| Title | Authors (identified) | Published In | Identifier(s) | Topic | Published Date |
|---|
| Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation | [1]Miguel Tábuas-Pereira, [2]Rita Guerreiro, [3]Célia Kun-Rodrigues, [4]Maria R Almeida, [5]Jose Bras, [6]Isabel Santana [Full author list] | Neurogenetics [curation] | DOI: 10.1007/S10048-022-00699-0
| | 2022-09-17 |
| Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia | [1]Mariana Santos, [2]J Damásio, [3]Susana Carmona, [4]João Luís Neto, [5]Nadia Dehghani, [6]Jorge Sequeiros, [7]Clara Barbot, [8]José Barros, [9]José Brás, [10]Jorge Sequeiros, [11]Rita Guerreiro [Full author list] | Cells [curation] | DOI: 10.3390/CELLS11060981
| | 2022-03-14 |
| A comprehensive analysis of copy number variation in a Turkish dementia cohort | [1]Nadia Dehghani, [2]Gamze Guven, [3]Celia Kun-Rodrigues, [4]Catarina Gouveia, [5]Kalina Foster, [6]Hasmet Hanagasi, [7]Ebba Lohmann, [8]Bedia Samanci, [9]Hakan Gurvit, [10]Basar Bilgic, [11]Jose Bras, [12]Rita Guerreiro [Full author list] | Human genomics [curation] | DOI: 10.1186/S40246-021-00346-Z
| | 2021-07-28 |
| Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype | [1]Mariana Santos, [2]Joana Damásio, [3]Célia Kun-Rodrigues, [4]Clara Barbot, [5]Jorge Sequeiros, [6]José Brás, [7]Isabel Alonso, [8]Rita Guerreiro [Full author list] | Journal of Clinical Medicine [curation] | DOI: 10.3390/JCM9041212
PubMed: 32340215 | cerebellar ataxia [curation]; apraxia [curation] | 2020-04-23 |
| Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies | [1]Tatiana Orme, [2]Dena G. Hernandez, [3]Owen A. Ross, [4]Celia Kun-Rodrigues, [5]Lee Darwent, [6]Claire E Shepherd, [7]Laura Parkkinen, [8]Olaf Ansorge, [9]Lorraine Clark, [10]Lawrence S Honig, ..., [49]John Hardy, [50]Andrew Singleton, [51]Rita Guerreiro, [52]Jose Bras [Full author list] | Acta Neuropathologica Communications [curation] | DOI: 10.1186/S40478-020-0879-Z
PubMed: 31996268 | dementia with Lewy bodies [curation] | 2020-01-29 |
| A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia | [1]Thomas M Piers, [2]Katharina Cosker, [3]Anna Mallach, [4]Gabriel Thomas Johnson, [5]Rita Guerreiro, [6]John Hardy, [7]Jennifer M Pocock [Full author list] | FASEB Journal [curation] | DOI: 10.1096/FJ.201902447R
PubMed: 31907987 | microglia [curation] | 2019-12-23 |
| An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids | [1]Christina Sundal, [2]Susana Carmona, [3]Maria Yhr, [4]Odd Almström, [5]Maria Ljungberg, [6]John Hardy, [7]Carola Hedberg-Oldfors, [8]Åsa Fred, [9]Jose Bras, [10]Anders Oldfors, [11]Oluf Andersen, [12]Rita Guerreiro [Full author list] | Acta Neuropathologica Communications [curation] | DOI: 10.1186/S40478-019-0843-Y
PubMed: 31775912 | Hereditary diffuse leukoencephalopathy with spheroids [curation] | 2019-11-27 |
| Correction: Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment. | [1]Sultan Chaudhury, [2]Keeley Brookes, [3]Tulsi Patel, [4]Abigail Fallows, [5]Tamar Guetta-Baranes, [6]James C Turton, [7]Rita Guerreiro, [8]Jose Bras, [9]John Anthony Hardy, [10]Paul T Francis, [11]Rebecca Croucher, [12]Clive Holmes, [13]Kevin Morgan [Full author list] | Translational Psychiatry [curation] | DOI: 10.1038/S41398-019-0503-9
PubMed: 31186402 | mild cognitive impairment [curation] | 2019-06-11 |
| Heritability and genetic variance of dementia with Lewy bodies | [1]Rita Guerreiro, [2]Valentina Escott-Price, [3]Dena G. Hernandez, [4]Celia Kun-Rodrigues, [5]Owen A Ross, [6]Tatiana Orme, [7]Joao Luis Neto, [8]Susana Carmona, [9]Nadia Dehghani, [10]John D Eicher, ... [Full author list] | Neurobiology of Disease [curation] | DOI: 10.1016/J.NBD.2019.04.004
PubMed: 30953760 | heritability [curation]; dementia with Lewy bodies [curation] | 2019-04-03 |
| 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 | [1]Gamze Guven, [2]Basar Bilgic, [3]Zeynep Tüfekçioğlu, [4]Nihan Erginel Unaltuna, [5]Hasmet Hanagasi, [6]Hakan Gürvit, [7]Andrew Singleton, [8]John Hardy, [9]Murat Emre, [10]Cagri Gulec, [11]Jose Bras, [12]Rita Guerreiro, [13]Ebba Lohmann [Full author list] | Journal of Alzheimer's Disease [curation] | DOI: 10.3233/JAD-180599
PubMed: 30475763 | frontotemporal dementia [curation] | 2019-01-08 |
| Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers? | [1]Rita Guerreiro, [2]T Orme, [3]A C Naj, [4]A B Kuzma, [5]G D Schellenberg, [6]J Bras [Full author list] | Neuropathology and Applied Neurobiology [curation] | DOI: 10.1111/NAN.12517
PubMed: 30229991 | Alzheimer's disease [curation] | 2018-10-24 |
| A comprehensive screening of copy number variability in dementia with Lewy bodies | [1]Celia Kun-Rodrigues, [2]Tatiana Orme, [3]Susana Carmona, [4]Dena G. Hernandez, [6]John D Eicher, [7]Claire E Shepherd, [8]Laura Parkkinen, [9]Lee Darwent, [10]Michael G Heckman, ..., [65]Andrew Singleton, [66]David J Stone, [67]Rita Guerreiro, [68]Jose Bras [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2018.10.019
PubMed: 30448004 | dementia with Lewy bodies [curation] | 2018-10-24 |
| splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria | [1]Susana Carmona, [2]Clara Marecos, [3]Marta Amorim, [4]Ana C Ferreira, [5]Carla Conceição, [6]José Brás, [7]Sofia T Duarte, [8]Rita Guerreiro [Full author list] | Neurology. Genetics [curation] | DOI: 10.1212/NXG.0000000000000273
PubMed: 30283821 | polymicrogyria [curation] | 2018-10-01 |
