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1دورية أكاديمية
المؤلفون: Pottier, Cyril, Ren, Yingxue, Perkerson, Ralph B, Baker, Matt, Jenkins, Gregory D, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, van Rooij, Jeroen GJ, Murray, Melissa E, Christopher, Elizabeth, McDonnell, Shannon K, Fogarty, Zachary, Batzler, Anthony, Tian, Shulan, Vicente, Cristina T, Matchett, Billie, Karydas, Anna M, Hsiung, Ging-Yuek Robin, Seelaar, Harro, Mol, Merel O, Finger, Elizabeth C, Graff, Caroline, Öijerstedt, Linn, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Prudlo, Johannes, Rizzu, Patrizia, Simon-Sanchez, Javier, Edbauer, Dieter, Roeber, Sigrun, Diehl-Schmid, Janine, Evers, Bret M, King, Andrew, Mesulam, M Marsel, Weintraub, Sandra, Geula, Changiz, Bieniek, Kevin F, Petrucelli, Leonard, Ahern, Geoffrey L, Reiman, Eric M, Woodruff, Bryan K, Caselli, Richard J, Huey, Edward D, Farlow, Martin R, Grafman, Jordan, Mead, Simon, Grinberg, Lea T, Spina, Salvatore, Grossman, Murray, Irwin, David J, Lee, Edward B, Suh, EunRan, Snowden, Julie, Mann, David, Ertekin-Taner, Nilufer, Uitti, Ryan J, Wszolek, Zbigniew K, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Hodges, John R, Piguet, Olivier, Geier, Ethan G, Yokoyama, Jennifer S, Rissman, Robert A, Rogaeva, Ekaterina, Keith, Julia, Zinman, Lorne, Tartaglia, Maria Carmela, Cairns, Nigel J, Cruchaga, Carlos, Ghetti, Bernardino, Kofler, Julia, Lopez, Oscar L, Beach, Thomas G, Arzberger, Thomas, Herms, Jochen, Honig, Lawrence S, Vonsattel, Jean Paul, Halliday, Glenda M, Kwok, John B, White, Charles L, Gearing, Marla, Glass, Jonathan, Rollinson, Sara, Pickering-Brown, Stuart, Rohrer, Jonathan D, Trojanowski, John Q, Van Deerlin, Vivianna, Bigio, Eileen H, Troakes, Claire, Al-Sarraj, Safa, Asmann, Yan, Miller, Bruce L, Graff-Radford, Neill R, Boeve, Bradley F, Seeley, William W
المصدر: Acta Neuropathologica. 137(6)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Brain Disorders, Rare Diseases, Human Genome, Alzheimer's Disease Related Dementias (ADRD), Dementia, Prevention, Genetics, Frontotemporal Dementia (FTD), Neurodegenerative, Acquired Cognitive Impairment, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Aged, DNA Repeat Expansion, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Frontal Lobe, Frontotemporal Lobar Degeneration, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DQ Antigens, Humans, Intracellular Signaling Peptides and Proteins, Loss of Function Mutation, Male, Middle Aged, Nerve Tissue Proteins, Potassium Channels, Progranulins, Protein Serine-Threonine Kinases, Proteins, RNA, Messenger, Risk Factors, Sequence Analysis, RNA, Societies, Scientific, TDP-43 Proteinopathies, White People, Whole-genome sequencing FTLD-TDP, TBK1, DPP6, UNC13A, HLA, Immunity, Clinical Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6nh4g8pwTest
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2دورية أكاديمية
المؤلفون: Dopper, Elise GP, Rombouts, Serge ARB, Jiskoot, Lize C, Heijer, Tom den, de Graaf, J Roos A, de Koning, Inge, Hammerschlag, Anke R, Seelaar, Harro, Seeley, William W, Veer, Ilya M, van Buchem, Mark A, Rizzu, Patrizia, van Swieten, John C
المصدر: Neurology. 80(9)
