المؤلفون: Minikel, Eric Vallabh, Zerr, Inga, Collins, Steven J, Ponto, Claudia, Boyd, Alison, Klug, Genevieve, Karch, André, Kenny, Joanna, Collinge, John, Takada, Leonel T, Forner, Sven, Fong, Jamie C, Mead, Simon, Geschwind, Michael D

المصدر: American Journal of Human Genetics. 95(4)

مصطلحات موضوعية: Epidemiology, Biological Sciences, Health Sciences, Genetics, Rare Diseases, Brain Disorders, Transmissible Spongiform Encephalopathy (TSE), Infectious Diseases, Prevention, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Age of Onset, Aged, Anticipation, Genetic, Bias, Child, Computer Simulation, Creutzfeldt-Jakob Syndrome, Female, Genetic Diseases, Inborn, Humans, Male, Middle Aged, Models, Statistical, Mutation, Pedigree, Prion Proteins, Prions, Retrospective Studies, Young Adult, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6r126953Test

المؤلفون: Krasnianski, Anna, Heinemann, Uta, Ponto, Claudia, Kortt, Jasmine, Kallenberg, Kai, Varges, Daniela, Schulz-Schaeffer, Walter J., Kretzschmar, Hans A., Zerr, Inga

المصدر: European Journal of Epidemiology, 2016 Jan 01. 31(2), 187-196.

الوصول الحر: https://www.jstor.org/stable/44851750Test

المؤلفون: 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, Janis, 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, Jesús, Haïk, Stéphane, Laplanche, Jean Louis, 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.

المساهمون: 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.

مصطلحات موضوعية: CREUTZFELDT-JAKOB-DISEASE, STRAUSSLER-SCHEINKER-DISEASE, PROTEIN GENE MUTATION, FATAL FAMILIAL INSOMNIA, UNCOMMON POLYMORPHISM RATHER, TRANSGENIC MOUSE MODEL, AMYLOID PRECURSOR GENE, PRNP GENE, POINT MUTATION, R208H MUTATION

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26791950; info:eu-repo/semantics/altIdentifier/wos/WOS:000368511300005; volume:8; issue:322; firstpage:9; lastpage:20; numberofpages:12; journal:SCIENCE TRANSLATIONAL MEDICINE; http://hdl.handle.net/11585/588312Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84955582450; http://stm.sciencemag.org/content/8/322/322ra9.full.pdfTest

الإتاحة: https://doi.org/10.1126/scitranslmed.aad5169Test
http://hdl.handle.net/11585/588312Test
http://stm.sciencemag.org/content/8/322/322ra9.full.pdfTest

المؤلفون: Varges, Daniela, Manthey, Henrike, Heinemann, Uta, Ponto, Claudia, Schmitz, Matthias, Schulz-Schaeffer, Walter J, Krasnianski, Anna, Breithaupt, Maren, Fincke, Fabian, Kramer, Katharina, Friede, Tim, Zerr, Inga

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 88, issue 2, page 119-125 ; ISSN 0022-3050 1468-330X

الإتاحة: https://doi.org/10.1136/jnnp-2016-313541Test

المؤلفون: Sanchez-Juan, Pascual, Bishop, Matthew T, Kovacs, Gabor G, Calero, Miguel, Aulchenko, Yurii S, Ladogana, Anna, Boyd, Alison, Lewis, Victoria, Ponto, Claudia, Calero, Olga, Poleggi, Anna, Carracedo, Ángel, van der Lee, Sven J, Ströbel, Thomas, Rivadeneira, Fernando, Hofman, Albert, Haïk, Stéphane, Combarros, Onofre, Berciano, José, Uitterlinden, Andre G, Collins, Steven J, Budka, Herbert, Brandel, Jean-Philippe, Laplanche, Jean Louis, Pocchiari, Maurizio, Zerr, Inga, Knight, Richard S G, Will, Robert G, van Duijn, Cornelia M

المصدر: Sanchez-Juan, Pascual; Bishop, Matthew T; Kovacs, Gabor G; Calero, Miguel; Aulchenko, Yurii S; Ladogana, Anna; Boyd, Alison; Lewis, Victoria; Ponto, Claudia; Calero, Olga; Poleggi, Anna; Carracedo, Ángel; van der Lee, Sven J; Ströbel, Thomas; Rivadeneira, Fernando; Hofman, Albert; Haïk, Stéphane; Combarros, Onofre; Berciano, José; Uitterlinden, Andre G; Collins, Steven J; Budka, Herbert; Brandel, Jean-Philippe; Laplanche, Jean Louis; Pocchiari, Maurizio; Zerr, Inga; Knight, Richard S G; Will, Robert G; van Duijn, Cornelia M (2015). A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk. PLoS ONE, 10(4):e0123654.

