Browse by UCL people
Group by: Type | Date
Number of items: 72.
2019
Guerreiro, R;
Orme, T;
Naj, AC;
Kuzma, AB;
Schellenberg, GD;
Bras, J;
(2019)
Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?
[Letter].
Neuropathology and Applied Neurobiology
, 45
(2)
pp. 187-189.
10.1111/nan.12517.
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2018
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Anttila, V;
Bulik-Sullivan, B;
Finucane, HK;
Walters, RK;
Bras, J;
Duncan, L;
Escott-Price, V;
... Neale, BM; + view all
(2018)
Analysis of shared heritability in common disorders of the brain.
Science
, 360
(6395)
, Article eaap8757. 10.1126/science.aap8757.
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Blauwendraat, C;
Reed, X;
Kia, DA;
Gan-Or, Z;
Lesage, S;
Pihlstrøm, L;
Guerreiro, R;
... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all
(2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA Neurology
10.1001/jamaneurol.2018.1885.
(In press).
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Brookes, KJ;
McConnell, G;
Williams, K;
Chaudhury, S;
Madhan, G;
Patel, T;
Turley, C;
... Morgan, K; + view all
(2018)
Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort.
Journal of Alzheimer's Disease
, 64
(2)
pp. 355-362.
10.3233/JAD-180191.
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Camargos, S;
Guerreiro, R;
Bras, J;
Mageste, LS;
(2018)
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family.
Neurology Genetics
, 4
(1)
, Article e215. 10.1212/NXG.0000000000000215.
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Carmona, S;
Marecos, C;
Amorim, M;
Ferreira, AC;
Conceição, C;
Brás, J;
Duarte, ST;
(2018)
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.
Neurology Genetics
, 4
(5)
, Article e273. 10.1212/NXG.0000000000000273.
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Carmona, S;
Zahs, K;
Wu, E;
Dakin, K;
Bras, J;
Guerreiro, R;
(2018)
The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders.
Lancet Neurology
, 17
(8)
pp. 721-730.
10.1016/S1474-4422(18)30232-1.
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Chaudhury, S;
Patel, T;
Barber, IS;
Guetta-Baranes, T;
Brookes, KJ;
Chappell, S;
Turton, J;
... Morgan, K; + view all
(2018)
Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease.
Neurobiology of Aging
, 62
244.e1-244.e8.
10.1016/j.neurobiolaging.2017.09.035.
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Guerreiro, R;
Ross, OA;
Kun-Rodrigues, C;
Hernandez, DG;
Orme, T;
Eicher, JD;
Shepherd, CE;
... Bras, J; + view all
(2018)
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
The Lancet Neurology
, 17
(1)
pp. 64-74.
10.1016/S1474-4422(17)30400-3.
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Hartl, D;
May, P;
Gu, W;
Mayhaus, M;
Pichler, S;
Spaniol, C;
Glaab, E;
... AESG; + view all
(2018)
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.
Molecular Psychiatry
10.1038/s41380-018-0091-8.
(In press).
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Kucukkilic, E;
Brookes, K;
Barber, I;
Guetta-Baranes, T;
Morgan, K;
Hollox, EJ;
(2018)
Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease.
Human Genetics
, 137
(4)
pp. 305-314.
10.1007/s00439-018-1883-2.
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Orme, T;
Guerreiro, R;
Bras, J;
(2018)
The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.
Current Neurology and Neuroscience Reports
, 18
(10)
, Article 67. 10.1007/s11910-018-0874-y.
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Pasanen, P;
Myllykangas, L;
Pöyhönen, M;
Kiviharju, A;
Siitonen, M;
Hardy, J;
Bras, J;
... Verkkoniemi-Ahola, A; + view all
(2018)
Genetics of dementia in a Finnish cohort.
Eur J Hum Genet
10.1038/s41431-018-0117-3.
(In press).
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Patel, T;
Brookes, KJ;
Turton, J;
Chaudhury, S;
Guetta-Baranes, T;
Guerreiro, R;
Bras, J;
... Morgan, K; + view all
(2018)
Whole‐exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.
Neuropathology and Applied Neurobiology
, 44
(5)
pp. 506-521.
10.1111/nan.12452.
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Rusbridge, C;
Salguero, FJ;
David, MA;
Faller, KME;
Bras, JT;
Guerreiro, RJ;
Richard-Londt, AC;
... Tayebi, M; + view all
(2018)
An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers.