| The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions | [1]Tatiana Orme, [2]Rita Guerreiro, [3]Jose Bras [Full author list] | Current Neurology and Neuroscience Reports [curation] | DOI: 10.1007/S11910-018-0874-Y
PubMed: 30097731 | dementia [curation]; dementia with Lewy bodies [curation] | 2018-08-10 |
| Analysis of shared heritability in common disorders of the brain | [1]The Brainstorm Consortium, [2]Verneri Anttila, [3]Brendan Bulik-Sullivan, [4]Hilary K Finucane, [5]Raymond K Walters, [6]Jose Bras, [7]Laramie Duncan, [8]Valentina Escott-Price, [9]Guido J Falcone, [10]Padhraig Gormley, ..., [554]Martin Dichgans, [555]Stephen Faraone, [556]Rita Guerreiro, [557]Peter Holmans, [558]Kenneth Kendler, ... [Full author list] | Science [curation] | DOI: 10.1126/SCIENCE.AAP8757
PubMed: 29930110 | encephalopathy [curation]; genome-wide association study [curation]; heritability [curation] | 2018-06-21 |
| Genotyping of the Alzheimer’s Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort | [1]Keeley J. Brookes, [2]George McConnell, [3]Kirsty Williams, [4]Sultan Chaudhury, [5]Gaganjit Madhan, [6]Tulsi Patel, [7]Christopher Turley, [8]Tamar Guetta-Baranes, [9]Jose Bras, [10]Rita Guerreiro, [11]John Anthony Hardy, [12]Paul T. Francis, [13]Kevin Morgan [Full author list] | Journal of Alzheimer's Disease [curation] | DOI: 10.3233/JAD-180191
PubMed: 29914034 | dementia [curation]; clinical psychology [curation]; single-nucleotide polymorphism [curation]; genome-wide association study [curation] | 2018-06-19 |
| Genetics of dementia in a Finnish cohort. | [1]Petra Pasanen, [2]Liisa Myllykangas, [3]Minna Pöyhönen, [4]Anna Kiviharju, [5]Maija Siitonen, [6]John Hardy, [7]Jose Bras, [8]Anders Paetau, [9]Pentti J Tienari, [10]Rita Guerreiro, [11]Auli Verkkoniemi-Ahola [Full author list] | European Journal of Human Genetics [curation] | DOI: 10.1038/S41431-018-0117-3
PubMed: 29476165 | dementia [curation] | 2018-02-23 |
| Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. | [1]Celeste Sassi, [2]Michael A Nalls, [3]Perry G Ridge, [4]Jesse R Gibbs, [5]Michelle K Lupton, [6]Claire Troakes, [7]Katie Lunnon, [8]Safa Al-Sarraj, [9]Kristelle S Brown, [10]Christopher Medway, ..., [27]Alison M Goate, [28]Andrew Singleton, [29]Rita Guerreiro, [30]Angela Hodges, [31]John Anthony Hardy [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2018.01.015
PubMed: 29544907 | | 2018-02-02 |
| Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. | [1]Sarah Camargos, [2]Rita Guerreiro, [3]Jose Bras, [4]Luis Sergio Mageste [Full author list] | Neurology. Genetics [curation] | DOI: 10.1212/NXG.0000000000000215
PubMed: 29473049 | Brown-Vialetto-Van Laere syndrome [curation] | 2018-01-24 |
| Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience | [1]Perry G Ridge, [2]Celeste M Karch, [3]Simon Hsu, [4]Ivan Arano, [5]Craig C Teerlink, [6]Mark T W Ebbert, [7]Josue D Gonzalez Murcia, [8]James M Farnham, [9]Anna R Damato, [10]Mariet Allen, ..., [12]Oscar Harari, [13]Victoria M Fernandez, [14]Rita Guerreiro, [15]Jose Bras, [16]John Anthony Hardy, ... [Full author list] | Genome Medicine [curation] | DOI: 10.1186/S13073-018-0516-7
PubMed: 29329552 | Alzheimer's disease [curation]; whole genome sequencing [curation] | 2018-01-12 |
| The genetic landscape of Alzheimer disease. | [1]Susana Carmona, [2]John Anthony Hardy, [3]Rita Guerreiro [Full author list] | Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn [curation] | DOI: 10.1016/B978-0-444-64076-5.00026-0
PubMed: 29478590 | | 2018-01-01 |
| Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study | [1]Rita Guerreiro, [2]Owen A. Ross, [3]Celia Kun-Rodrigues, [4]Dena G. Hernandez, [5]Tatiana Orme, [6]John D Eicher, [7]Claire E Shepherd, [8]Laura Parkkinen, [9]Lee Darwent, [10]Michael G Heckman, ... [Full author list] | Lancet Neurology [curation] | DOI: 10.1016/S1474-4422(17)30400-3
PubMed: 29263008 | dementia [curation]; genome-wide association study [curation]; dementia with Lewy bodies [curation] | 2017-12-16 |
| Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience | [1]Perry G Ridge, [2]Celeste M Karch, [3]Simon Hsu, [4]Ivan Arano, [5]Craig C Teerlink, [6]Mark T W Ebbert, [7]Josue D Gonzalez Murcia, [8]James M Farnham, [9]Anna R Damato, [10]Mariet Allen, ..., [12]Oscar Harari, [13]Victoria M Fernandez, [14]Rita Guerreiro, [15]Jose Bras, [16]John Anthony Hardy, ... [Full author list] | Genome Medicine [curation] | DOI: 10.1186/S13073-017-0486-1
PubMed: 29183403 | Alzheimer's disease [curation]; whole genome sequencing [curation] | 2017-11-29 |
| Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease | [1]Sultan Chaudhury, [2]Tulsi Patel, [3]Imelda S Barber, [4]Tamar Guetta-Baranes, [5]Keeley J Brookes, [6]Sally Chappell, [7]James Turton, [8]Rita Guerreiro, [9]Jose Bras, [10]Dena G. Hernandez, [11]Andrew Singleton, [12]John Anthony Hardy, [13]David Mann, [14]ARUK Consortium, [15]Kevin Morgan [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2017.09.035
PubMed: 29103623 | | 2017-10-10 |
| Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | [1]Rebecca Sims, [3]Adam C Naj, [6]Johanna Jakobsdottir, [7]Brian W Kunkle, [8]Anne Boland, [9]Rachel Raybould, [10]Joshua C Bis, ..., [390]Jose Bras, [391]Rita Guerreiro, [392]Ammar Al-Chalabi, [393]Christopher Shaw, ... [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG.3916
PubMed: 28714976 | Alzheimer's disease [curation]; microglia [curation] | 2017-07-17 |
| Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. | [1]Lee Darwent, [2]Susana Carmona, [3]Ebba Lohmann, [4]Gamze Guven, [5]Celia Kun-Rodrigues, [6]Basar Bilgic, [7]Hasmet Hanagasi, [8]Hakan Gurvit, [10]Meltem Pak, [11]John Anthony Hardy, [12]Andrew Singleton, [13]Jose Bras, [14]Rita Guerreiro [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2017.06.019
PubMed: 28716534 | dementia [curation] | 2017-06-28 |
| NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases | [1]Cornelis Blauwendraat, [2]Faraz Faghri, [3]Lasse Pihlstrom, [4]Joshua T Geiger, [5]Alexis Elbaz, [6]Suzanne Lesage, [7]Jean-Christophe Corvol, [8]Patrick May, [9]Aude Nicolas, [10]Yevgeniya Abramzon, ..., [14]Raffaele Ferrari, [15]Jose Bras, [16]Rita Guerreiro, [17]Julie Williams, [18]Rebecca Sims, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2017.05.009
PubMed: 28602509 | | 2017-05-17 |
| TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus | [1]Adeline Ngoh, [2]Jose Bras, [3]Rita Guerreiro, [4]Amy McTague, [5]Joanne Ng, [6]Esther Meyer, [7]W Kling Chong, [8]Stewart Boyd, [9]Linda MacLellan, [10]Martin Kirkpatrick, [11]Manju A Kurian [Full author list] | Tremor and other hyperkinetic movements [curation] | DOI: 10.7916/D8Q52VBV
PubMed: 28428906 | | 2017-04-13 |
| Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1 | [1]Maija Siitonen, [2]Anne Börjesson-Hanson, [3]Minna Pöyhönen, [4]Ari Ora, [5]Petra Pasanen, [6]Jose Bras, [7]Silke Kern, [8]Jürgen Kern, [9]Oluf Andersen, [10]Horia Stanescu, [11]Robert Kleta, [12]Marc Baumann, [13]Rajesh Kalaria, [14]Hannu Kalimo, [15]Andy Singleton, [16]John Anthony Hardy, [17]Matti Viitanen, [18]Liisa Myllykangas, [19]Rita Guerreiro [Full author list] | Brain [curation] | DOI: 10.1093/BRAIN/AWX062
PubMed: 28369186 | Sweden [curation]; multi-infarct dementia [curation] | 2017-03-28 |
| Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series | [1]Natalie S Ryan, [2]Jennifer M Nicholas, [3]Philip S J Weston, [4]Yuying Liang, [5]Tammaryn Lashley, [6]Rita Guerreiro, [7]Gary Adamson, [8]Janna Kenny, [9]Jon Beck, [10]Lucia Chavez-Gutierrez, [11]Bart de Strooper, [12]Tamas Revesz, [13]Janice Holton, [14]Simon Mead, [15]Martin Rossor, [16]Nick C Fox [Full author list] | Lancet Neurology [curation] | DOI: 10.1016/S1474-4422(16)30193-4
PubMed: 27777022 | Alzheimer's disease [curation]; phenotype [curation] | 2016-10-21 |
| Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. | [1]Imelda S Barber, [2]Anne Braae, [3]Naomi Clement, [4]Tulsi Patel, [5]Tamar Guetta-Baranes, [7]Christopher Medway, [8]Sally Chappell, [9]Rita Guerreiro, [10]Jose Bras, [11]Dena G. Hernandez, [12]Andrew Singleton, [13]John Anthony Hardy, [14]David M Mann, [15]ARUK Consortium, [16]Kevin Morgan [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2016.09.008
PubMed: 27776828 | Alzheimer's disease [curation]; early-onset Alzheimer's disease [curation] | 2016-09-23 |
| Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients | [1]Gamze Guven, [2]Ebba Lohmann, [3]Jose Bras, [4]J Raphael Gibbs, [5]Hakan Gurvit, [6]Basar Bilgic, [7]Hasmet Hanagasi, [8]Patrizia Rizzu, [9]Peter Heutink, [10]Murat Emre, [11]Nihan Erginel-Unaltuna, [12]Walter Just, [13]John Anthony Hardy, [14]Andrew Singleton, [15]Rita Guerreiro [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0162592
PubMed: 27632209 | frontotemporal dementia [curation] | 2016-09-15 |
| Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. | [1]Celia Kun-Rodrigues, [2]Owen A. Ross, [3]Tatiana Orme, [4]Claire E Shepherd, [5]Laura Parkkinen, [6]Lee Darwent, [7]Dena G. Hernandez, [8]Olaf Ansorge, [9]Lorraine Clark, [10]Lawrence S Honig, ..., [61]Glenda Halliday, [62]Andrew Singleton, [63]Rita Guerreiro, [64]Jose Bras [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2016.08.023
PubMed: 27666590 | dementia [curation] | 2016-09-02 |
| Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation | [1]Rita Guerreiro, [2]Jose Bras, [3]Sónia Batista, [4]P Pires, [5]M H Ribeiro, [6]Maria R Almeida, [7]Catarina R. Oliveira, [8]J Hardy, [9]Isabel Santana [Full author list] | Genes, Brain and Behavior [curation] | DOI: 10.1111/GBB.12308
PubMed: 27415614 | pseudohypoparathyroidism [curation]; homozygosity [curation] | 2016-08-24 |
| TYROBP genetic variants in early-onset Alzheimer's disease. | [1]Cyril Pottier, [2]Thomas A Ravenscroft, [3]Patricia H Brown, [4]NiCole A Finch, [5]Matt Baker, [6]Meeia Parsons, [7]Yan W Asmann, [8]Yingxue Ren, [9]Elizabeth Christopher, [10]Denise Levitch, ..., [14]Gaël Nicolas, [15]Anne-Claire Richard, [16]Rita Guerreiro, [17]Jose Bras, [18]Stephan Züchner, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2016.07.028
PubMed: 27658901 | | 2016-08-08 |
| Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation | [1]Jose Bras, [2]Ruth Djaldetti, [3]Ana Margarida Alves, [4]Simon Mead, [5]Lee Darwent, [6]Alberto Lleó, [7]José Luis Molinuevo, [8]Rafael Blesa, [9]Andrew Singleton, [10]John Anthony Hardy, [11]Jordi Clarimón, [12]Rita Guerreiro [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2016.06.018
PubMed: 27524508 | Alzheimer's disease [curation]; early-onset Alzheimer's disease [curation]; homozygosity [curation] | 2016-07-04 |
| Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease | [1]Celeste Sassi, [2]Perry G Ridge, [3]Michael A Nalls, [4]Raphael Gibbs, [5]Jinhui Ding, [6]Michelle K Lupton, [7]Claire Troakes, [8]Katie Lunnon, [9]Safa Al-Sarraj, [10]Kristelle S Brown, ..., [20]Alison Goate, [21]Andrew Singleton, [22]Rita Guerreiro, [23]John Anthony Hardy [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0150079