مصطلحات موضوعية: Institute of Neuropathology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/115591/1/BudkaHPLOSone2015.pdfTest; info:pmid/25918841; urn:issn:1932-6203

الإتاحة: https://doi.org/10.5167/uzh-11559110.1371/journal.pone.0123654Test
https://www.zora.uzh.ch/id/eprint/115591Test/
https://www.zora.uzh.ch/id/eprint/115591/1/BudkaHPLOSone2015.pdfTest

المؤلفون: Douet, Jean-Yves, Zafar, Saima, Perret-Liaudet, Armand, Lacroux, Caroline, C., Lugan, Séverine, S., Aron, Naima, N., Cassard, Hervé, H., Ponto, Claudia, Corbière, Fabien, Torres, Juan Maria, Zerr, Inga, Andréoletti, Olivier

المساهمون: Interactions hôtes-agents pathogènes Toulouse (IHAP), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT), Georg-August-University = Georg-August-Universität Göttingen, Hospices Civils de Lyon (HCL), BioRan, Partenaires INRAE, Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria = National Institute for Agricultural and Food Research and Technology (INIA), JPND program (DEMTEST: Biomarker based diagnosis of rapid progressive dementias-optimization of diagnostic protocols) 01ED1201A, Robert Koch-Institute through funds of the Federal Ministry of Health 1369-341, European Project: 222887,EC:FP7:KBBE,FP7-KBBE-2007-2A,PRIORITY(2009)

المصدر: ISSN: 1080-6040.

مصطلحات موضوعية: CJD, Creutzfeldt-Jakob disease, TSE, blood, infectivity, sCJD, transmissible spongiform encephalopathy, vCJD, spongiform encephalopathy, mice, patient, prion, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24377668; info:eu-repo/grantAgreement/EC/FP7/222887/EU/Protecting the food chain from prions: shaping European priorities through basic and applied research/PRIORITY; hal-02635821; https://hal.inrae.fr/hal-02635821Test; https://hal.inrae.fr/hal-02635821/documentTest; https://hal.inrae.fr/hal-02635821/file/2014_Douet_Emerg%20Inf%20Dis_1.pdfTest; PRODINRA: 261647; PUBMED: 24377668; WOS: 000329272100018

الإتاحة: https://doi.org/10.3201/eid2001.130353Test
https://hal.inrae.fr/hal-02635821Test
https://hal.inrae.fr/hal-02635821/documentTest
https://hal.inrae.fr/hal-02635821/file/2014_Douet_Emerg%20Inf%20Dis_1.pdfTest

المؤلفون: Krasnianski, Anna, Juan, P. Sanchez, Ponto, Claudia, Bartl, Mario, Heinemann, U., Varges, Daniel. A., Schulz-Schaeffer, Walter J., Kretzschmar, Hans A., Zerr, I.

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/33354Test; 000336124400015; https://resolver.sub.uni-goettingen.de/purl?gs-1/10971Test

الإتاحة: https://doi.org/10.1136/jnnp-2013-305978Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/33354Test
https://resolver.sub.uni-goettingen.de/purl?gs-1/10971Test

المؤلفون: Sanchez-Juan, Pascual, Bishop, Matthew T, Poleggi, Anna, Carracedo, Ángel, van der Lee, Sven J, Ströbel, Thomas, Rivadeneira, Fernando, Hofman, Albert, Haïk, Stéphane, Combarros, Onofre, Berciano, José, Uitterlinden, Andre G, Kovacs, Gabor G, Collins, Steven J, Budka, Herbert, Brandel, Jean-Philippe, Laplanche, Jean Louis, Pocchiari, Maurizio, Zerr, Inga, Knight, Richard S G, Will, Robert G, van Duijn, Cornelia M, Calero, Miguel, Aulchenko, Yurii S, Ladogana, Anna, Boyd, Alison, Lewis, Victoria, Ponto, Claudia, Calero, Olga

