المؤلفون: Heuer, Hilary W, Wang, P, Rascovsky, K, Wolf, A, Appleby, B, Bove, J, Bordelon, Y, Brannelly, P, Brushaber, DE, Caso, C, Coppola, G, Dickerson, B, Dickinson, S, Domoto‐Reilly, K, Faber, K, Ferrall, J, Fields, J, Fishman, A, Fong, J, Foroud, T, Forsberg, LK, Gearhart, D, Ghazanfari, B, Ghoshal, N, Goldman, J, Graff‐Radford, J, Graff‐Radford, N, Grant, I, Grossman, M, Haley, D, Hsiung, G‐Y, Huey, E, Irwin, D, Jones, D, Kantarci, K, Karydas, A, Kaufer, D, Kerwin, D, Knopman, D, Kornak, J, Kramer, JH, Kraft, R, Kremers, WK, Kukull, W, Litvan, I, Ljubenkov, P, Mackenzie, IR, Maldonado, M, Manoochehri, M, McGinnis, S, McKinley, E, Mendez, MF, Miller, BL, Onyike, C, Pantelyat, A, Pearlman, R, Petrucelli, L, Potter, M, Rademakers, R, Ramos, EM, Rankin, KP, Roberson, ED, Rogalski, E, Sengdy, P, Shaw, L, Syrjanen, J, Tartaglia, MC, Tatton, N, Taylor, J, Toga, A, Trojanowski, J, Weintraub, S, Wong, B, Wszolek, Z, Boeve, BF, Rosen, HJ, Boxer, AL, consortia, on behalf of the ARTFL and LEFFTDS

المصدر: Alzheimer's & Dementia. 16(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Acquired Cognitive Impairment, Frontotemporal Dementia (FTD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Alzheimer's Disease Related Dementias (ADRD), Behavioral and Social Science, Clinical Research, Rare Diseases, Dementia, Brain Disorders, Aging, Genetics, Neurological, Age Factors, Aged, Brain, C9orf72 Protein, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neuropsychological Tests, North America, Progranulins, tau Proteins, bvFTD, C9orf72, clinical trials, frontotemporal dementia, genetics, GRN, MAPT, ARTFL and LEFFTDS consortia, Geriatrics, Clinical sciences, Biological psychology

URL الوصول: https://escholarship.org/uc/item/31j9739q

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المؤلفون: Brennecke, Nicholas, Cali, Ignazio, Mok, Tze, Speedy, Helen, Consortium, Genomics England Research, Hosszu, Laszlo, Stehmann, Christiane, Cracco, Laura, Puoti, Gianfranco, Prior, Thomas, Cohen, Mark, Collins, Steven, Mead, Simon, Appleby, Brian

المساهمون: Brennecke, N., Cali, I., Mok, T. H., Speedy, H., Consortium, G. E. R., Hosszu, L. L. P., Stehmann, C., Cracco, L., Puoti, G., Prior, T. W., Cohen, M. L., Collins, S. J., Mead, S., Appleby, B. S.

المصدر: Viruses
Volume 13
Issue 9
Viruses, Vol 13, Iss 1794, p 1794 (2021)

مصطلحات موضوعية: Male, Prions, animal diseases, Population, prion disease, Disease, Biology, octapeptide repeat insertion, Microbiology, Asymptomatic, Article, Creutzfeldt-Jakob Syndrome, Prion Proteins, Prion Diseases, Methionine, Genetic, National Prion Clinic, Virology, mental disorders, medicine, Humans, genetics, Allele, education, Alleles, Aged, Genetic testing, Aged, 80 and over, Genetics, education.field_of_study, medicine.diagnostic_test, Brain, Middle Aged, Penetrance, QR1-502, Creutzfeldt-Jakob disease, nervous system diseases, Mutagenesis, Insertional, Infectious Diseases, Female, genetic Creutzfeldt-Jakob disease, medicine.symptom, Oligopeptides, Asymptomatic carrier

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb14b8abf1f9020d0d5f89a986fb700

المؤلفون: 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

المساهمون: Diseases, Network Centre for Biomedical Research in Neurodegenerative, Jones E., Hummerich H., Vire 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., Karamujic-Comic 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., Martinon-Torres F., Bouaziz-Amar E., Haik 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., Universidad de Cantabria, Neurology, Amsterdam Neuroscience - Neurodegeneration, Epidemiology

المصدر: 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

مصطلحات موضوعية: 0301 basic medicine, epidemiology [Creutzfeldt-Jakob Syndrome], Tau protein, Single-nucleotide polymorphism, Genome-wide association study, diagnosis [Creutzfeldt-Jakob Syndrome], Disease, genetics [Genetic Loci], methods [Genome-Wide Association Study], Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, PRNP, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Genotyping, Exome sequencing, Genetics, biology, Odds ratio, genetics [Creutzfeldt-Jakob Syndrome], 030104 developmental biology, Genetic Loci, epidemiology [Genetic Predisposition to Disease], biology.protein, genetics [Polymorphism, Single Nucleotide], Neurology (clinical), 030217 neurology & neurosurgery, Genome-Wide Association Study, Human

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7233c1ef4905578810d4be7f91aaa40