Frontiers in Aging Neuroscience
, 10
, Article 7. 10.3389/fnagi.2018.00007.
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Sassi, C;
Nalls, MA;
Ridge, PG;
Gibbs, JR;
Lupton, MK;
Troakes, C;
Lunnon, K;
... Hardy, J; + view all
(2018)
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Neurobiology Aging
10.1016/j.neurobiolaging.2018.01.015.
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2017
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Barber, IS;
Braae, A;
Clement, N;
Patel, T;
Guetta-Baranes, T;
Brookes, K;
Medway, C;
... ARUK Consortium, .; + view all
(2017)
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.
Neurobiology of Aging
, 49
215.e1-215.e8.
10.1016/j.neurobiolaging.2016.09.008.
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Beesley, C;
Guerreiro, RJ;
Bras, JT;
Williams, RE;
Taratuto, AL;
Eltze, C;
Mole, SE;
(2017)
CLN8 disease caused by large genomic deletions.
Molecular Genetics & Genomic Medicine
, 5
(1)
pp. 85-91.
10.1002/mgg3.263.
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Blauwendraat, C;
Faghri, F;
Pihlstrom, L;
Geiger, JT;
Elbaz, A;
Lesage, S;
Corvol, J-C;
... Scholz, S; + view all
(2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Neurobiology of Aging
, 57
247.e9-247.e13.
10.1016/j.neurobiolaging.2017.05.009.
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Carmona, S;
Kun-Rodrigues, C;
Brás, J;
Guerreiro, R;
(2017)
Revisiting the genetics of APOE.
Sinapse
, 17
(2)
pp. 27-36.
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Carrasquillo, MM;
Allen, M;
Burgess, JD;
Wang, X;
Strickland, SL;
Aryal, S;
Siuda, J;
... Ertekin-Taner, N; + view all
(2017)
A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression.
Alzheimer's & Dementia
, 13
(6)
pp. 663-673.
10.1016/j.jalz.2016.10.005.
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Darwent, L;
Carmona, S;
Lohmann, E;
Guven, G;
Kun-Rodrigues, C;
Bilgic, B;
Hanagasi, H;
... Guerreiro, R; + view all
(2017)
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.
Neurobiology of Aging
, 58
240.e1-240.e3.
10.1016/j.neurobiolaging.2017.06.019.
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Geissler, JM;
International Parkinson Disease Genomics Consortium members;
Romanos, M;
Gerlach, M;
Berg, D;
Schulte, C;
(2017)
No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs.
ADHD Attention Deficit and Hyperactivity Disorders
, 9
(2)
pp. 121-127.
10.1007/s12402-017-0219-8.
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Jansen, IE;
Ye, H;
Heetveld, S;
Lechler, MC;
Michels, H;
Seinstra, RI;
Lubbe, SJ;
... Heutink, P; + view all
(2017)
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Genome Biology
, 18
, Article 22. 10.1186/s13059-017-1147-9.
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Kun-Rodrigues, C;
Ross, OA;
Orme, T;
Shepherd, C;
Parkkinen, L;
Darwent, L;
Hernandez, D;
... Bras, J; + view all
(2017)
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.
Neurobiology of Aging
, 49
214.e13-214.e15.
10.1016/j.neurobiolaging.2016.08.023.
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Ngoh, A;
Bras, J;
Guerreiro, R;
McTague, A;
Ng, J;
Meyer, E;
Chong, WK;
... Kurian, MA; + view all
(2017)
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor and other Hyperkinetic Movements
, 7
10.7916/D8Q52VBV.
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Pasanen, P;
Mäkinen, J;
Myllykangas, L;
Guerreiro, R;
Bras, J;
Valori, M;
Viitanen, M;
... Baumann, P; + view all
(2017)
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
Acta Neurologica Scandinavica
, 136
(1)
pp. 59-63.
10.1111/ane.12697.
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Renaud, M;
Tranchant, C;
Torres Martin, JV;
Mochel, F;
Synofzik, M;
van de Warrenburg, B;
Pandolfo, M;
... the Working Group, RADIAL; + view all
(2017)
Recessive Ataxia Diagnosis Algorithm for the Next Generation Sequencing Era.
Annals of Neurology
, 82
(6)
pp. 892-899.
10.1002/ana.25084.
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Ridge, PG;
Karch, CM;
Hsu, S;
Arano, I;
Teerlink, CC;
Ebbert, MTW;
Gonzalez Murcia, JD;
... Alzheimer’s Disease Neuroimaging Initiative, .; + view all
(2017)
Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience.