مصطلحات موضوعية: Alzheimer's Disease, Aging, Dementia, Neurodegenerative, Rare Diseases, Biomedical Imaging, Prevention, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Brain Disorders, Neurosciences, Frontotemporal Dementia (FTD), Clinical Research, Neurological, Adult, Aged, Brain Chemistry, Case-Control Studies, Female, Frontal Lobe, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Nerve Net, Risk, Structure-Activity Relationship, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6w23p7z4Test
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3دورية أكاديمية
المؤلفون: Seixas, AI, Loureiro, JR, Costa, C, Ordóñez-Ugalde, A, Marcelino, H, Oliveira, CL, Loureiro, JL, Dhingra, A, Brandão, E, Cruz, VT, Timóteo, A, Quintáns, B, Rouleau, GA, Rizzu, P, Carracedo, A, Bessa, J, Heutink, P, Sequeiros, J, Sobrido, MJ, Coutinho, P, Silveira, I
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: Adaptor Proteins Signal Transducing/genetics, Adaptor Proteins Signal Transducing/metabolism, Adolescent, Adult, Age of Onset, Alleles, Base Sequence, Cerebellum/metabolism, Chromosome Segregation/genetics, Chromosomes Human Pair 1/genetics, DNA Mutational Analysis, DNA Intergenic/genetics, Embryonic Development/genetics, Female, Genetic Predisposition to Disease, HEK293 Cells, Haplotypes/genetics, Humans, Introns/genetics, Male, Microsatellite Repeats/genetics, Middle Aged, Mutagenesis Insertional/genetics, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, Pedigree, Physical Chromosome Mapping, RNA/genetics, RNA Messenger/genetics, RNA Messenger/metabolism
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
العلاقة: info:eu-repo/grantAgreement/FCT/5876-PPCDTI/98305/PT; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F30702%2F2006/PT; info:eu-repo/grantAgreement/FCT/COMPETE/132934/PT; American Journal of Human Geneticst, 101(1), p. 87-103; http://www.sciencedirect.com/science/article/pii/S0002929717302422?via%3DihubTest; http://hdl.handle.net/10216/110348Test
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4دورية أكاديمية
المؤلفون: Hurst L. D., Ghanbarian A. T., Forrest A. R. R., Huminiecki L., Rehli M., Kenneth Baillie J., de Hoon M. J. L., Haberle V., Lassmann T., Kulakovskiy I. V., Lizio M., Itoh M., Andersson R., Mungall C. J., Meehan T. F., Schmeier S., Bertin N., Jorgensen M., Dimont E., Arner E., Schmidl C., Schaefer U., Medvedeva Y. A., Plessy C., Vitezic M., Severin J., Semple C. A., Ishizu Y., Young R. S., Francescatto M., Alam I., Albanese D., Altschuler G. M., Arakawa T., Archer J. A. C., Arner P., Babina M., Baker S., Balwierz P. J., Beckhouse A. G., Pradhan S., Blake J. A., Blumenthal A., Bodega B., Bonetti A., Briggs J., Brombacher F., Maxwell Burroughs A., Califano A., Cannistraci C. V., Carbajo D., Chen Y., Chierici M., Ciani Y., Clevers H. C., Dalla E., Davis C. A., Detmar M., Diehl A. D., Dohi T., Drablos F., Edge A. S. B., Edinger M., Ekwall K., Endoh M., Enomoto H., Fagiolini M., Fairbairn L., Fang H., Farach-Carson M. C., Faulkner G. J., Favorov A. V., Fisher M. E., Frith M. C., Fujita R., Fukuda S., Furlanello C., Furuno M., Furusawa J. -I., Geijtenbeek T. B., Gibson A., Gingeras T., Goldowitz D., Gough J., Guhl S., Guler R., Gustincich S., Ha T. J., Hamaguchi M., Hara M., Harbers M., Harshbarger J., Hasegawa A., Hasegawa Y., Hashimoto T., Herlyn M., Hitchens K. J., Ho Sui S. J., Hofmann O. M., Hoof I., Hori F., Iida K., Ikawa T., Jankovic B. R., Jia H., Joshi A., Jurman G., Kaczkowski B., Kai C., Kaida K., Kaiho A., Kajiyama K., Kanamori M., Kasianov A. S., Kasukawa T., Katayama S., Kato S., Kawaguchi S., Kawamoto H., Kawamura Y. I., Kawashima T., Kempfle J. S., Kenna T. J., Kere J., Khachigian