Genetic predisposition, modifiable-risk-factor profile and long-term dementia risk in the general population

Autor: Hata Karamujić-Čomić, Maarten J.G. Leening, M. Kamran Ikram, Trudy Voortman, Shahzad Ahmad, Silvan Licher, M. Arfan Ikram

Publikováno v: Nature Medicine, 25(9), 1364-+. Nature Publishing Group

The exact etiology of dementia is still unclear, but both genetic and lifestyle factors are thought to be key drivers of this complex disease. The recognition of familial patterns of dementia has led to the discovery of genetic factors that have a ro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c67f52170dace24b7e05bea50dc21f
https://doi.org/10.1038/s41591-019-0547-7

Circulating metabolites are associated with brain atrophy and white matter hyperintensities

Autor: Frederik Barkhof, Thomas Hankemeier, Philip Scheltens, Aad van der Lugt, Cornelia M. van Duijn, Carel F.W. Peeters, Francisca A. de Leeuw, M. Arfan Ikram, Dina Vojinovic, Najaf Amin, Hieab H.H. Adams, Charlotte E. Teunissen, Daniel Bos, Shahzad Ahmad, Meike W. Vernooij, Betty M. Tijms, Wiesje M. van der Flier, Maartje I. Kester, Hata Karamujić-Čomić

Publikováno v: Alzheimer's & Dementia
de Leeuw, F A, Karamujić-Čomić, H, Tijms, B M, Peeters, C F W, Kester, M I, Scheltens, P, Ahmad, S, Vojinovic, D, Adams, H H H, Hankemeier, T, Bos, D, van der Lugt, A, Vernooij, M W, Ikram, M A, Amin, N, Barkhof, F, Teunissen, C E, van Duijn, C M & van der Flier, W M 2021, ' Circulating metabolites are associated with brain atrophy and white matter hyperintensities ', Alzheimer's and Dementia, vol. 17, no. 2, pp. 205-214 . https://doi.org/10.1002/alz.12180
Alzheimer's and Dementia, 17(2), 205-214. WILEY
Alzheimer's and Dementia, 17(2), 205-214. Elsevier
Alzheimers & Dementia, 17(2), 205-214. Elsevier Inc.

Introduction: Our aim was to study whether systemic metabolites are associated with magnetic resonance imaging (MRI) measures of brain and hippocampal atrophy and white matter hyperintensities (WMH). Methods: We studied associations of 143 plasma-bas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b99c8213db17c6da7c2fe04f3417fc

Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (IGAP)

Autor: Brian W. Kunkle, Amanda B. Kuzma, Adam C. Naj, Brian Fulton-Howard, Philippe Amouyel, Julie Williams, Ganna Leonenko, Peter Holmans, Jin Sha, Jonathan L. Haines, Li-San Wang, Benjamin Grenier-Boley, Alfredo Ramirez, Xueqiu Jian, J. C. Bis, Vincent Chouraki, Rebecca Sims, Josée Dupuis, Yi Zhao, Cornelia M. van Duijn, Gerard D. Schellenberg, Achilleas N. Pitsillides, Anita L. DeStefano, Sudha Seshadri, Hata Karamujić-Čomić, Jean-Charles Lambert, Maria Carolina Dalmasso, Lindsay A. Farrer, Margaret A. Pericak-Vance, Sven J. van der Lee, Rui Xia

Publikováno v: Alzheimer's & Dementia. 16

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a4bd7a6899cac70ceb6c9b9bf09c3837
https://doi.org/10.1002/alz.044193

Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in STX6 and GAL3ST1

Autor: Anna Poleggi, John Collinge, Carla A. Ibrahim-Verbaas, Jean-Philippe Brandel, Emma Jones, Dimitriadis A, Anna Bartoletti-Stella, James Uphill, Christiane Stehmann, Mok Th, Gerard H. Jansen, Tracy Campbell, Zafar S, Holger Hummerich, van Duijn C, Jiri G. Safar, Ewa Golanska, Martinón-Torres F, Aili Golubjatnikov, Michael B. Coulthart, Zane Jaunmuktane, Beata Sikorska, Giuseppe Matullo, Miguel Calero, Jerome Whitfield, Sabina Capellari, Jean-Louis Laplanche, Kathleen Glisic, Gabor G. Kovacs, Richard Knight, Helen Speedy, Juan Ps, Olga Calero, Jean-Charles Lambert, Stéphane Haïk, Anna Ladogana, Akin Nihat, Stephanie A. Booth, Serena Aneli, Herbert Budka, Pawel P. Liberski, Piero Parchi, Shannon Sarros, Jacqueline M. Linehan, Sebastian Brandner, Maurizio Pocchiari, Ahmed P, Michael D. Geschwind, Fronztek K, Antonio Salas, Inga Zerr, Janis Blevins, Elodie Bouaziz-Amar, Brian S. Appleby, Steven J. Collins, P. Gambetti, Hata Karamujić-Čomić, Adriano Aguzzi, Philippe Amouyel, van der Lee S, Penny Norsworthy, Parmjit S. Jat, Liam Quinn, Emmanuelle Viré, Simon Mead

