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by Kunkle, BW and Grenier-Boley, B and Sims, R and Bis, JC and Damotte, V and Naj, AC and Boland, A and Vronskaya, M and van der Lee, SJ and Amlie-Wolf, A and Bellenguez, C and Frizatti, A and Chouraki, V and Martin, ER and Sleegers, K and Badarinarayan, N and Jakobsdottir, J and Hamilton-Nelson, KL and Moreno-Grau, S and Olaso, R and Raybould, R and Chen, YN and Kuzma, AB and Hiltunen, M and Morgan, T and Ahmad, S and Vardarajan, BN and Epelbaum, J and Hoffmann, P and Boada, M and Beecham, GW and Garnier, JG and Harold, D and Fitzpatrick, AL and Valladares, O and Moutet, ML and Gerrish, A and Smith, AV and Qu, LM and Bacq, D and Denning, N and Jian, XQ and Zhao, Y and Del Zompo, M and Fox, NC and Choi, SH and Mateo, I and Hughes, JT and Adams, HH and Malamon, J and Sanchez-Garcia, F and Patel, Y and Brody, JA and Dombroski, BA and Naranjo, MCD and Daniilidou, M and Eiriksdottir, G and Mukherjee, S and Wallon, D and Uphill, J and Aspelund, T and Cantwell, LB and Garzia, F and Galimberti, D and Hofer, E and Butkiewicz, M and Fin, B and Scarpini, E and Sarnowski, C and Bush, WS and Meslage, S and Kornhuber, J and White, CC and Song, Y and Barber, RC and Engelborghs, S and Sordon, S and Voijnovic, D and Adams, PM and Vandenberghe, R and Mayhaus, M and Cupples, LA and Albert, MS and De Deyn, PP and Gu, W and Himali, JJ and Beekly, D and Squassina, A and Hartmann, AM and Orellana, A and Blacker, D and Rodriguez-Rodriguez, E and Lovestone, S and Garcia, ME and Doody, RS and Munoz-Fernadez, C and Sussams, R and Lin, HH and Fairchild, TJ and Benito, YA and ... and Cohorts Heart Aging Res Genomic Ep and Alzheimer Dis Genetics Consortium and European Alzheimers Dis Initiative and Genetic Environm Risk AD Defining 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 Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
NATURE GENETICS, ISSN 1061-4036, 03/2019, Volume 51, Issue 3, pp. 414 - 414
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large... 
COMMON VARIANTS | GENOTYPE IMPUTATION | AMYLOID-BETA | GENETICS & HEREDITY | DOMAIN-CONTAINING OXIDOREDUCTASE | MUTATIONS | ANGIOTENSIN-CONVERTING ENZYME | TRANSCRIPTION FACTOR | ONSET | GENOME-WIDE ASSOCIATION | APOLIPOPROTEIN-E | Genetic Predisposition to Disease - genetics | Lipids - genetics | Humans | Genetic Loci - genetics | Male | Genetic Testing - methods | Case-Control Studies | Haplotypes - genetics | tau Proteins - genetics | Amyloid beta-Peptides - genetics | Female | Lipid Metabolism - genetics | Aged | Alzheimer Disease - genetics | Genome-Wide Association Study - methods | Immunity - genetics | Ontology | Genomics | Genes | Lipids | Genomes | Mapping | Family medical history | Immunity | Risk factors | Protein turnover | Datasets | Proteins | Consortia | Genetic analysis | Dementia disorders | Genetics | Lipid metabolism | Alzheimer's disease | Age | ADAMTS-1 protein | Neurodegenerative diseases | Health risks | Metabolism | Risk analysis | Amyloid precursor protein | Meta-analysis | White blood cells | Genetic variance | Tau protein | Histocompatibility antigen HLA | Gene loci | Gene mapping | Alzheimers disease | Secretase | Dementia | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1226 - 1235
Journal Article
ACTA NEUROPATHOLOGICA, ISSN 0001-6322, 09/2017, Volume 134, Issue 3, pp. 475 - 487
Journal Article
by Kunkle, Brian W and Grenier-Boley, Benjamin and Sims, Rebecca and Bis, Joshua C and Damotte, Vincent and Naj, Adam C and Boland, Anne and Vronskaya, Maria and van der Lee, Sven J and Amlie-Wolf, Alexandre and Bellenguez, Céline and Frizatti, Aura and Chouraki, Vincent and Martin, Eden R and Sleegers, Kristel and Badarinarayan, Nandini and Jakobsdottir, Johanna and Hamilton-Nelson, Kara L and Moreno-Grau, Sonia and Olaso, Robert and Raybould, Rachel and Chen, Yuning and Kuzma, Amanda B and Hiltunen, Mikko and Morgan, Taniesha and Ahmad, Shahzad and Vardarajan, Badri N and Epelbaum, Jacques and Hoffmann, Per and Boada, Merce and Beecham, Gary W and Garnier, Jean-Guillaume and Harold, Denise and Fitzpatrick, Annette L and Valladares, Otto and Moutet, Marie-Laure and Gerrish, Amy and Smith, Albert