Genome Medicine
, 9
, Article 100. 10.1186/s13073-017-0486-1.
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Siitonen, M;
Börjesson-Hanson, A;
Pöyhönen, M;
Ora, A;
Pasanen, P;
Bras, J;
Kern, S;
... Louro Guerreiro, RJ; + view all
(2017)
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.
[Letter].
Brain
, 140
(5)
, Article e29. 10.1093/brain/awx062.
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Sims, R;
van der Lee, SJ;
Naj, AC;
Bellenguez, C;
Badarinarayan, N;
Jakobsdottir, J;
Kunkle, BW;
... Schellenberg, GD; + view all
(2017)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nature Genetics
, 49
pp. 1373-1384.
10.1038/ng.3916.
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Witoelar, A;
Jansen, IE;
Wang, Y;
Desikan, RS;
Gibbs, JR;
Blauwendraat, C;
Thompson, WK;
... International Parkinson’s Disease Genomics Consortium (IPDGC), N, .; + view all
(2017)
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.
JAMA Neurology
, 74
(7)
pp. 780-792.
10.1001/jamaneurol.2017.0469.
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2016
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Almeida, MR;
Letra, L;
Pires, P;
Santos, A;
Rebelo, O;
Guerreiro, R;
van der Zee, J;
... Santana, I; + view all
(2016)
Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene.
Neurobiology of Aging
, 40
191.e1-191.e8.
10.1016/j.neurobiolaging.2015.12.015.
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Bras, J;
Djaldetti, R;
Alves, AM;
Mead, S;
Darwent, L;
Lleo, A;
Luis Molinuevo, J;
... Guerreiro, R; + view all
(2016)
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.
Neurobiology of Aging
, 46
236.e1-236.e6.
10.1016/j.neurobiolaging.2016.06.018.
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Faller, KM;
Bras, J;
Sharpe, SJ;
Anderson, GW;
Darwent, L;
Kun-Rodrigues, C;
Alroy, J;
... Guerreiro, RJ; + view all
(2016)
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
Journal of Neuroscience Research
, 94
(4)
pp. 339-347.
10.1002/jnr.23710.
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Guerreiro, R;
Brás, J;
Batista, S;
Pires, P;
Ribeiro, MH;
Almeida, MR;
Oliveira, C;
... Santana, I; + view all
(2016)
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.
Genes, Brain and Behaviour
, 15
(7)
pp. 669-677.
10.1111/gbb.12308.
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Guerreiro, R;
Escott-Price, V;
Darwent, L;
Parkkinen, L;
Ansorge, O;
Hernandez, DG;
Nalls, MA;
... Bras, J; + view all
(2016)
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.
Neurobiology of Aging
, 38
214.e7-214.e10.
10.1016/j.neurobiolaging.2015.10.028.
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Guerreiro, RJ;
Brown, R;
Dian, D;
de Goede, C;
Bras, J;
Mole, SE;
(2016)
Mutation of TBCK causes a rare recessive developmental disorder.
Neurology: Genetics
, 2
(3)
, Article e76. 10.1212/NXG.0000000000000076.
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Guven, G;
Lohmann, E;
Bras, J;
Gibbs, JR;
Gurvit, H;
Bilgic, B;
Hanagasi, H;
... Guerreiro, R; + view all
(2016)
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
PLoS ONE
, 11
(9)
, Article e0162592. 10.1371/journal.pone.0162592.
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Ngoh, A;
Bras, J;
Guerreiro, R;
Meyer, E;
McTague, A;
Dawson, E;
Mankad, K;
... Kurian, MA; + view all
(2016)
RARS2 mutations in a sibship with infantile spasms.
Epilepsia
, 57
(5)
e97-e102.
10.1111/epi.13358.
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Pottier, C;
Ravenscroft, TA;
Brown, PH;
Finch, NA;
Baker, M;
Parsons, M;
Asmann, YW;
... Rademakers, R; + view all
(2016)
TYROBP genetic variants in early-onset Alzheimer's disease.
Neurobiology of Aging
, 48
222.e9-222.e15.
10.1016/j.neurobiolaging.2016.07.028.
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Ryan, NS;
Nicholas, JM;
Weston, PSJ;
Liang, Y;
Lashley, T;
Guerreiro, R;
Adamson, G;
... Fox, NC; + view all
(2016)
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
LANCET NEUROLOGY
, 15
(13)
pp. 1326-1335.