المصدر: PLOS ONE 10(4), e0123654 (2015). doi:10.1371/journal.pone.0123654

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Case-Control Studies, Creutzfeldt-Jakob Syndrome: genetics, Genome-Wide Association Study: methods, Germany, Humans, Netherlands, Polymorphism, Single Nucleotide, Prion Proteins, Prions: genetics, Receptors, Metabotropic Glutamate: genetics, Signal Transduction, United Kingdom, PRNP protein, human, Prions, Metabotropic Glutamate, metabotropic glutamate receptor 8

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:25918841; info:eu-repo/semantics/altIdentifier/issn/1932-6203; https://pub.dzne.de/record/137909Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-04231%22Test

الإتاحة: https://doi.org/10.1371/journal.pone.0123654Test
https://pub.dzne.de/record/137909Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-04231%22Test

المؤلفون: Karch, Andre, Manthey, Henrike, Ponto, Claudia, Hermann, Peter, Heinemann, Uta, Schmidt, Christian D., Zerr, Inga

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/27934Test; 000329117900091; https://resolver.sub.uni-goettingen.de/purl?gs-1/9577Test

الإتاحة: https://doi.org/10.1371/journal.pone.0084405Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/27934Test
https://resolver.sub.uni-goettingen.de/purl?gs-1/9577Test

المؤلفون: Minikel, Eric Vallabh, Vallabh, Sonia, Orseth, Margaret, Brandel, Jean-Philippe, Haïk, Stéphane, Laplanche, Jean-Louis, Zerr, Inga, Parchi, Piero, Capellari, Sabina, Safar, Jiri, Kenny, Janna, Fong, Jamie, Takada, Leonel, Ponto, Claudia, Hermann, Peter, Knipper, Tobias, Stehmann, Christiane, Kitamoto, Tetsuyuki, Ae, Ryusuke, Hamaguchi, Tsuyoshi, Sanjo, Nobuo, Tsukamoto, Tadashi, Mizusawa, Hidehiro, Collins, Steven, Chiesa, Roberto, Roiter, Ignazio, de Pedro-Cuesta, Jesús, Calero, Miguel, Geschwind, Michael, Yamada, Masahito, Nakamura, Yosikazu, Mead, Simon

المساهمون: Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, Massachusetts General Hospital Boston, Harvard Medical School Boston (HMS), Harvard Business School, Harvard University, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Georg-August-University = Georg-August-Universität Göttingen, Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), Case Western Reserve University Cleveland, University College of London London (UCL), University of California San Francisco (UC San Francisco), University of California (UC), University of Melbourne, Tohoku University Sendai, Jichi Medical University Tochigi-Ken, Japan, School of Medicine Kanazawa Medical University, Kanazawa Medical University, Tokyo Medical and Dental University Japan (TMDU), National Center of Neurology and Psychiatry (NCNP), Istituto di Ricerche Farmacologiche "Mario Negri" (IRCCS), Instituto de Salud Carlos III Madrid (ISC), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), University College London Hospitals NHS Foundation Trust London, UK (UCLH), ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010)

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Kaplan-Meier Estimate, MESH: Male, MESH: Middle Aged, MESH: Mutation, MESH: Penetrance, MESH: Prion Diseases, MESH: Prion Proteins, MESH: Proportional Hazards Models, MESH: Research Design, MESH: Young Adult, MESH: Age of Onset, MESH: Aged, 80 and over, MESH: Child, MESH: Clinical Trials as Topic, MESH: Female, MESH: Genotype, MESH: Humans, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31171647; hal-04560088; https://hal.sorbonne-universite.fr/hal-04560088Test; PUBMED: 31171647; PUBMEDCENTRAL: PMC6656649

الإتاحة: https://doi.org/10.1212/WNL.0000000000007745Test
https://hal.sorbonne-universite.fr/hal-04560088Test