PubMed: 27249223 | Alzheimer's disease [curation] | 2016-06-01 |
| Mutation of TBCK causes a rare recessive developmental disorder | [1]Rita Guerreiro, [2]Rachel Brown, [3]Donnai Dian, [4]Christian G E L de Goede, [5]Jose Bras, [6]Sara E. Mole [Full author list] | Neurology. Genetics [curation] | DOI: 10.1212/NXG.0000000000000076
PubMed: 27275012 | | 2016-05-24 |
| The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families | [1]Michael D Fountain, [2]Emmelien Aten, [3]Megan T Cho, [4]Jane Juusola, [5]Magdalena A Walkiewicz, [6]Joseph W Ray, [7]Fan Xia, [8]Yaping Yang, [9]Brett H Graham, [10]Carlos A Bacino, ..., [28]Beverly Hay, [29]Andrea M Lewis, [30]Rita Guerreiro, [31]Jose Bras, [32]Marcia P Martins, ... [Full author list] | Genetics in Medicine [curation] | DOI: 10.1038/GIM.2016.53
PubMed: 27195816 | Prader-Willi syndrome due to point mutation [curation] | 2016-05-19 |
| ABCA7 p.G215S as potential protective factor for Alzheimer's disease | [1]Celeste Sassi, [2]Michael Marmot, [3]Perry G Ridge, [4]Jesse R Gibbs, [5]Jinhui Ding, [6]Michelle K Lupton, [7]Claire Troakes, [8]Katie Lunnon, [9]Safa Al-Sarraj, [10]Kristelle S Brown, ..., [29]Alison Goate, [30]Andrew Singleton, [31]Rita Guerreiro, [32]John Anthony Hardy [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2016.04.004
PubMed: 27289440 | Alzheimer's disease [curation] | 2016-04-20 |
| Analysis of shared heritability in common disorders of the brain | [1]Verneri Anttila, [2]Brendan Bulik-Sullivan, [3]Hilary Kiyo Finucane, [4]Raymond K Walters, [5]Jose Bras, [6]Laramie Duncan, [7]Valentina Escott-Price, [8]Guido J Falcone, [9]Padhraig Gormley, [10]Rainer Malik, ..., [19]Martin Dichgans, [20]Stephen Faraone, [21]Rita Guerreiro, [22]Peter Holmans, [23]Kenneth Kendler, ... [Full author list] | | DOI: 10.1101/048991
| heritability [curation] | 2016-04-16 |
| RARS2 mutations in a sibship with infantile spasms | [1]Adeline Ngoh, [2]Jose Bras, [3]Rita Guerreiro, [4]Esther Meyer, [5]Amy McTague, [6]Eleanor Dawson, [7]Kshitij Mankad, [8]Roxana Gunny, [9]Peter Clayton, [10]Philippa B Mills, [11]Rachel Thornton, [12]Ming Lai, [13]Rob Forsyth, [14]Manju A Kurian [Full author list] | Epilepsia [curation] | DOI: 10.1111/EPI.13358
PubMed: 27061686 | | 2016-04-08 |
| The clinical syndrome of dystonia with anarthria/aphonia. | [1]Christos Ganos, [2]Belinda Crowe, [3]Maria Stamelou, [4]Nikola Kresojević, [5]Milica Ječmenica Lukić, [6]Jose Bras, [7]Rita Guerreiro, [8]Funmilola Taiwo, [9]Bettina Balint, [10]Amit Batla, [11]Susanne A Schneider, [12]Roberto Erro, [13]Marina Svetel, [14]Vladimir Kostić, [15]Manju A Kurian, [16]Kailash Phatechand Bhatia [Full author list] | Parkinsonism and Related Disorders [curation] | DOI: 10.1016/J.PARKRELDIS.2016.01.022
PubMed: 26924602 | | 2016-01-28 |
| Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene. | [1]Maria R Almeida, [2]Liliana Letra, [3]Paula Pires, [4]Ana Santos, [5]Olinda Rebelo, [6]Rita Guerreiro, [7]Julie van der Zee, [8]Christine Van Broeckhoven, [9]Isabel Santana [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2015.12.015
PubMed: 26839080 | | 2015-12-30 |
| Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease | [1]Imelda S Barber, [2]Jennyfer M García-Cárdenas, [3]Chidchanok Sakdapanichkul, [4]Christopher Deacon, [5]Gabriela Zapata Erazo, [6]Rita Guerreiro, [7]Jose Bras, [8]Dena G. Hernandez, [9]Andrew Singleton, [10]Tamar Guetta-Baranes, [11]Anne Braae, [12]Naomi Clement, [13]Tulsi Patel, [14]Keeley Brookes, [15]Christopher Medway, [16]Sally Chappell, [17]David M Mann, [18]ARUK Consortium, [19]Kevin Morgan [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2015.12.011
PubMed: 26803359 | Alzheimer's disease [curation] | 2015-12-29 |
| Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases | [1]Rita Guerreiro, [2]Valentina Escott-Price, [3]Lee Darwent, [4]Laura Parkkinen, [5]Olaf Ansorge, [6]Dena G. Hernandez, [7]Michael Marmot, [8]Lorraine Clark, [10]Karen S. Marder, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2015.10.028
PubMed: 26643944 | Alzheimer's disease [curation]; Parkinson's disease [curation]; dementia [curation]; dementia with Lewy bodies [curation] | 2015-11-02 |
| The age factor in Alzheimer's disease | [1]Rita Guerreiro, [2]Jose Bras, [2-Q43132633]Jose Bras [Full author list] | Genome Medicine [curation] | DOI: 10.1186/S13073-015-0232-5
PubMed: 26482651 | Alzheimer's disease [curation] | 2015-10-20 |
| A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech. | [1]Charles R Marshall, [2]Rita Guerreiro, [3]Steffi Thust, [4]Phillip Fletcher, [5]Jonathan D Rohrer, [6]Nick C. Fox [Full author list] | Journal of Alzheimer's Disease [curation] | DOI: 10.3233/JAD-150477
PubMed: 26402116 | apraxia [curation]; Corticobasal syndrome [curation] | 2015-09-16 |
| A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease | [1]Célia Kun-Rodrigues, [2]Christos Ganos, [3]Rita Guerreiro, [4]Susanne A Schneider, [5]Claudia Schulte, [6]Suzanne Lesage, [7]Lee Darwent, [8]Peter Holmans, [9]Andrew Singleton, [10]International Parkinson's Disease Genomics Consortium, [11]Kailash Phatechand Bhatia, [12]Jose Bras [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDV376
PubMed: 26362251 | Parkinson's disease [curation] | 2015-09-11 |
| Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease | [1]Suzanne Lesage, [2]Jose Bras, [3]Florence Cormier-Dequaire, [4]Christel Condroyer, [5]Aude Nicolas, [6]Lee Darwent, [7]Rita Guerreiro, [8]Elisa Majounie, [9]Monica Federoff, [10]Peter Heutink, [11]Nicholas W. Wood, [12]Thomas Gasser, [13]John Anthony Hardy, [14]François Tison, [15]Andrew Singleton, [16]Alexis Brice, [17]French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC) [Full author list] | Neurology. Genetics [curation] | DOI: 10.1212/NXG.0000000000000009
PubMed: 27066548 | Parkinson's disease [curation] | 2015-06-18 |
| NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases | [1]Mike A Nalls, [2]Jose Bras, [3]Dena G. Hernandez, [4]Margaux F Keller, [5]Elisa Majounie, [6]Alan Renton, [7]Mohamad Saad, [8]Iris Jansen, [9]Rita Guerreiro, [10]Steven Lubbe, [11]Vincent Plagnol, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2014.07.028
PubMed: 25444595 | neurodegeneration [curation]; data sharing [curation] | 2015-03-01 |
| Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. | [1]Jose Bras, [2]Isabel Alonso, [3]Clara Barbot, [4]Maria Manuela Costa, [5]Lee Darwent, [6]Tatiana Orme, [7]Jorge Sequeiros, [8]John Anthony Hardy, [9]Paula Coutinho, [10]Rita Guerreiro [Full author list] | American Journal of Human Genetics [curation] | DOI: 10.1016/J.AJHG.2015.01.005
PubMed: 25728773 | apraxia [curation] | 2015-02-26 |
| SnapShot: Genetics of ALS and FTD. | [1]Rita Guerreiro, [2]Jose Bras, [3]John Anthony Hardy [Full author list] | Cell [curation] | DOI: 10.1016/J.CELL.2015.01.052
PubMed: 25679767 | amyotrophic lateral sclerosis [curation] | 2015-02-01 |
| A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation | [1]Claire Boutoleau-Bretonnière, [2]Agnès Camuzat, [3]Isabelle Le Ber, [4]Kawtar Bouya-Ahmed, [5]Rita Guerreiro, [6]Anne-Laure Deruet, [7]Christelle Evrard, [8]Jose Bras, [9]Estelle Lamy, [10]Elisabeth Auffray-Calvier, [11]Amandine Pallardy, [12]John Anthony Hardy, [14]Pascal Derkinderen, [15]Martine Vercelletto [Full author list] | Journal of Alzheimer's Disease [curation] | DOI: 10.3233/JAD-141512
PubMed: 25114083 | apraxia [curation]; Apraxia of speech [curation] | 2015-01-01 |
| Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease | [1]Rita Guerreiro, [2]Jose Bras, [3]Jamie Toombs, [4]Amanda Heslegrave, [5]John Anthony Hardy, [6]Henrik Zetterberg [Full author list] | Current genetic medicine reports [curation] | DOI: 10.1007/S40142-014-0062-6
PubMed: 25664224 | Alzheimer's disease [curation]; biomarker [curation] | 2015-01-01 |
| Genetics of Alzheimer's disease | [1]Rita Guerreiro, [2]John Anthony Hardy [Full author list] | Neurotherapeutics [curation] | DOI: 10.1007/S13311-014-0295-9
PubMed: 25113539 | Alzheimer's disease [curation] | 2014-10-01 |
| Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations | [1]Rita Guerreiro, [2]José Brás, [3]John Anthony Hardy, [4]Andrew Singleton [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDU203
PubMed: 24794858 | neurological disorder [curation]; biomedical investigative technique [curation] | 2014-09-15 |
| Mutant ADA2 in vasculopathies | [1]Jose Bras, [2]Rita Guerreiro, [3]Gustavo C Santo [Full author list] | The New England Journal of Medicine [curation] | DOI: 10.1056/NEJMC1405506
PubMed: 25075847 | | 2014-07-31 |
| Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. | [1]Jose Bras, [2]Rita Guerreiro, [3]Lee Darwent, [4]Laura Parkkinen, [5]Olaf Ansorge, [6]Valentina Escott-Price, [7]Dena G. Hernandez, [8]Michael Marmot, [9]Lorraine Clark, [10]Lawrence S Honig, ... [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDU334
PubMed: 24973356 | dementia [curation] | 2014-06-27 |
| Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease | [1]Celeste Sassi, [2]Rita Guerreiro, [3]Raphael Gibbs, [4]Jinhui Ding, [5]Michelle K Lupton, [6]Claire Troakes, [7]Safa Al-Sarraj, [8]Michael Niblock, [9]Jean-Marc Gallo, [10]Jihad Adnan, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2014.06.002
PubMed: 25104557 | Alzheimer's disease [curation]; dementia [curation] | 2014-06-16 |
| Nonsense mutation in PRNP associated with clinical Alzheimer's disease | [1]Rita Guerreiro, [2]José Brás, [3]Aleksandra Wojtas, [4]Rosa Rademakers, [5]John Anthony Hardy, [6]Neill Graff-Radford [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2014.05.013
PubMed: 24958194 | Alzheimer's disease [curation] | 2014-05-27 |
| Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease | [1]Celeste Sassi, [2]Rita Guerreiro, [3]Raphael Gibbs, [4]Jinhui Ding, [5]Michelle K Lupton, [6]Claire Troakes, [7]Katie Lunnon, [8]Safa Al-Sarraj, [9]Kristelle S Brown, [10]Chirstopher Medway, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2014.04.026
PubMed: 24880964 | Alzheimer's disease [curation]; early-onset Alzheimer's disease [curation] | 2014-05-02 |
| Homozygous TREM2 mutation in a family with atypical frontotemporal dementia | [1]Isabelle Le Ber, [2]Anne De Septenville, [3]Rita Guerreiro, [4]Jose Bras, [5]Agnès Camuzat, [6]Paola Caroppo, [7]Serena Lattante, [8]Philippe Couarch, [9]Edor Kabashi, [10]Kawtar Bouya-Ahmed, [11]Bruno Dubois, [12]Alexis Brice [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2014.04.010
PubMed: 24910390 | frontotemporal dementia [curation]; dementia [curation]; homozygosity [curation] | 2014-04-18 |
| Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation | [1]Jose Bras, [2]Rita Guerreiro, [3]James T H Teo, [4]Lee Darwent, [5]Jenny Vaughan, [6]Sophie Molloy, [7]John Hardy, [8]Susanne A Schneider [Full author list] | Movement disorders clinical practice [curation] | DOI: 10.1002/MDC3.12008
