/j.neurobiolaging.2009.01.009.

2008

Bras, J; Guerreiro, R; Ribeiro, M; Morgadinho, A; Januario, C; Dias, M; ... Singleton, A; + view all (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. Green and gold open access
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Camargos, S; Scholz, S; Simon-Sanchez, J; Paisan-Ruiz, C; Lewis, P; Hernandez, D; ... Singleton, AB; + view all (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; Santana, I; Bras, JM; Revesz, T; Rebelo, O; Ribeiro, MH; ... Hardy, J; + view all (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.

Guerreiro, RJ; Schymick, JC; Crews, C; Singleton, A; Hardy, J; Traynor, BJ; (2008) TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis. PLOS ONE , 3 (6) , Article e2450. 10.1371/journal.pone.0002450. Green and gold open access
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Jakobsson, M; Scholz, SW; Scheet, P; Gibbs, JR; VanLiere, JM; Fung, HC; ... Singleton, AB; + view all (2008) Genotype, haplotype and copy-number variation in worldwide human populations. NATURE , 451 (7181) 998 - 1003. 10.1038/nature06742.

2007

Guerreiro, RJ; Santana, I; Bras, JM; Santiago, B; Paiva, A; Oliveira, C; (2007) Peripheral inflammatory Cytokines as biomarkers in Alzheimer's disease and mild cognitive impairment. NEURODEGENER DIS , 4 (6) 406 - 412. 10.1159/000107700.

2006

Bras, JM; Guerreiro, RJ; Morgadinho, AS; Januario, C; Oliveira, CR; Singleton, A; (2006) Genes and Parkinson's disease - A clinic-based study in a Portuguese cohort. In: MOVEMENT DISORDERS. (pp. S53 - S53). WILEY-LISS

Guerreiro, RJ; Bras, JM; Santana, I; Januario, C; Santiago, B; Morgadinho, AS; ... Oliveira, C; + view all (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. Green and gold open access
file

2005

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

Morgadinho, AS; Bras, JM; Guerreiro, R; Garrucho, MH; Januario, C; Oliveira, C; Cunha, L; (2005) Parkinson's disease and apolipoprotein E genotype: Possible association? In: MOVEMENT DISORDERS. (pp. S145 - S145). WILEY-LISS

2004

Santana, I; Guerreiro, R; Paiva, A; Sarmento, A; Santiago, B; Barbosa, V; Oliveira, C; (2004) Inflammation in mild cognitive impairment and mild Alzheimer's disease. In: NEUROBIOLOGY OF AGING. (pp. S534 - S534). ELSEVIER SCIENCE INC

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