V and Qu, Liming and Bacq, Delphine and Denning, Nicola and Jian, Xueqiu and Zhao, Yi and Del Zompo, Maria and Fox, Nick C and Choi, Seung-Hoan and Mateo, Ignacio and Hughes, Joseph T and Adams, Hieab H and Malamon, John and Sanchez-Garcia, Florentino and Patel, Yogen and Brody, Jennifer A and Dombroski, Beth A and Naranjo, Maria Candida Deniz and Daniilidou, Makrina and Eiriksdottir, Gudny and Mukherjee, Shubhabrata and Wallon, David and Uphill, James and Aspelund, Thor and Cantwell, Laura B and Garzia, Fabienne and Galimberti, Daniela and Hofer, Edith and Butkiewicz, Mariusz and Fin, Bertrand and Scarpini, Elio and Sarnowski, Chloe and Bush, Will S and Meslage, Stéphane and Kornhuber, Johannes and White, Charles C and Song, Yuenjoo and Barber, Robert C and Engelborghs, Sebastiaan and Sordon, Sabrina and Voijnovic, Dina and Adams, Perrie M and Vandenberghe, Rik and Mayhaus, Manuel and Cupples, L. Adrienne and Albert, Marilyn S and De Deyn, Peter P and Gu, Wei and Himali, Jayanadra J and Beekly, Duane and Squassina, Alessio and Hartmann, Annette M and Orellana, Adelina and Blacker, Deborah and Rodriguez-Rodriguez, Eloy and Lovestone, Simon and Garcia, Melissa E and Doody, Rachelle S and Munoz-Fernadez, Carmen and Sussams, Rebecca and Lin, Honghuang and Fairchild, Thomas J and Benito, Yolanda A and ... and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and Alzheimer Disease Genetics Consortium (ADGC) and The 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)
Nature Genetics, ISSN 1061-4036, 09/2019, Volume 51, Issue 9, pp. 1423 - 1424
Journal Article
by Kunkle, Brian W and Grenier-Boley, Benjamin and Sims, Rebecca and Bis, Joshua C and Damotte, Vincent and Naj, Adam C and Boland, Anne and Vronskaya, Maria and van der Lee, Sven J and Amlie-Wolf, Alexandre and Bellenguez, Céline and Frizatti, Aura and Chouraki, Vincent and Martin, Eden R and Sleegers, Kristel and Badarinarayan, Nandini and Jakobsdottir, Johanna and Hamilton-Nelson, Kara L and Moreno-Grau, Sonia and Olaso, Robert and Raybould, Rachel and Chen, Yuning and Kuzma, Amanda B and Hiltunen, Mikko and Morgan, Taniesha and Ahmad, Shahzad and Vardarajan, Badri N and Epelbaum, Jacques and Hoffmann, Per and Boada, Merce and Beecham, Gary W and Garnier, Jean-Guillaume and Harold, Denise and Fitzpatrick, Annette L and Valladares, Otto and Moutet, Marie-Laure and Gerrish, Amy and Smith, Albert V and Qu, Liming and Bacq, Delphine and Denning, Nicola and Jian, Xueqiu and Zhao, Yi and Del Zompo, Maria and Fox, Nick C and Choi, Seung-Hoan and Mateo, Ignacio and Hughes, Joseph T and Adams, Hieab H and Malamon, John and Sanchez-Garcia, Florentino and Patel, Yogen and Brody, Jennifer A and Dombroski, Beth A and Naranjo, Maria Candida Deniz and Daniilidou, Makrina and Eiriksdottir, Gudny and Mukherjee, Shubhabrata and Wallon, David and Uphill, James and Aspelund, Thor and Cantwell, Laura B and Garzia, Fabienne and Galimberti, Daniela and Hofer, Edith and Butkiewicz, Mariusz and Fin, Bertrand and Scarpini, Elio and Sarnowski, Chloe and Bush, Will S and Meslage, Stéphane and Kornhuber, Johannes and White, Charles C and Song, Yuenjoo and Barber, Robert C and Engelborghs, Sebastiaan and Sordon, Sabrina and Voijnovic, Dina and Adams, Perrie M and Vandenberghe, Rik and Mayhaus, Manuel and Cupples, L. Adrienne and Albert, Marilyn S and De Deyn, Peter P and Gu, Wei and Himali, Jayanadra J and Beekly, Duane and Squassina, Alessio and Hartmann, Annette M and Orellana, Adelina and Blacker, Deborah and Rodriguez-Rodriguez, Eloy and Lovestone, Simon and Garcia, Melissa E and Doody, Rachelle S and Munoz-Fernadez, Carmen and Sussams, Rebecca and Lin, Honghuang and Fairchild, Thomas J and Benito, Yolanda A and ... and Alzheimer Disease Genetics Consortium (ADGC) and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and The 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)
Nature Genetics, ISSN 1061-4036, 03/2019, Volume 51, Issue 3, pp. 414 - 430
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, p. e0154198
Activated Akt has been previously implicated in acting on RS domain-containing proteins. However, it has been questioned whether its action is direct or it is... 