PubMed: 30363821 | | 2014-04-10 |
| Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease | [1]Carlos Cruchaga, [2]Celeste M Karch, [3]Sheng Chih Jin, [4]Bruno A Benitez, [5]Yefei Cai, [6]Rita Guerreiro, [7]Oscar Harari, [8]Joanne B Norton, [9]John P Budde, [10]Sarah Bertelsen, ... [Full author list] | Nature [curation] | DOI: 10.1038/NATURE12825
PubMed: 24336208 | Alzheimer's disease [curation] | 2014-01-23 |
| Missense variant in TREML2 protects against Alzheimer's disease | [1]Bruno A Benitez, [2]Sheng Chih Jin, [3]Rita Guerreiro, [4]Rob Graham, [5]Jenny Lord, [6]Denise Harold, [7]Rebecca Sims, [8]Jean-Charles Lambert, [9]J Raphael Gibbs, [10]Jose Bras, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2013.12.010
PubMed: 24439484 | Alzheimer's disease [curation] | 2013-12-21 |
| A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease | [1]Peter Holmans, [2]Valentina Escott-Price, [3]Lesley Jones, [4]Manu Sharma, [5]Alexey Vedernikov, [6]Finja Büchel, [7]Mohamad Saad, [8]Jose Bras, [9]Francesco Bettella, [10]Nayia Nicolaou, ..., [14]Claudia Schulte, [15]Alexandra Durr, [16]Rita Guerreiro, [17]Dena G. Hernandez, [18]Alexis Brice, ... [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDT554
| | 2013-11-13 |
| SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis | [1]Isabelle Le Ber, [2]Agnès Camuzat, [3]Rita Guerreiro, [4]Kawtar Bouya-Ahmed, [5]Jose Bras, [6]Gael Nicolas, [7]Audrey Gabelle, [8]Mira Didic, [9]Anne De Septenville, [10]Stéphanie Millecamps, [11]Timothée Lenglet, [12]Morwena Latouche, [13]Edor Kabashi, [14]Dominique Campion, [15]Didier Hannequin, [16]John Anthony Hardy, [17]Alexis Brice, [18]French Clinical and Genetic Research Network on FTD/FTD-ALS [Full author list] | JAMA Neurology [curation] | DOI: 10.1001/JAMANEUROL.2013.3849
PubMed: 24042580 | frontotemporal dementia [curation]; dementia [curation]; amyotrophic lateral sclerosis [curation]; amyotrophic lateral sclerosis and frontotemporal dementia [curation] | 2013-11-01 |
| SnapShot: genetics of Alzheimer's disease | [1]Rita Guerreiro, [2]Jose Bras, [3]John Anthony Hardy [Full author list] | Cell [curation] | DOI: 10.1016/J.CELL.2013.10.037
PubMed: 24209629 | Alzheimer's disease [curation] | 2013-11-01 |
| Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk | [1]Valentina Escott-Price, [2]Denise Harold, [3]GianCarlo Russo, [4]Alexey Vedernikov, [5]Manu Sharma, [6]Mohamed Saad, [8]Jose Bras, [9]Francesco Bettella, [10]Margaux F Keller, ..., [14]Claudia Schulte, [15]Alexandra Durr, [16]Rita Guerreiro, [17]Dena G. Hernandez, [18]Alexis Brice, ... [Full author list] | JAMA Neurology [curation] | DOI: 10.1001/JAMANEUROL.2013.448
PubMed: 23921447 | Alzheimer's disease [curation]; Parkinson's disease [curation]; genome-wide association study [curation] | 2013-10-01 |
| NOTCH3 variants and risk of ischemic stroke | [1]Owen A. Ross, [2]Alexandra I Soto-Ortolaza, [3]Michael G Heckman, [4]Christophe Verbeeck, [5]Daniel J Serie, [6]Sruti Rayaprolu, [7]Stephen S Rich, [8]Michael A Nalls, [9]Andrew Singleton, [10]Rita Guerreiro, [11]Emma Kinsella, [12]Zbigniew K Wszolek, [13]Thomas G Brott, [14]Robert D Brown, [15]Bradford B Worrall, [16]James F Meschia [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0075035
PubMed: 24086431 | | 2013-09-23 |
| Insights into TREM2 biology by network analysis of human brain gene expression data | [1]Paola Forabosco, [2]Adaikalavan Ramasamy, [3]Daniah Trabzuni, [4]Robert Walker, [5]Colin Smith, [6]Jose Bras, [7]Adam P Levine, [8]John Anthony Hardy, [9]Jennifer M Pocock, [10]Rita Guerreiro, [11]Michael E. Weale, [12]Mina Ryten [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2013.05.001
PubMed: 23855984 | | 2013-07-12 |
| Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene | [1]Rita Guerreiro, [2]Eleanna Kara, [3]Isabelle Le Ber, [4]Jose Bras, [5]Jonathan D Rohrer, [6]Ricardo Taipa, [7]Tammaryn Lashley, [8]Céline Dupuits, [9]Nicole Gurunlian, [10]Fanny Mochel, ... [Full author list] | JAMA Neurology [curation] | DOI: 10.1001/JAMANEUROL.2013.698
PubMed: 23649896 | phenotype [curation] | 2013-07-01 |
| A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids | [1]Rebekah M Ahmed, [2]Rita Guerreiro, [3]Jonathan D Rohrer, [4]Gamze Guven, [5]Martin Rossor, [6]John Anthony Hardy, [7]Nick C. Fox [Full author list] | Journal of the Neurological Sciences [curation] | DOI: 10.1016/J.JNS.2013.06.007
PubMed: 23816250 | | 2013-06-28 |
| Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease | [1]Denise Harold, [2]Richard Abraham, [3]Paul Hollingworth, [4]Rebecca Sims, [5]Amy Gerrish, [6]Marian L Hamshere, [7]Jaspreet Singh Pahwa, [8]Valentina Escott-Price, [9]Kimberley Dowzell, [10]Amy Williams, ..., [72]Magda N. Tsolaki, [73]Andrew Singleton, [74]Rita Guerreiro, [75]Thomas W Mühleisen, [76]Markus M Nöthen, ... [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG0613-712A
| genome-wide association study [curation]; Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease [curation] | 2013-06-01 |
| Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease | [1]Margaux F Keller, [2]Mohamad Saad, [3]Jose Bras, [4]Francesco Bettella, [5]Nayia Nicolaou, [6]Javier Simón Sánchez, [7]Florian Mittag, [8]Finja Büchel, [9]Manu Sharma, [10]J Raphael Gibbs, ..., [14]Peter Holmans, [15]Laura L. Kilarski, [16]Rita Guerreiro, [17]Dena G. Hernandez, [18]Alexis Brice, ... [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDT030
