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Number of items: 100.
Article
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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Balint, B;
Guerreiro, R;
Carmona, S;
Dehghani, N;
Latorre, A;
Cordivari, C;
Bhatia, KP;
(2020)
KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
European Journal of Neurology
, 27
(8)
pp. 1471-1477.
10.1111/ene.14228.
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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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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;
Bras, JM;
Nalls, MA;
Lewis, PA;
Hernandez, DG;
Singleton, AB;
International Parkinson's Disease Genomics Consortium;
(2018)
Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.
Movement Disorders
10.1002/mds.103.
(In press).
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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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Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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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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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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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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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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Bras, J;
Guerreiro, R;
Ribeiro, M;
Morgadinho, A;
Januario, C;
Dias, M;
Calado, A;
... 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.
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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.
10.1093/hmg/dds089.
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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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Charlesworth, G;
Plagnol, V;
Holmström, KM;
Bras, J;
Sheerin, UM;
Preza, E;
Rubio-Agusti, I;
... Wood, NW; + view all
(2012)
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
The American Journal of Human Genetics
, 91
(6)
1041 - 1050.
10.1016/j.ajhg.2012.10.024.
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Chaudhury, S;
Brookes, KJ;
Patel, T;
Fallows, A;
Guetta-Baranes, T;
Turton, JC;
Guerreiro, R;
... Thomas, AJ; + view all
(2019)
Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.
Translational Psychiatry
, 9
, Article 154. 10.1038/s41398-019-0485-7.
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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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Cheshire, P;
Bertram, K;
Ling, H;
O'Sullivan, SS;
Halliday, G;
McLean, C;
Bras, J;
... Williams, DR; + view all
(2014)
Influence of single nucleotide polymorphisms in COMT, MAO-A and BDNF genes on dyskinesias and levodopa use in Parkinson's disease.
Neurodegenerative Diseases
, 13
(1)
pp. 24-28.
10.1159/000351097.
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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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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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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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Ganos, C;
Bras, J;
(2017)
Ataxia With Oculomotor Apraxia Is Associated With the DNA Damage Repair Pathway.
Movement Disorders
, 32
(5)
p. 720.
10.1002/mds.26971.
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Gazzina, S;
Grassi, M;
Premi, E;
Cosseddu, M;
Alberici, A;
Archetti, S;
Gasparotti, R;
... Genetic FTD Initiative, GENFI, .; + view all
(2019)
Education modulates brain maintenance in presymptomatic frontotemporal dementia.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2019-320439.
(In press).
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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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Giri, A;
Mok, KY;
Jansen, I;
Sharma, M;
Tesson, C;
Mangone, G;
Lesage, S;
... Simon-Sanchez, J; + view all
(2017)
Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Neurobiology of Aging
, 50
, Article 167. 10.1016/j.neurobiolaging.2016.10.004.
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Guelfi, S;
D'Sa, K;
Botía, JA;
Vandrovcova, J;
Reynolds, RH;
Zhang, D;
Trabzuni, D;
... Ryten, M; + view all
(2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Nature Communications
, 11
, Article 1041. 10.1038/s41467-020-14483-x.
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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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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;
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;
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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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;
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, R;
Escott-Price, V;
Hernandez, DG;
Kun-Rodrigues, C;
Ross, OA;
Orme, T;
Neto, JL;
... Bras, J; + view all
(2019)
Heritability and genetic variance of dementia with Lewy bodies.
Neurobiology of Disease
, 127
pp. 492-501.
10.1016/j.nbd.2019.04.004.
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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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Guerreiro, R;
Orme, T;
Neto, JL;
Bras, J;
International DLB Genetics Consortium, .;
(2018)
LRP10 in alpha-synucleinopathies.
Lancet Neurology
, 17
(12)
pp. 1032-1033.
10.1016/S1474-4422(18)30399-5.
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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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Guerreiro, RJ;
Bras, JM;
Santana, I;
Januario, C;
Santiago, B;
Morgadinho, AS;
Ribeiro, MH;
... 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.
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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;
Bilgic, B;
Tufekcioglu, Z;
Erginel Unaltuna, N;
Hanagasi, H;
Gurvit, H;
Singleton, A;
... Lohmann, E; + view all
(2019)
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia.
Journal of Alzheimer's Disease
, 67
(1)
pp. 159-167.
10.3233/JAD-180599.
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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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Habib, A;
Okorokov, A;
Hill, M;
Bras, J;
Lee, M-C;
Li, S;
Gossage, S;
... Cox, J; + view all
(2019)
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.
British Journal of Anaesthesia
, 123
(2)
e249-e253.
10.1016/j.bja.2019.02.019.
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Habib, AM;
Matsuyama, A;
Okorokov, AL;
Santana, S;
Bras, JT;
Aloisi, AM;
Emery, EC;
... Cox, JJ; + view all
(2018)
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Brain
, 141
(2)
pp. 365-376.
10.1093/brain/awx326.
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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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Heller, C;
Foiani, MS;
Moore, K;
Convery, R;
Bocchetta, M;
Neason, M;
Cash, DM;
... GENFI; + view all
(2020)
Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2019-321954.
(In press).
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Iwaki, Hirotaka;
Blauwendraat, Cornelis;
Makarious, Mary B;
Bandrés‐Ciga, Sara;
Leonard, Hampton L;
Gibbs, J Raphael;
Hernandez, Dena G;
... Sadykova, Dinara; + view all
(2020)
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.
Movement Disorders
, 35
(5)
pp. 774-780.
10.1002/mds.27974.
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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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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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Kojovic, M;
Sheerin, UM;
Rubio-Agusti, I;
Saha, A;
Bras, J;
Gibbons, V;
Palmer, R;
... Bhatia, KP; + view all
(2012)
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
Mov Disord
, 27
(14)
pp. 1829-1830.
10.1002/mds.25199.
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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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Kun-Rodrigues, C;
Orme, T;
Carmona, S;
Hernandez, DG;
Ross, OA;
Eicher, JD;
Shepherd, C;
... Bras, J; + view all
(2019)
A comprehensive screening of copy number variability in dementia with Lewy bodies.
Neurobiology of Aging
, 75
, Article 223.e1-223.e10. 10.1016/j.neurobiolaging.2018.10.019.
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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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Kunkle, BW;
Grenier-Boley, B;
Sims, R;
Bis, JC;
Damotte, V;
Naj, AC;
Boland, A;
... Pericak-Vance, MA; + view all
(2019)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nature Genetics
, 51
pp. 414-430.
10.1038/s41588-019-0358-2.
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Lane, CA;
Parker, TD;
Cash, DM;
Macpherson, K;
Donnachie, E;
Murray-Smith, H;
Barnes, A;
... Schott, JM; + view all
(2017)
Study protocol: Insight 46 - a neuroscience sub-study of the MRC National Survey of Health and Development.
BMC Neurology
, 17
, Article 75. 10.1186/s12883-017-0846-x.
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Leonenko, G;
Sims, R;
Shoai, M;
Frizzati, A;
Bossu, P;
Spalletta, G;
Fox, NC;
... Munger, R; + view all
(2019)
Polygenic risk and hazard scores for Alzheimer's disease prediction.
Annals of Clinical and Translational Neurology
, 6
(3)
pp. 456-465.
10.1002/acn3.716.
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Lubbe, SJ;
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