L. M., Kitamura T., Peter Klinken S., Knox A. J., Kojima M., Kojima S., Kondo N., Koseki H., Koyasu S., Krampitz S., Kubosaki A., Kwon A. T., Laros J. F. J., Lee W., Lennartsson A., Li K., Lilje B., Lipovich L., Mackay A., Manabe R., Mar J. C., Marchand B., Mathelier A., Mejhert N., Meynert A., Mizuno Y., de Lima Morais D. A., Morikawa H., Morimoto M., Moro K., Motakis E., Motohashi H., Mummery C. L., Murata M., Nagao S., Nakachi Y., Nakahara F., Nakamura T., Nakamura Y., Nakazato K., van Nimwegen E., Ninomiya N., Nishiyori H., Noma S., Nozaki T., Ogishima S., Ohkura N., Ohmiya H., Ohno H., Ohshima M., Okada M., Okazaki Y., Orlando V., Ovchinnikov D. A., Pain A., Passier R., Patrikakis M., Persson H., Piazza S., Prendergast J. G. D., Rackham O. J. L., Ramilowski J. A., Rashid M., Ravasi T., Rizzu P., Roncador M., Roy S., Rye M. B., Saijyo E., Sajantila A., Saka A., Sakaguchi S., Sakai M., Sato H., Satoh H., Savvi S., Saxena A., Schneider C., Schultes E. A., Schulze-Tanzil G. G., Schwegmann A., Sengstag T., Sheng G., Shimoji H., Shimoni Y., Shin J. W., Simon C., Sugiyama D., Sugiyama T., Suzuki M., Suzuki N., Swoboda R. K., 't Hoen P. A. C., Tagami M., Takahashi N., Takai J., Tanaka H., Tatsukawa H., Tatum Z., Thompson M., Toyoda H., Toyoda T., Valen E., van de Wetering M., van den Berg L. M., Verardo R., Vijayan D., Vorontsov I. E., Wasserman W. W., Watanabe S., Wells C. A., Winteringham L. N., Wolvetang E., Wood E. J., Yamaguchi Y., Yamamoto M., Yoneda M., Yonekura Y., Yoshida S., Zabierowski S. E., Zhang P. G., Zhao X., Zucchelli S., Summers K. M., Suzuki H., Daub C. O., Kawai J., Heutink P., Hide W., Freeman T. C., Lenhard B., Bajic V. B., Taylor M. S., Makeev V. J., Sandelin A., Hume D. A., Carninci P., Hayashizaki Y.
المساهمون: L.D. Hurst, A.T. Ghanbarian, A.R.R. Forrest, L. Huminiecki, M. Rehli, J. Kenneth Baillie, M.J.L. de Hoon, V. Haberle, T. Lassmann, I.V. Kulakovskiy, M. Lizio, M. Itoh, R. Andersson, C.J. Mungall, T.F. Meehan, S. Schmeier, N. Bertin, M. Jorgensen, E. Dimont, E. Arner, C. Schmidl, U. Schaefer, Y.A. Medvedeva, C. Plessy, M. Vitezic, J. Severin, C.A. Semple, Y. Ishizu, R.S. Young, M. Francescatto, I. Alam, D. Albanese, G.M. Altschuler, T. Arakawa, J.A.C. Archer, P. Arner, M. Babina, S. Baker, P.J. Balwierz, A.G. Beckhouse, S. Pradhan, J.A. Blake, A. Blumenthal, B. Bodega, A. Bonetti, J. Brigg, F. Brombacher, A. Maxwell Burrough, A. Califano, C.V. Cannistraci, D. Carbajo, Y. Chen, M. Chierici, Y. Ciani, H.C. Clever, E. Dalla, C.A. Davi, M. Detmar, A.D. Diehl, T. Dohi, F. Drablo, A.S.B. Edge, M. Edinger, K. Ekwall, M. Endoh, H. Enomoto, M. Fagiolini, L. Fairbairn, H. Fang, M.C. Farach-Carson, G.J. Faulkner, A.V. Favorov, M.E. Fisher, M.C. Frith, R. Fujita, S. Fukuda, C. Furlanello, M. Furuno, J.-. Furusawa, T.B. Geijtenbeek, A. Gibson, T. Gingera, D. Goldowitz, J. Gough, S. Guhl, R. Guler, S. Gustincich, T.J. Ha, M. Hamaguchi, M. Hara, M. Harber, J. Harshbarger, A. Hasegawa, Y. Hasegawa, T. Hashimoto, M. Herlyn, K.J. Hitchen, S.J. Ho Sui, O.M. Hofmann, I. Hoof
مصطلحات موضوعية: Animal, Cell Line, Tumor, Cells, Cultured, Chromosomes, Human, Databases, Genetic, Female, Genes, Essential, Genome, Male, Organ Specificity, Retroelement, Sex Characteristic, Species Specificity, Mammalian, Down-Regulation, Gene Expression Regulation, Models, X Chromosome, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26685068; info:eu-repo/semantics/altIdentifier/wos/WOS:000368443000007; volume:13; issue:12; numberofpages:48; journal:PLOS BIOLOGY; http://hdl.handle.net/2434/825309Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84969295765