| heritability [curation]; complex trait [curation] | 2013-02-14 |
| Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci | [1]Patrick Holton, [2]Mina Ryten, [3]Michael Marmot, [4]Daniah Trabzuni, [5]Michael E. Weale, [6]Dena G. Hernandez, [7]Helen Crehan, [8]J Raphael Gibbs, [9]Richard Mayeux, [10]Jonathan L Haines, ..., [23]Andrew Singleton, [24]John Anthony Hardy, [25]Rita Guerreiro, [26]Joseph Buxbaum [Full author list] | Annals of Human Genetics [curation] | DOI: 10.1111/AHG.12000
PubMed: 23360175 | Alzheimer's disease [curation] | 2013-01-30 |
| TREM2 variants in Alzheimer's disease | [1]Rita Guerreiro, [2]Aleksandra Wojtas, [3]Jose Bras, [4]Minerva M Carrasquillo, [5]Ekaterina Rogaeva, [6]Elisa Majounie, [7]Carlos Cruchaga, [8]Celeste Sassi, [9]John S.K. Kauwe, [10]Steven G. Younkin, ... [Full author list] | The New England Journal of Medicine [curation] | DOI: 10.1056/NEJMOA1211851
PubMed: 23150934 | Alzheimer's disease [curation] | 2013-01-10 |
| A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease | [1]Peter Holmans, [2]Valentina Escott-Price, [3]Lesley Jones, [4]Manu Sharma, [5]International Parkinson's Disease Genomics Consortium, [6]Alexey Vedernikov, [7]Finja Büchel, [8]Mohamad Saad, [9]Jose Bras, [10]Francesco Bettella, ..., [15]Claudia Schulte, [16]Alexandra Durr, [17]Rita Guerreiro, [18]Dena G. Hernandez, [19]Alexis Brice, ... [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDS492
PubMed: 23223016 | Parkinson's disease [curation] | 2012-12-07 |
| Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. | [1]Margaux F Keller, [2]Mohamad Saad, [3]Jose Bras, [4]Francesco Bettella, [5]Nayia Nicolaou, [6]Javier Simón Sánchez, [7]Florian Mittag, [8]Finja Büchel, [9]Manu Sharma, [10]J Raphael Gibbs, ..., [14]Peter Holmans, [15]Laura L. Kilarski, [16]Rita Guerreiro, [17]Dena G. Hernandez, [18]Alexis Brice, ... [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDS335
PubMed: 22892372 | Parkinson's disease [curation]; heritability [curation]; complex trait [curation] | 2012-08-13 |
| Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease | [1]Jose Bras, [2]Rita Guerreiro, [3]John Anthony Hardy [Full author list] | Nature Reviews Neuroscience [curation] | DOI: 10.1038/NRN3271
PubMed: 22714018 | whole genome sequencing [curation] | 2012-06-20 |
| Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice | [1]Tohru Matsuki, [2]Mariam Zaka, [3]Rita Guerreiro, [4]Marcel P van der Brug, [5]Jonathan A Cooper, [6]Mark R Cookson, [7]John Anthony Hardy, [8]Brian Howell [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0031152
PubMed: 22355340 | phosphorylation [curation] | 2012-02-15 |
| Tau acts as an independent genetic risk factor in pathologically proven PD. | [1]Gavin Charlesworth, [2]Sonia Gandhi, [3]Jose M Bras, [4]Roger A. Barker, [5]David J Burn, [6]Patrick F. Chinnery, [7]Stephen M Gentleman, [8]Rita Guerreiro, [9]John Anthony Hardy, [10]Janice Holton, [11]Andrew John Lees, [12]Karen Morrison, [13]Una-Marie Sheerin, [14]Nigel Williams, [15]Huw Morris, [16]Tamas Revesz, [17]Nicholas W Wood [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2011.11.001
PubMed: 22221882 | risk factor [curation] | 2012-01-04 |
| Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. | [1]Valerija Dobricic, [2]Elka Stefanova, [3]Milena Jankovic, [4]Nicole Gurunlian, [5]Ivana Novakovic, [6]John Anthony Hardy, [7]Vladimir S. Kostić, [8]Rita Guerreiro [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2011.12.007
PubMed: 22221884 | Alzheimer's disease [curation] | 2012-01-04 |
| The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease | [1]Amy Gerrish, [2]Giancarlo Russo, [3]Alexander John Richards, [4]Valentina Escott-Price, [5]Dobril Ivanov, [6]Denise Harold, [7]Rebecca C Sims, [8]Richard Abraham, [9]Paul Hollingworth, [10]Jade Chapman, ..., [77]Magda N. Tsolaki, [78]Andrew Singleton, [79]Rita Guerreiro, [80]Thomas W Mühleisen, [81]Markus M Nöthen, ... [Full author list] | Journal of Alzheimer's Disease [curation] | DOI: 10.3233/JAD-2011-110824
PubMed: 22027014 | Alzheimer's disease [curation] | 2012-01-01 |
| Screening for VPS35 mutations in Parkinson's disease | [1]Una-Marie Sheerin, [2]Gavin Charlesworth, [3]Jose Bras, [4]Rita Guerreiro, [5]Kailash Phatechand Bhatia, [6]Thomas Foltynie, [7]Patricia Limousin, [8]Laura Silveira Moriyama, [9]Andrew John Lees, [10]Nicholas W. Wood [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2011.10.032
PubMed: 22154191 | Parkinson's disease [curation] | 2011-12-07 |
| Clusterin as an Alzheimer biomarker. | [1]John Anthony Hardy, [2]Rita Guerreiro, [3]Simon Lovestone [Full author list] | Archives of Neurology [curation] | DOI: 10.1001/ARCHNEUROL.2011.1000
PubMed: 22084130 | biomarker [curation] | 2011-11-01 |
| Complement receptor 1 (CR1) and Alzheimer's disease | [1]Helen Crehan, [2]Patrick Holton, [3]Selina Wray, [4]Jennifer Pocock, [5]Rita Guerreiro, [6]John Anthony Hardy [Full author list] | Immunobiology [curation] | DOI: 10.1016/J.IMBIO.2011.07.017
PubMed: 21840620 | Alzheimer's disease [curation] | 2011-07-23 |
| A new way APP mismetabolism can lead to Alzheimer's disease | [1]John Anthony Hardy, [2]Rita Guerreiro [Full author list] | EMBO Molecular Medicine [curation] | DOI: 10.1002/EMMM.201100139
PubMed: 21523909 | Alzheimer's disease [curation] | 2011-04-27 |