SPLICING FACTORS | SUBSTRATE SPECIFICITIES | MOLECULAR-DYNAMICS | SR PROTEIN | NUCLEAR | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | FORCE-FIELD | RICH | MOTIF | ASSOCIATION | Phosphorylation | Humans | Peptides - genetics | Glycogen Synthase Kinase 3 beta - genetics | Immunoblotting | Proto-Oncogene Proteins c-akt - genetics | Peptides - metabolism | Arginine - genetics | Receptors, Cytoplasmic and Nuclear - chemistry | HEK293 Cells | Protein Domains | Glycogen Synthase Kinase 3 beta - chemistry | Proto-Oncogene Proteins c-akt - metabolism | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Proto-Oncogene Proteins c-akt - chemistry | Peptides - chemistry | Protein-Serine-Threonine Kinases - genetics | Serine - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Binding Sites - genetics | Serine - chemistry | Glycogen Synthase Kinase 3 beta - metabolism | Serine - metabolism | Molecular Dynamics Simulation | Arginine - chemistry | Sequence Homology, Amino Acid | Animals | Protein Binding | Protein-Serine-Threonine Kinases - chemistry | Mutation | Arginine - metabolism | Receptors, Cytoplasmic and Nuclear - metabolism | Physiological aspects | Genetic aspects | Research | Protein kinases | Computational biology | Peptides | Computer simulation | Laboratories | Molecular dynamics | AKT protein | Biochemistry | Genomes | Kinases | Substrates | Mutants | Proteins | Conserved sequence | Algorithms | Arginine | Plasmids | Synthetic peptides | Three dimensional models | Recombinant
Journal Article
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 02/2018, Volume 62, pp. 245.e1 - 245.e7
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often... 
RNA sequencing | Loss-of-function | Early onset Alzheimer's disease | TBK1 | Frontotemporal dementia | BELGIAN COHORT | IMMUNITY | AMYOTROPHIC-LATERAL-SCLEROSIS | BINDING KINASE 1 | MUTATIONS | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | Alzheimer's disease
Journal Article
Journal Article
by Kunkle, Brian W and Grenier-Boley, Benjamin and Sims, Rebecca and Bis, Joshua C and Damotte, Vincent and Naj, Adam C and Boland, Anne and Vronskaya, Maria and van der Lee, Sven J and Amlie-Wolf, Alexandre and Bellenguez, Céline and Frizatti, Aura and Chouraki, Vincent and Martin, Eden R and Sleegers, Kristel and Badarinarayan, Nandini and Jakobsdottir, Johanna and Hamilton-Nelson, Kara L and Moreno-Grau, Sonia and Olaso, Robert and Raybould, Rachel and Chen, Yuning and Kuzma, Amanda B and Hiltunen, Mikko and Morgan, Taniesha and Ahmad, Shahzad and Vardarajan, Badri N and Epelbaum, Jacques and Hoffmann, Per and Boada, Merce and Beecham, Gary W and Garnier, Jean-Guillaume and Harold, Denise and Fitzpatrick, Annette L and Valladares, Otto and Moutet, Marie-Laure and Gerrish, Amy and Smith, Albert V and Qu, Liming and Bacq, Delphine and Denning, Nicola and Jian, Xueqiu and Zhao, Yi and Del Zompo, Maria and Fox, Nick C and Choi, Seung-Hoan and Mateo, Ignacio and Hughes, Joseph T and Adams, Hieab H and Malamon, John and Sanchez-Garcia, Florentino and Patel, Yogen and Brody, Jennifer A and Dombroski, Beth A and Naranjo, Maria Candida Deniz and Daniilidou, Makrina and Eiriksdottir, Gudny and Mukherjee, Shubhabrata and Wallon, David and Uphill, James and Aspelund, Thor and Cantwell, Laura B and Garzia, Fabienne and Galimberti, Daniela and Hofer, Edith and Butkiewicz, Mariusz