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1. Full Text Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
by Bis, Joshua C and Hamilton-Nelson, Kara L and Hoffmann, Per and Garnier, Jean-Guillaume and Gerrish, Amy and Qu, Liming and Denning, Nicola and Adams, Hieab H and Brody, Jennifer A and Dombroski, Beth A and Uphill, James and Cantwell, Laura B and Galimberti, Daniela and Hofer, Edith and Fin, Bertrand and Scarpini, Elio and Voijnovic, Dina and Adams, Perrie M and Beekly, Duane and Rodriguez-Rodriguez, Eloy and Thonberg, Hakan and Maier, Wolfgang and Ghetti, Bernardino and Huebinger, Ryan M and Lord, Jenny and Beiser, Alexa S and Helisalmi, Seppo and Kukull, Walter A and Lawlor, Brian and Salani, Francesca and Boerwinkle, Eric and Hanon, Olivier and Royall, Donald R and de Rojas, Itziar and Ritchie, Karen and Dubois, Bruno and Koutroumani, Maria and Whitehead, Patrice and Quintela, Inés and Lannfelt, Lars and Boxer, Adam and Powell, John F and Cairns, Nigel J and Bass, Nicholas J and Fisher, Elizabeth and Dick, Malcolm and Scherer, Martin and Fallon, Kenneth B and Riemenschneider, Matthias and Gearing, Marla and Green, Robert C and Hollingworth, Paul and Hulette, Christine M and Marshall, Rachel and Menzies, Georgina E and Leonenko, Ganna and Real, Luis M and Jessen, Frank and Leverenz, James B and Mann, David and Lieberman, Andrew P and Klopp, Norman and Martiniuk, Frank and Medway, Christopher and Mash, Deborah C and McCormick, Wayne C and Gallacher, John and Miller, Carol A and Wiltfang, Jens and O'Bryant, Sid and Olichney, John M and Parisi, Joseph E and Mead, Simon and Ryan, Natalie S and Reisberg, Barry and Gallo, Maura and Seeley, William W and Spina, Salvatore and Trojanowski, John Q and Van Deerlin, Vivianna M and Wingo, Thomas S and Pilotto, Alberto and Bosco, Paola and Boccardi, Virginia and De Jager, Phil L and Deloukas, Panagiotis and Cruchaga, Carlos and Kehoe, Patrick G and Love, Seth and Launer, Lenore J and Younkin, Steven G and Ikram, M Arfan and Dickson, Dennis W and Schmidt, Helena and Clarimon, Jordi and Haines, Jonathan L and Deleuze, Jean-Francois and Owen, Michael J and Schellenberg, Gerard D and Lambert, Jean-Charles and Alzheimer Disease Genetics Consortium (ADGC) and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and European Alzheimer’s Disease Initiative (EADI) and Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES) and The European Alzheimer’s Disease Initiative (EADI)
Nature genetics, ISSN 1061-4036, 09/2019, Volume 51, Issue 9, pp. 1423 - 1424
Evans, Angela | Bryant, John | Paulson, John | Schneider, Susan | Risk | Lipids | Rodriguez, Simon | Morris, Robert | Epidemiology | Immunity | Smith, Joshua | Lopez, Martin | Consortia | Boerwinkle, Eric | Crane, David | Genetic analysis | Aging | Liming | Genetics | Tanzi, Rudolph E | Alzheimer's disease | Kim, Frank | Collinge, William | Bass | Smith, John M | Carlson, Nicholas | Cranes | Brown, Frank | Neurodegenerative diseases | Health risks | Bass, Cynthia | Mayo, John | Alvarez, Ignacio | Environmental risk | Shaw, Amanda | Gilbert, John | Powell, James | Marshall, Gail | Tau protein | Error correction | Alzheimers disease | Green, Kevin | Index Medicus | Medicin och hälsovetenskap
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2. Full Text Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
by Beck, Jon and Poulter, Mark and Hensman, Davina and Rohrer, Jonathan D and Mahoney, Colin J and Adamson, Gary and Campbell, Tracy and Uphill, James and Borg, Aaron and Fratta, Pietro and Orrell, Richard W and Malaspina, Andrea and Rowe, James and Brown, Jeremy and Hodges, John and Sidle, Katie and Polke, James M and Houlden, Henry and Schott, Jonathan M and Fox, Nick C and Rossor, Martin N and Tabrizi, Sarah J and Isaacs, Adrian M and Hardy, John and Warren, Jason D and Collinge, John and Mead, Simon
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 345 - 353
