المؤلفون: Roeber, Sigrun, Krebs, Bjarne, Neumann, Manuela, Windl, Otto, Zerr, Inga, Grasbon-Frodl, Eva-Maria, Kretzschmar, Hans A.

المصدر: Acta Neuropathologica. April 2005 109(4):443-448

المؤلفون: Sabina Capellari, André G. Uitterlinden, M. Arfan Ikram, Anna Poleggi, Wei Chen, Alison Boyd, Konrad J. Karczewski, Steven A. McCarroll, Sven J. van der Lee, Steven J. Collins, Sabina Eigenbrod, Jamie L. Marshall, Annemieke J. M. Rozemuller, Karen L. Mohlke, Pamela Sklar, Mark J. Daly, Richard Knight, Miguel Calero, Markku Laakso, Robert Kraaij, Sonia M Vallabh, Cornelia M. van Duijn, Tetsuyuki Kitamoto, Jean Philippe Brandel, Daniel G. MacArthur, Stéphane Haïk, Pierluigi Gambetti, Kaitlin E. Samocha, Monkol Lek, Casper Jansen, Kimberly Chambert, Shaun Purcell, Anna K. Kähler, Michael Boehnke, Piero Parchi, Karol Estrada, Claudia Ponto, Linda P.C. Yu, Nobuo Sanjo, Jeroen van Rooij, Anna Ladogana, Hidehiro Mizusawa, Joyce Y. Tung, Yvonne Cohen, Shulin Na Zhang, Janis Blevins, Christina M. Hultman, Masahito Yamada, Elodie Bouaziz-Amar, Anne H. O’Donnell-Luria, Yosikazu Nakamura, Cory Y. McLean, Inga Zerr, Armin Giese, Albert Hofman, Patrick F. Sullivan, Jean-Louis Laplanche, Eric Vallabh Minikel, Jesús de Pedro-Cuesta, Robert G. Will, J. Fah Sathirapongsasuti, Theo F. J. Kraus, Tsuyoshi Hamaguchi

المساهمون: Neurology, Pathology, Amsterdam Neuroscience - Neurodegeneration, Minikel, Eric Vallabh, Vallabh, Sonia M., Lek, Monkol, Estrada, Karol, Samocha, Kaitlin E., Sathirapongsasuti, J. Fah, Mclean, Cory Y., Tung, Joyce Y., Yu, Linda P. C., Gambetti, Pierluigi, Blevins, Jani, Zhang, Shulin, Cohen, Yvonne, Chen, Wei, Yamada, Masahito, Hamaguchi, Tsuyoshi, Sanjo, Nobuo, Mizusawa, Hidehiro, Nakamura, Yosikazu, Kitamoto, Tetsuyuki, Collins, Steven J., Boyd, Alison, Will, Robert G., Knight, Richard, Ponto, Claudia, Zerr, Inga, Kraus, Theo F.J., Eigenbrod, Sabina, Giese, Armin, Calero, Miguel, De Pedro-Cuesta, Jesú, Haïk, Stéphane, Laplanche, Jean-Loui, Bouaziz-Amar, Elodie, Brandel, Jean-Philippe, Capellari, Sabina, Parchi, Piero, Poleggi, Anna, Ladogana, Anna, O'Donnell-Luria, Anne H., Karczewski, Konrad J., Marshall, Jamie L., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L., Kähler, Anna, Chambert, Kimberly, Mccarroll, Steven, Sullivan, Patrick F., Hultman, Christina M., Purcell, Shaun M., Sklar, Pamela, Van Der Lee, Sven J., Rozemuller, Annemieke, Jansen, Casper, Hofman, Albert, Kraaij, Robert, Van Rooij, Jeroen G. J., Ikram, M. Arfan, Uitterlinden, André G., Van Duijn, Cornelia M., Daly, Mark J., Macarthur, Daniel G., Epidemiology, Internal Medicine

المصدر: Science Translational Medicine, 8(322):322ra9. American Association for the Advancement of Science
Science Translational Medicine, 8(322). American Association for the Advancement of Science
Minikel, E V, Vallabh, S M, Lek, M, Estrada, K, Samocha, K E, Sathirapongsasuti, J F, McLean, C Y, Tung, J Y, Yu, L P C, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, S J, Boyd, A, Will, R G, Knight, R, Ponto, C, Zerr, I, Kraus, T F J, Eigenbrod, S, Giese, A, Calero, M, De Pedro-Cuesta, J, Haïk, S, Laplanche, J L, Bouaziz-Amar, E, Brandel, J P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, A H, Karczewski, K J, Marshall, J L, Boehnke, M, Laakso, M, Mohlke, K L, Kähler, A, Chambert, K, McCarroll, S, Sullivan, P F, Hultman, C M, Purcell, S M, Sklar, P, Van Der Lee, S J, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, Van Rooij, J G J, Ikram, M A, Uitterlinden, A G, van Duijn, C M, Daly, M J & MacArthur, D G 2016, ' Quantifying prion disease penetrance using large population control cohorts ', Science Translational Medicine, vol. 8, no. 322, 322ra9 . https://doi.org/10.1126/scitranslmed.aad5169

مصطلحات موضوعية: 0301 basic medicine, PROTEIN GENE MUTATION, CREUTZFELDT-JAKOB-DISEASE, animal diseases, Penetrance, Disease, Research & Experimental Medicine, R208H MUTATION, Prion Diseases, Cohort Studies, STRAUSSLER-SCHEINKER-DISEASE, 0302 clinical medicine, Risk Factors, Genotype, Exome sequencing, Genetics, education.field_of_study, FATAL FAMILIAL INSOMNIA, General Medicine, 11 Medical And Health Sciences, 3. Good health, Medicine, Research & Experimental, UNCOMMON POLYMORPHISM RATHER, Life Sciences & Biomedicine, Prions, Population, Biology, AMYLOID PRECURSOR GENE, PRNP GENE, PRNP, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Allele, TRANSGENIC MOUSE MODEL, education, Fatal familial insomnia, Science & Technology, Exome Aggregation Consortium (ExAC), Cell Biology, 06 Biological Sciences, medicine.disease, POINT MUTATION, nervous system diseases, 030104 developmental biology, Case-Control Studies, Mutation, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345ca3279c0849399b5f2fe8df6626b2
http://hdl.handle.net/10044/1/56240

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