and Fin, Bertrand and Scarpini, Elio and Sarnowski, Chloe and Bush, Will S and Meslage, Stéphane and Kornhuber, Johannes and White, Charles C and Song, Yuenjoo and Barber, Robert C and Engelborghs, Sebastiaan and Sordon, Sabrina and Voijnovic, Dina and Adams, Perrie M and Vandenberghe, Rik and Mayhaus, Manuel and Cupples, L Adrienne and Albert, Marilyn S and De Deyn, Peter P and Gu, Wei and Himali, Jayanadra J and Beekly, Duane and Squassina, Alessio and Hartmann, Annette M and Orellana, Adelina and Blacker, Deborah and Rodriguez-Rodriguez, Eloy and Lovestone, Simon and Garcia, Melissa E and Doody, Rachelle S and Munoz-Fernadez, Carmen and Sussams, Rebecca and Lin, Honghuang and Fairchild, Thomas J and Benito, Yolanda A and ... and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and European Alzheimer’s Disease Initiative (EADI) and Alzheimer Disease Genetics Consortium (ADGC) and Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES)
Nature genetics, 08/2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 9/2017, Volume 134, Issue 3, pp. 475 - 487
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as... 
RNA sequencing | Pathology | Early Onset Alzheimer’s disease | Neurosciences | Third-generation long-read sequencing | Medicine & Public Health | ATP-Binding Cassette | Loss-of-function | Member 7 (ABCA7) | Modifier | Sub-Family A | Original Paper
Journal Article
by Jun, Yang and Ibrahim-Verbaas, Carla and Vronskaya, M and Lambert, J.-C and Chung, J and Naj, Adam and Kunkle, Brian and Wang, L.-S and Bis, Joshua and Bellenguez, Céline and Harold, Denise and Lunetta, Kathryn and DeStefano, Anita L and Grenier-Boley, Benjamin and Sims, Rebecca and Beecham, G.W and Smith, A.V and Chouraki, Vincent and Hamilton-Nelson, Kara and Ikram, Arfan and Fiévet, Nathalie and Denning, Nicola and Martin, E.R and Schmidt, H and Kamatani, Y and Dunstan, M.L and Valladares, Otto and Laza, A.R and Zelenika, Diana and Ramirez, Alfredo and Foroud, Tatiana and Choi, Seung-Hoan and Boland, A and Becker, T and Kukull, W.A and Lee, Sven and Pasquier, Florence and Cruchaga, Carlos and Beekly, Duane and Fitzpatrick, Annette and Hanon, Olivier and Gill, M and Barber, Rachel and Gudnason, Vilmundur and Campion, D and Love, S and Bennett, David A and Amin, Najaf and Berr, Claudine and Tsolaki, Magda and Buxbaum, J.D and Lopez, O.L and Deramecourt, Vincent and Fox, N.C and Cantwell, Laura B and Tárraga, L and Dufouil, Carole and Hardy, J and Crane, L.M.A and Eiriksdottir, Gudny and Hannequin, Didier and Clarke, Robert and Evans, D and Mosley, Thomas H and Letenneur, L and Brayne, Carol and Maier, W and De Jager, P and Emilsson, Valur and Dartigues, Jean-François and Hampel, H and Kamboh, M. Ilyas and Bruijn, Renée and Tzourio, Christophe and Pastor, Pau and Larson, Eric B and Rotter, J.I and O'donovan, Michael and Montine, Thomas J and Nalls, Michael and Mead, Simon and Reiman, Eric and Jonsson, P.V and Holmes, C and St George-Hyslop, P.H and Boada, Mercè and Passmore, Peter and Wendland, Annika and Schmidt, R and Morgan, Kevin and Winslow, A.R and Powell, J.F and Carasquillo, M and Younkin, S and Jakobsdottir, Margret and Kauwe, J.S.K and Wilhelmsen, K.C and Rujescu, Dan and Nöthen, Markus M and Hofman, Albert and ... and IGAP Consortium
Molecular Psychiatry, ISSN 1359-4184, 01/2016, Volume 21, Issue 1, pp. 108 - 117
Journal Article