| 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 | [1]Daniel McNaughton, [2]William Knight, [3]Rita Guerreiro, [4]Natalie Ryan, [5]Jessica Lowe, [6]Mark Poulter, [7]David J Nicholl, [8]John Anthony Hardy, [9]Tamas Revesz, [10]James Lowe, [11]Martin Rossor, [12]John Collinge, [13]Simon Mead [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2010.10.010
PubMed: 21193246 | dementia [curation]; prion protein family [curation] | 2010-12-28 |
| Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease | [1]Lesley Jones, [2]Peter Holmans, [3]Marian L Hamshere, [4]Denise Harold, [5]Valentina Escott-Price, [6]Dobril Ivanov, [7]Andrew Pocklington, [8]Richard Abraham, [9]Paul Hollingworth, [10]Rebecca C Sims, ..., [68]Christopher Shaw, [69]Andrew Singleton, [70]Rita Guerreiro, [71]Thomas W Mühleisen, [72]Markus M Nöthen, ... [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0013950
PubMed: 21085570 | Alzheimer's disease [curation] | 2010-11-15 |
| Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p | [1]Justin P Pearson, [2]Nigel M Williams, [3]Elisa Majounie, [4]Adrian Waite, [5]Jennifer Stott, [6]Victoria Newsway, [7]Alex Murray, [8]Dena G. Hernandez, [9]Rita Guerreiro, [10]Andrew Singleton, [11]James Neal, [12]Huw R Morris [Full author list] | Journal of Neurology [curation] | DOI: 10.1007/S00415-010-5815-X
PubMed: 21072532 | frontotemporal dementia [curation]; dementia [curation]; amyotrophic lateral sclerosis [curation]; amyotrophic lateral sclerosis and frontotemporal dementia [curation] | 2010-11-12 |
| PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit | [1]Jon A Beck, [2]Mark Poulter, [3]Tracy A Campbell, [4]Gary Adamson, [5]James B Uphill, [6]Rita Guerreiro, [7]Graham S Jackson, [8]James C Stevens, [9]Hadi Manji, [10]John Collinge, [11]Simon Mead [Full author list] | Human Mutation [curation] | DOI: 10.1002/HUMU.21281
PubMed: 20583301 | prion protein family [curation] | 2010-07-01 |
| Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease | [1]Denise Harold, [2]Richard Abraham, [3]Paul Hollingworth, [4]Rebecca C Sims, [5]Amy Gerrish, [6]Marian L Hamshere, [7]Jaspreet Singh Pahwa, [8]Valentina Escott-Price, [9]Kimberley Dowzell, [10]Amy Williams, ..., [72]Magda N. Tsolaki, [73]Andrew Singleton, [74]Rita Guerreiro, [75]Thomas W Mühleisen, [76]Markus M Nöthen, ... [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG.440
PubMed: 19734902 | Alzheimer's disease [curation]; genome-wide association study [curation] | 2009-10-01 |
| Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease | [1]Denise Harold, [2]Richard Abraham, [3]Paul Hollingworth, [4]Rebecca Sims, [5]Amy Gerrish, [6]Marian L Hamshere, [7]Jaspreet Singh Pahwa, [8]Valentina Escott-Price, [9]Kimberley Dowzell, [10]Amy Williams, ..., [71]Magda N. Tsolaki, [72]Andrew Singleton, [73]Rita Guerreiro, [74]Thomas W Mühleisen, [75]Markus M Nöthen, ... [Full author list] | Nature Genetics [curation] | DOI: 10.1038/NG1009-1156D
| genome-wide association study [curation]; Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease [curation] | 2009-10-01 |
| Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease | [1]Juliane Neumann, [2]Jose Bras, [3]Emma Deas, [4]S.S. O'Sullivan, [5]Laura Parkkinen, [6]Robin Lachmann, [7]Abi Li, [8]Janice Holton, [9]Rita Guerreiro, [10]Reema Paudel, [11]Badmavady Segarane, [12]Andrew Singleton, [13]Andrew John Lees, [14]John Anthony Hardy, [15]Henry Houlden, [16]Tamas Revesz, [17]Nicholas W. Wood [Full author list] | Brain [curation] | DOI: 10.1093/BRAIN/AWP044
PubMed: 19286695 | Parkinson's disease [curation] | 2009-07-01 |
| Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration | [1]Sara Rollinson, [2]Patrizia Rizzu, [3]Stephen Sikkink, [4]Matthew Baker, [5]Nicola Halliwell, [6]Julie Snowden, [7]Bryan Traynor, [8]Dina Ruano, [9]Nigel J Cairns, [10]Jonathan D Rohrer, ..., [13]Martin Rossor, [14]Ela Akay, [15]Rita Guerreiro, [16]Rosa Rademakers, [17]Karen E Morrison, ... [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2009.01.009
PubMed: 19217189 | risk factor [curation] | 2009-02-12 |
| DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA | [1]Sarah Camargos, [2]Sonja Scholz, [3]Javier Simón-Sánchez, [4]Coro Paisán-Ruíz, [5]Patrick A. Lewis, [6]Dena G. Hernandez, [7]Jinhui Ding, [8]J Raphael Gibbs, [9]Mark R Cookson, [10]Jose Bras, [11]Rita Guerreiro, [12]Catarina R. Oliveira, [13]Andrew John Lees, [14]John Anthony Hardy, [15]Francisco Cardoso, [16]Andrew Singleton [Full author list] | Lancet Neurology [curation] | DOI: 10.1016/S1474-4422(08)70022-X
PubMed: 18243799 | Parkinson's disease [curation] | 2008-03-01 |
| Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2 | [1]Jose Bras, [2]Rita Guerreiro, [3]Maria Ribeiro, [4]Ana Morgadinho, [5]Cristina Januario, [6]Margarida Dias, [7]Ana Calado, [8]Cristina Semedo, [9]Catarina R. Oliveira, [10]John Anthony Hardy, [11]Andrew Singleton [Full author list] | BMC Neurology [curation] | DOI: 10.1186/1471-2377-8-1
PubMed: 18211709 | Portugal [curation]; Parkinson's disease [curation] | 2008-01-22 |
| Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal | [1]Jose Bras, [2]Coro Paisán-Ruíz, [3]Rita Guerreiro, [4]Maria Helena Ribeiro, [5]Ana Morgadinho, [6]Cristina Januario, [7]Ellen Sidransky, [8]Catarina R. Oliveira, [9]Andrew Singleton [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2007.11.016
PubMed: 18160183 | Portugal [curation]; Parkinson's disease [curation]; patient [curation] | 2007-12-21 |