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المؤلفون: Zhang M1, 2 3, Ferrari R4, Tartaglia MC3, 5 6, Keith J7, Surace EI8, Wolf U9, Sato C3, Grinberg M3, Liang Y3, Xi Z3, Dupont K3, McGoldrick P3, Weichert A3, McKeever PM3, Schneider R3, 6 7, McCorkindale MD4, Manzoni C10, Rademakers R11, Graff-Radford NR12, Dickson DW11, Parisi JE13, Boeve BF14, Petersen RC14, Miller BL15, Seeley WW16, van Swieten JC17, van Rooij J17, Pijnenburg Y18, van der Zee J19, Van Broeckhoven C19, Le Ber I21, Van Deerlin V23, Suh E23, Rohrer JD24, Mead S25, Graff C26, Öijerstedt L26, Pickering-Brown S28, Rollinson S28, Rossi G29, Tagliavini F30, Brooks WS31, Dobson-Stone C32, Halliday GM32, Hodges JR32, Piguet O34, Binetti G36, Benussi L37, Ghidoni R37, Nacmias B38, Sorbi S38, Bruni AC40, Galimberti D41, Scarpini E41, Rainero I42, Rubino E42, Clarimon J43, Lleó A43, Ruiz A45, Hernández I45, Pastor P46, Diez-Fairen M46, Borroni B48, Pasquier F49, Deramecourt V49, Lebouvier T49, Perneczky R50, 51 52, Diehl-Schmid J50, Grafman J53, Huey ED55, Mayeux R55, Nalls MA57, Hernandez D57, Singleton A57, Momeni P58, Zeng Z59, Hardy J4, Robertson J3, Zinman L6, 7, Rogaeva E3, 6, International FTD-Genomics Consortium (IFGC), Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JBJ, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Albani D, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Wald Ouml ML, Nilsson K, Nilsson C, Mackenzie IRA, Hsiung GR, Mann DMA, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JCM, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Van Broeckhoven C, Cappa SF, Leber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Grazia Spillantini M, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Elena Conidi M, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EGP, Seelaar H, Pijnenburg YAL, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebouvier T, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P
المساهمون: Human genetics, Amsterdam Neuroscience - Neurodegeneration, Neurology, Divisions, Zhang, M1, 2, 3, Ferrari, R4, Tartaglia, Mc3, 5, 6, Keith, J7, Surace, Ei8, Wolf, U9, Sato, C3, Grinberg, M3, Liang, Y3, Xi, Z3, Dupont, K3, Mcgoldrick, P3, Weichert, A3, Mckeever, Pm3, Schneider, R3, 6, 7, Mccorkindale, Md4, Manzoni, C10, Rademakers, R11, Graff-Radford, Nr12, Dickson, Dw11, Parisi, Je13, Boeve, Bf14, Petersen, Rc14, Miller, Bl15, Seeley, Ww16, van Swieten, Jc17, van Rooij, J17, Pijnenburg, Y18, van der Zee, J19, Van Broeckhoven, C19, Le Ber, I21, Van Deerlin, V23, Suh, E23, Rohrer, Jd24, Mead, S25, Graff, C26, Öijerstedt, L26, Pickering-Brown, S28, Rollinson, S28, Rossi, G29, Tagliavini, F30, Brooks, Ws31, Dobson-Stone, C32, Halliday, Gm32, Hodges, Jr32, Piguet, O34, Binetti, G36, Benussi, L37, Ghidoni, R37, Nacmias, B38, Sorbi, S38, Bruni, Ac40, Galimberti, D41, Scarpini, E41, Rainero, I42, Rubino, E42, Clarimon, J43, Lleó, A43, Ruiz, A45, Hernández, I45, Pastor, P46, Diez-Fairen, M46, Borroni, B48, Pasquier, F49, Deramecourt, V49, Lebouvier, T49, Perneczky, R50, 51, 52, Diehl-Schmid, J50, Grafman, J53, Huey, Ed55, Mayeux, R55, Nalls, Ma57, Hernandez, D57, Singleton, A57, Momeni, P58, Zeng, Z59, Hardy, J4, Robertson, J3, Zinman, L6, Rogaeva, E3, International FTD-Genomics