10.1016/S1474-4422(16)30193-4.
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Sassi, C;
Nalls, MA;
Ridge, PG;
Gibbs, JR;
Ding, J;
Lupton, MK;
Troakes, C;
... Hardy, J; + view all
(2016)
ABCA7 p.G215S as potential protective factor for Alzheimer's disease.
Neurobiology of Aging
10.1016/j.neurobiolaging.2016.04.004.
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Sassi, C;
Ridge, PG;
Nalls, MA;
Gibbs, R;
Ding, J;
Lupton, MK;
Troakes, C;
... Hardy, J; + view all
(2016)
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
PLoS One
, 11
(6)
, Article e0150079. 10.1371/journal.pone.0150079.
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2015
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Boutoleau-Bretonnière, C;
Camuzat, A;
Le Ber, I;
Bouya-Ahmed, K;
Guerreiro, R;
Deruet, AL;
Evrard, C;
... Vercelletto, M; + view all
(2015)
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
J Alzheimers Dis
, 43
(2)
625 - 630.
10.3233/JAD-141512.
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Bras, J;
Darwent, L;
Orme, T;
Hardy, J;
Guerreiro, R;
Alonso, I;
Barbot, C;
... Costa, MM; + view all
(2015)
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
American Journal of Human Genetics
, 96
(3)
474 - 479.
10.1016/j.ajhg.2015.01.005.
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Guerreiro, R;
Bras, J;
Toombs, J;
Heslegrave, A;
Hardy, J;
Zetterberg, H;
(2015)
Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease.
Curr Genet Med Rep
, 3
19 - 25.
10.1007/s40142-014-0062-6.
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Kun-Rodrigues, C;
Ganos, C;
Guerreiro, R;
Schneider, SA;
Schulte, C;
Lesage, S;
Darwent, L;
... Bras, J; + view all
(2015)
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Human Molecula Genetics
, 24
(23)
pp. 6711-6720.
10.1093/hmg/ddv376.
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2014
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Bras, J;
Guerreiro, R;
Darwent, L;
Parkkinen, L;
Ansorge, O;
Escott-Price, V;
Hernandez, DG;
... 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
, 23
(23)
6139 - 6146.
10.1093/hmg/ddu334.
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Escott-Price, V;
Bellenguez, C;
Wang, LS;
Choi, SH;
Harold, D;
Jones, L;
Holmans, P;
... Cardiovascular Health Study (CHS); + view all
(2014)
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
PLoS One
, 9
(6)
, Article e94661. 10.1371/journal.pone.0094661.
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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.
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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
, 35
(11)
2656.e13-2656.e16.
10.1016/j.neurobiolaging.2014.05.013.
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Guerreiro, R;
Hardy, J;
(2014)
Genetics of Alzheimer's Disease.
NEUROTHERAPEUTICS
, 11
(4)
732 - 737.
10.1007/s13311-014-0295-9.
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Guerreiro, R;
Hardy, J;
(2014)
Genetics of Alzheimer's Disease.
Neurotherapeutics
, 11
(4)
pp. 732-737.
10.1007/s13311-014-0295-9.
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Sassi, C;
Guerreiro, R;
Gibbs, R;
Ding, J;
Lupton, MK;
Troakes, C;
Al-Sarraj, S;
... 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.
Neurobiology of Aging
, 35
(12)
2881.e1-2881.e6.
10.1016/j.neurobiolaging.2014.06.002.
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Sassi, C;
Guerreiro, R;
Gibbs, R;
Ding, J;
Lupton, MK;
Troakes, C;
Lunnon, K;
... 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
, 35
(10)
2422.e13-2422.e16.
10.1016/j.neurobiolaging.2014.04.026.
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2013
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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.
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Forabosco, P;
Ramasamy, A;
Trabzuni, D;
Walker, R;
Smith, C;
Bras, J;
Levine, AP;
... 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.
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Guerreiro, R;
Bilgic, B;
Guven, G;
Brás, J;
Rohrer, J;
Lohmann, E;
Hanagasi, H;
... 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.
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Klebe, S;
Golmard, JL;
Nalls, MA;
Saad, M;
Singleton, AB;
Bras, JM;
Hardy, J;
... Wood, NW; + view all
(2013)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Journal of Neurology, Neurosurgery and Psychiatry
, 84
(6)
666 - 673.
10.1136/jnnp-2012-304475.
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2012
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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.
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