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Frontotemporal Lobar Degeneration - pathology | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Nerve Degeneration - genetics | United Kingdom | Nerve Degeneration - pathology | DNA - genetics | Proteins - genetics | DNA Repeat Expansion | Amyotrophic Lateral Sclerosis - pathology | Brain - pathology | C9orf72 Protein | Polymorphism, Single Nucleotide | Frontotemporal Lobar Degeneration - genetics | Microsatellite Repeats | Cohort Studies | Genetic susceptibility | Causes of | Amyotrophic lateral sclerosis | Nervous system | Genetic aspects | Degeneration | Single nucleotide polymorphisms | Research | Nervous system diseases | Neurosciences | Huntington's chorea | Analysis | Creutzfeldt-Jakob disease | Amyloid beta-protein | Alzheimer's disease | Polymerase chain reaction | Genotype & phenotype | Morphology | Deoxyribonucleic acid--DNA | Neurological disorders | Index Medicus
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3. Full Text PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
by Beck, Jon A and Poulter, Mark and Campbell, Tracy A and Adamson, Gary and Uphill, James B and Guerreiro, Rita and Jackson, Graham S and Stevens, James C and Manji, Hadi and Collinge, John and Mead, Simon
Human mutation, ISSN 1059-7794, 07/2010, Volume 31, Issue 7, pp. E1551 - E1563
mutation screening | PRNP | prion | diagnosis | inherited | allele | Allele | Prion | Diagnosis | Inherited | Mutation screening | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prion Diseases - genetics | Prions - genetics | Genetic Association Studies | Gene Frequency | Humans | Alleles | London | Genotype | Mutation, Missense | DNA Mutational Analysis - methods | Prion Diseases - diagnosis | Index Medicus | Pathogenicity | Insertion | Data processing | Genomes | Heredity | Mutation | Open reading frames | octapeptides | Prion protein | Genetic counselling | Population genetics | DNA sequencing
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4. Full Text Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study
by Mead, Simon, PhD and Poulter, Mark, BSc and Uphill, James, BSc and Beck, John, BSc and Whitfield, Jerome, MA and Webb, Thomas EF, MRCP and Campbell, Tracy, BSc and Adamson, Gary, BSc and Deriziotis, Pelagia, MSc and Tabrizi, Sarah J, PhD and Hummerich, Holger, PhD and Verzilli, Claudio, PhD and Alpers, Michael P, FRS and Whittaker, John C, PhD and Collinge, John, FRS
Lancet neurology, ISSN 1474-4422, 2009, Volume 8, Issue 1, pp. 57 - 66
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Creutzfeldt-Jakob Syndrome - epidemiology | Prion Proteins | Prions - genetics | Humans | Kuru - epidemiology | Middle Aged | Male | Adult | Female | Papua New Guinea - epidemiology | Quality Control | Data Interpretation, Statistical | Genome-Wide Association Study | Membrane Proteins - genetics | Chromosomes, Human - genetics | Risk Factors | Linkage Disequilibrium - genetics | Genotype | DNA - genetics | Age of Onset | Alleles | Aged | Polymorphism, Single Nucleotide | Creutzfeldt-Jakob Syndrome - genetics | Population Surveillance | United Kingdom - epidemiology | Genetic research | Medicine, Experimental | Medical research | Genomics | Risk factors | Creutzfeldt-Jakob disease | Index Medicus | Fast track
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5. Full Text A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure
by Mead, Simon and Whitfield, Jerome and Poulter, Mark and Shah, Paresh and Uphill, James and Campbell, Tracy and Al-Dujaily, Huda and Hummerich, Holger and Beck, Jon and Mein, Charles A and Verzilli, Claudio and Whittaker, John and Alpers, Michael P and Collinge, John
The New England journal of medicine, ISSN 0028-4793, 11/2009, Volume 361, Issue 21, pp. 2056 - 2065
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | Biological and medical sciences | General aspects | Medical sciences | Prevention and actions | Haplotypes | Prion Proteins | Genetic Predisposition to Disease | Prions - genetics | Kuru - genetics | Gene Frequency | Humans | Kuru - epidemiology | Middle Aged | Genotype | Male | Cannibalism | Polymorphism, Genetic | Young Adult | Genetic Fitness | Disease Outbreaks | Adolescent | Adult | Female | Aged | Papua New Guinea - epidemiology | Control | Demographic aspects | Gene mutations | Analysis | Genetic aspects | Research | Kuru | Genetic polymorphisms | Proteins | Spongiform encephalopathies | Prions | Creutzfeldt-Jakob disease | Index Medicus | Abridged Index Medicus
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6. Full Text Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases
by Ferrari, Raffaele and Wang, Yunpeng and Vandrovcova, Jana and Guelfi, Sebastian and Witeolar, Aree and Karch, Celeste M and Schork, Andrew J and Fan, Chun C and Brewer, James B and Momeni, Parastoo and Schellenberg, Gerard D and Dillon, William P and Sugrue, Leo P and Hess, Christopher P and Yokoyama, Jennifer S and Bonham, Luke W and Rabinovici, Gil D and Miller, Bruce L and Andreassen, Ole A and Dale, Anders M and Hardy, John and Desikan, Rahul S and IPDGC and Int FTD-Genomics Consortium IFGC and IGAP and International Genomics of Alzheimer's Project (IGAP) and International Parkinson's Disease Genomics Consortium (IPDGC) and International FTD-Genomics Consortium (IFGC)
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 02/2017, Volume 88, Issue 2, pp. 152 - 164
Psychiatry and Mental health | Surgery | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Frontotemporal Dementia - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Alleles | Genotype | Polymorphism, Single Nucleotide | Parkinson Disease - genetics | Alzheimer Disease - genetics | Genetic aspects | Parkinson's disease | Research | Frontotemporal dementia | Alzheimer's disease | Dementia | Index Medicus
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7. Full Text Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
by Sims, Rebecca and Lee, Sven and Adams, Hieab and Reitz, Christiane and Hofman, Albert and Rivadeneira Ramirez, Fernando and Uitterlinden, Ané and Ikram, Arfan and Launer, Lenore and Amin, Najaf and Duijn, Cornelia and EADI and GERAD PERADES and ARUKConsortium and CHARGE and ADGC and GERAD/PERADES, CHARGE, ADGC, EADI and ARUK Consortium
Nature genetics, ISSN 1061-4036, 09/2017, Volume 49, Issue 9, pp. 1373 - 1384
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Microglia - metabolism | Genetic Predisposition to Disease - genetics | Gene Frequency | Humans | Immunity, Innate - genetics | Genotype | Gene Expression Profiling | Case-Control Studies | Linkage Disequilibrium | Membrane Glycoproteins - genetics | Sequence Homology, Amino Acid | Exome - genetics | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Phospholipase C gamma - genetics | Polymorphism, Single Nucleotide | Alzheimer Disease - genetics | Odds Ratio | Receptors, Immunologic - genetics | Immune response | Genetic variation | Physiological aspects | Development and progression | Genetic aspects | Research | Alzheimer's disease | Neurodegenerative diseases | Genes | Genomics | Health risks | Innate immunity | Genomes | Disease control | Immunity | Microglia | Proteins | Studies | Consortia | DNA microarrays | Genotyping | Gene frequency | DNA methylation | Alzheimers disease | Protein interaction | Bioinformatics | Genotypes | Immune system | Index Medicus | Life Sciences | Neurons and Cognition | Medicin och hälsovetenskap
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8. Full Text R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
by Slattery, Catherine F and Beck, Jonathan A and Harper, Lorna and Adamson, Gary and Abdi, Zeinab and Uphill, James and Campbell, Tracy and Druyeh, Ron and Mahoney, Colin J and Rohrer, Jonathan D and Kenny, Janna and Lowe, Jessica and Leung, Kelvin K and Barnes, Josephine and Clegg, Shona L and Blair, Melanie and Nicholas, Jennifer M and Guerreiro, Rita J and Rowe, James B and Ponto, Claudia and Zerr, Inga and Kretzschmar, Hans and Gambetti, Pierluigi and Crutch, Sebastian J and Warren, Jason D and Rossor, Martin N and Fox, Nick C and Collinge, John and Schott, Jonathan M and Mead, Simon
Alzheimer's & dementia, ISSN 1552-5260, 11/2014, Volume 10, Issue 6, pp. 602 - 608.e4
Neurology | Phenotype | TREM2 | Prion | Frontotemporal dementia | Alzheimer's | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Male | Alzheimer Disease - pathology | Genetic Variation | Arginine - genetics | Aged, 80 and over | Female | Frontotemporal Dementia - pathology | Frontotemporal Dementia - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Factors | Histidine - genetics | Exons - genetics | Genotype | Membrane Glycoproteins - genetics | Brain - pathology | Creutzfeldt-Jakob Syndrome - pathology | Aged | Alzheimer Disease - genetics | Creutzfeldt-Jakob Syndrome - genetics | Receptors, Immunologic - genetics | Cohort Studies | Neurosciences | Alzheimer's disease | Prions | Risk factors | Index Medicus | phenotype | frontotemporal dementia | prion | Alzheimer’s
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