Mammalian prions are lethal pathogens composed of fibrillar assemblies of misfolded prion protein. Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). V

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd854b0d6ee7d4a5ae9ac560ca64415

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

Autor: Gabor G. Kovacs, Stephanie A. Booth, Sebastian Brandner, Penny Norsworthy, Anna Ladogana, Akin Nihat, Herbert Budka, Saima Zafar, Helen Speedy, Antonio Salas, Parvin Ahmed, Holger Hummerich, Gerard H. Jansen, Tze How Mok, Michael D. Geschwind, Beata Sikorska, Maurizio Pocchiari, Christiane Stehmann, Sabina Capellari, Jean-Louis Laplanche, Sven J. van der Lee, Emma Jones, Jean-Charles Lambert, Olga Calero, Pierluigi Gambetti, Ewa Golanska, Serena Aneli, Richard Knight, Giuseppe Matullo, Pawel P. Liberski, Athanasios Dimitriadis, Jerome Whitfield, Hata Karamujić-Čomić, Federico Martinón-Torres, Emmanuelle Viré, Jiri G. Safar, Tracy Campbell, Pascual Sánchez-Juan, Katie Glisic, Anna Bartoletti-Stella, Carla A. Ibrahim-Verbaas, Adriano Aguzzi, Anna Poleggi, Aili Golubjatnikov, Karl Frontzek, Jean Phillipe Brandel, Phillipe Amouyel, Parmjit S. Jat, Zane Jaunmuktane, Simon Mead, Steven J. Collins, Inga Zerr, Liam Quinn, Piero Parchi, Janis Blevins, Elodie Bouaziz-Amar, Brian S. Appleby, Shannon Sarros, Jacqueline M. Linehan, Miguel Calero, Michael B. Coulthart, Stéphane Haïk, John Collinge, James Uphill, Cornelia M. van Duijn

Publikováno v: The lancet / Neurology 19(10), 840-848 (2020). doi:10.1016/S1474-4422(20)30273-8
Lancet Neurol 2020; 19: 840?48
UCrea Repositorio Abierto de la Universidad de Cantabria
instname
Lancet Neurology, 19(10), 840-848. Lancet Publishing Group
The Lancet Neurology, 19(10), 840-848. Lancet Publishing Group
Jones, E, Hummerich, H, Viré, E, Uphill, J, Dimitriadis, A, Speedy, H, Campbell, T, Norsworthy, P, Quinn, L, Whitfield, J, Linehan, J, Jaunmuktane, Z, Brandner, S, Jat, P, Nihat, A, How Mok, T, Ahmed, P, Collins, S, Stehmann, C, Sarros, S, Kovacs, G G, Geschwind, M D, Golubjatnikov, A, Frontzek, K, Budka, H, Aguzzi, A, Karamujić-Čomić, H, van der Lee, S J, Ibrahim-Verbaas, C A, van Duijn, C M, Sikorska, B, Golanska, E, Liberski, P P, Calero, M, Calero, O, Sanchez-Juan, P, Salas, A, Martinón-Torres, F, Bouaziz-Amar, E, Haïk, S, Laplanche, J-L, Brandel, J-P, Amouyel, P, Lambert, J-C, Parchi, P, Bartoletti-Stella, A, Capellari, S, Poleggi, A, Ladogana, A, Pocchiari, M, Aneli, S, Matullo, G, Knight, R, Zafar, S, Zerr, I, Booth, S, Coulthart, M B, Jansen, G H, Glisic, K, Blevins, J, Gambetti, P, Safar, J, Appleby, B, Collinge, J & Mead, S 2020, ' Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease : a genome-wide association study ', Lancet Neurology, vol. 19, no. 10, pp. 840-848 . https://doi.org/10.1016/S1474-4422(20)30273-8

Background Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7233c1ef4905578810d4be7f91aaa40