Consortium, (IFGC), Ferrari, R, Hernandez, Dg, Nalls, Ma, Rohrer, Jd, Ramasamy, A, Kwok, Jbj, Dobson-Stone, C, Brooks, W, Schofield, Pr, Halliday, Gm, Hodges, Jr, Piguet, O, Bartley, L, Thompson, E, Hernández, I, Ruiz, A, Boada, M, Borroni, B, Padovani, A, Cruchaga, C, Cairns, Nj, Benussi, L, Binetti, G, Ghidoni, R, Forloni, G, Albani, D, Galimberti, D, Fenoglio, C, Serpente, M, Scarpini, E, Clarimón, J, Lleó, A, Blesa, R, Wald Ouml, Ml, Nilsson, K, Nilsson, C, Mackenzie, Ira, Hsiung, Gr, Mann, Dma, Grafman, J, Morris, Cm, Attems, J, Griffiths, Td, Mckeith, Ig, Thomas, Aj, Pietrini, P, Huey, Ed, Wassermann, Em, Baborie, A, Jaros, E, Tierney, Mc, Pastor, P, Razquin, C, Ortega-Cubero, S, Alonso, E, Perneczky, R, Diehl-Schmid, J, Alexopoulos, P, Kurz, A, Rainero, I, Rubino, E, Pinessi, L, Rogaeva, E, St George-Hyslop, P, Rossi, G, Tagliavini, F, Giaccone, G, Rowe, Jb, Schlachetzki, Jcm, Uphill, J, Collinge, J, Mead, S, Danek, A, Van Deerlin, Vm, Grossman, M, Trojanowski, Jq, van der Zee, J, Van Broeckhoven, C, Cappa, Sf, Leber, I, Hannequin, D, Golfier, V, Vercelletto, M, Brice, A, Nacmias, B, Sorbi, S, Bagnoli, S, Piaceri, I, Nielsen, Je, Hjermind, Le, Riemenschneider, M, Mayhaus, M, Ibach, B, Gasparoni, G, Pichler, S, Gu, W, Rossor, Mn, Fox, Nc, Warren, Jd, Grazia Spillantini, M, Morris, Hr, Rizzu, P, Heutink, P, Snowden, J, Rollinson, S, Richardson, A, Gerhard, A, Bruni, Ac, Maletta, R, Frangipane, F, Cupidi, C, Bernardi, L, Anfossi, M, Gallo, M, Elena Conidi, M, Smirne, N, Rademakers, R, Baker, M, Dickson, Dw, Graff-Radford, Nr, Petersen, Rc, Knopman, D, Josephs, Ka, Boeve, Bf, Parisi, Je, Seeley, Ww, Miller, Bl, Karydas, Am, Rosen, H, van Swieten, Jc, Dopper, Egp, Seelaar, H, Pijnenburg, Yal, Scheltens, P, Logroscino, G, Capozzo, R, Novelli, V, Puca, Aa, Franceschi, M, Postiglione, A, Milan, G, Sorrentino, P, Kristiansen, M, Chiang, Hh, Graff, C, Pasquier, F, Rollin, A, Deramecourt, V, Lebouvier, T, Kapogiannis, D, Ferrucci, L, Pickering-Brown, S, Singleton, Ab, Hardy, J, Momeni, P, Int FTD-Genomics Consortium IFGC
المصدر: Brain, 141(10), 2895-2907. Oxford University Press
Brain
Zhang, M, Ferrari, R, Tartaglia, M C, Keith, J, Surace, E I, Wolf, U, Sato, C, Grinberg, M, Liang, Y, Xi, Z, Dupont, K, McGoldrick, P, Weichert, A, McKeever, P M, Schneider, R, McCorkindale, M D, Manzoni, C, Rademakers, R, Graff-Radford, N R, Dickson, D W, Parisi, J E, Boeve, B F, Petersen, R C, Miller, B L, Seeley, W W, van Swieten, J C, van Rooij, J, Pijnenburg, Y, van der Zee, J, van Broeckhoven, C, le Ber, I, van Deerlin, V, Suh, E, Rohrer, J D, Mead, S, Graff, C, Öijerstedt, L, Pickering-Brown, S, Rollinson, S, Rossi, G, Tagliavini, F, Brooks, W S, Dobson-Stone, C, Halliday, G M, Hodges, J R, Piguet, O, Binetti, G, Benussi, L, Ghidoni, R, Nacmias, B, Sorbi, S, Bruni, A C, Galimberti, D, Scarpini, E, Rainero, I, Rubino, E, Clarimon, J, Lleó, A, Ruiz, A, Hernández, I, Pastor, P, Diez-Fairen, M, Borroni, B, Pasquier, F, Deramecourt, V, Lebouvier, T, Perneczky, R, Diehl-Schmid, J, Grafman, J, Huey, E D, Mayeux, R, Nalls, M A, Hernandez, D, Singleton, A, Momeni, P, Zeng, Z, Hardy, J, Robertson, J, Zinman, L & Rogaeva, E 2018, ' A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers ', Brain, vol. 141, no. 10, pp. 2895-2907 . https://doi.org/10.1093/brain/awy238Test
