المؤلفون: Huang, Nancy, Marie, Suely K.N., Kok, Fernando, Nitrini, Ricardo

المصدر: Arquivos de Neuro-Psiquiatria. December 2001 59(4)

مصطلحات موضوعية: familial Creutzfeldt-Jakob disease, prion protein gene mutation, codon 210, 14-3-3 protein

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000600017

المؤلفون: Nancy Huang, Suely K.N. Marie, Fernando Kok, Ricardo Nitrini

المصدر: Arquivos de Neuro-Psiquiatria, Vol 59, Iss 4, Pp 932-935 (2001)

مصطلحات موضوعية: familial Creutzfeldt-Jakob disease, prion protein gene mutation, codon 210, 14-3-3 protein, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000600017&tlng=en; http://www.scielo.br/pdf/anp/v59n4/a17v59n4.pdf; https://doaj.org/toc/1678-4227

URL الوصول: https://doaj.org/article/0e7266b48f9a4e3d8a47f6aa5fe62e0f

المؤلفون: Yujiro Higashi, Shunsuke Ishii, Masato Asai, Tsuyoshi Takagi

المصدر: Brain Research. 1749:147140

مصطلحات موضوعية: Male, 0301 basic medicine, C57BL/6, Mutant, CREB-Binding Protein Gene Mutation, Mice, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Animals, Molecular Biology, Rubinstein-Taybi Syndrome, Genetics, biology, Rubinstein–Taybi syndrome, General Neuroscience, De novo mutation, biology.organism_classification, medicine.disease, CREB-Binding Protein, Spermatozoa, Sperm, Phenotype, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Mutation, Neurology (clinical), 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c0f3958a43bd9e10044a133491cf45
https://doi.org/10.1016/j.brainres.2020.147140

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

المؤلفون: Se Hee Kim, Byung Chan Lim, Yong Seung Hwang, Ki Joong Kim, Jong Hee Chae

المصدر: Korean Journal of Pediatrics, Vol 53, Iss 6, Pp 718-721 (2010)
Korean Journal of Pediatrics

مصطلحات موضوعية: Genetics, Mutation, CREB-binding protein, biology, Rubinstein–Taybi syndrome, business.industry, lcsh:RJ1-570, Case Report, lcsh:Pediatrics, medicine.disease_cause, medicine.disease, Pediatrics, CREB-Binding Protein Gene Mutation, behavioral disciplines and activities, Mutational analysis, Arnold-Chiari malformation, Pediatrics, Perinatology and Child Health, medicine, biology.protein, CREBBP gene, business, Rubinstein-Taybi syndrome, Congenital disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e747c124378a8ab3b19589d3d3ce22
http://kjp.or.kr/upload/pdf/kjped-53-718.pdf

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المؤلفون: Ricardo Nitrini, Suely Kazue Nagahashi Marie, N. Huang, Fernando Kok

المصدر: Arquivos de Neuro-Psiquiatria, Vol 59, Iss 4, Pp 932-935 (2001)
Arquivos de Neuro-Psiquiatria v.59 n.4 2001
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
ResearcherID

مصطلحات موضوعية: familial Creutzfeldt-Jakob disease, Prions, Neurosciences. Biological psychiatry. Neuropsychiatry, Gene mutation, Biology, Creutzfeldt-Jakob Syndrome, lcsh:RC321-571, law.invention, Fatal Outcome, prion protein gene mutation, law, mental disorders, Humans, Point Mutation, Coding region, Codon, codon 210, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Gene, 14-3-3 protein, Polymerase chain reaction, Immunoassay, Genetics, Point mutation, Middle Aged, Magnetic Resonance Imaging, Virology, nervous system diseases, Neurology, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Female, Neurology (clinical), RC321-571

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acf445d8a7b5c6873209cfbb015c013
https://doi.org/10.1590/s0004-282x2001000600017

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