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain, 141, 2895-2907. Oxford University Pressمصطلحات موضوعية: Male, Heterozygote, amyotrophic lateral sclerosis, Genotype, genetic association, Age of onset, Polymorphism, Single Nucleotide, frontotemporal dementia, age of onset, C9orf72, Humans, amyotrophic lateral sclerosi, Aged, C9orf72 Protein, Original Articles, DNA Methylation, Middle Aged, Amyotrophic lateral sclerosis, Gene Expression Regulation, Genetic association, CpG Islands, Female, Human medicine, Neurology (clinical), Frontotemporal dementia
وصف الملف: pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d9affbfc7e86881a930ed396130dbf6dTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85054408708&origin=inwardTest -
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المؤلفون: Fernandez-Santiago, R., Martin-Flores, N., Antonelli, F., Cerquera, C., Moreno, V., Bandres-Ciga, S., Manduchi, E., Tolosa, E., Singleton, A.B., Moore, J.H., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Schulte, C., Brockmann, K., Simoon-Saanchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Faghri, F., Gibbs, J.R., Hernandez, D.G., Keuren-Jensen, K. van, Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Scholz, S.W., Reed, X., Alcalay, R.N., Gan-Or, Z., Rouleau, G.A., Krohn, L., Hilten, J.J. van, Marinus, J., Adarmes-Goomez, A.D., Aguilar, I., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botia, J.A., Boungiorno, M.T., Buiza-Rueda, D., Camara, A., Carrillo, F., Carrion-Claro, M., Cerdan, D., Clarimon, J., Compta, Y., Casa, B. de la, Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernandez, M., Garcia, C., Garcia-Ruiz, P., Gomez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesus, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., Arregui, A.L.D., Macias, D., Torres, I.M., Marin, J., Marti, M.J., Martinez-Castrillo, C., Mendez-del-Barrio, C., Gonzalez, M.M., Mata, M., Minguez, A., Mir, P., Rezola, E.M., Munoz, E., Pagonabarraga, J., Pascual-Sedano, B., Pastor, P., Errazquin, F.P., Perinan-Tocino, T., Ruiz-Martinez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Valldeoriola, F., Vargas-Gonzalez, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Malagelada, C., Int Parkinson's Dis Genomics Conso
المساهمون: Fundació La Marató de TV3, Michael J. Fox Foundation for Parkinson's Research, National Institutes of Health (US), Ministerio de Economía y Competitividad (España), Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España)
المصدر: Mov Disord
Movement disorders 34(9), 1333-1344 (2019). doi:10.1002/mds.27770
Digital.CSIC. Repositorio Institucional del CSIC
instname
Movement Disorders, 34(9), 1333-1344
MOVEMENT DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauمصطلحات موضوعية: 0301 basic medicine, epistasis, Male, Parkinson's disease, very elderly, alpha-synuclein, Alpha‐synuclein, regulatory associated protein of mTOR, Cohort Studies, 0302 clinical medicine, single nucleotide polymorphism, genetics, Age of Onset, Genetics, Aged, 80 and over, Polymorphism, Single Nucleoti, biology, TOR Serine-Threonine Kinases, target of rapamycin kinase, fchsd1 gene, Age at onset, Chromosome Mapping, glycogen synthase kinase 3beta, Parkinson Disease, Middle Aged, cohort analysis, LRRK2, priority journal, Neurology, chromosomal mapping, neuromodulation, mTOR, alpha-Synuclein, Female, age at onset, Signal Transduction, onset age, Adult, MTOR protein, human, protein kinase LKB1, gene locus, Genotype, multifactor dimensionality reduction, SNP, Single-nucleotide polymorphism, rps6ka2 gene, Polymorphism, Single Nucleotide, Risk Assessment, Article, brain function, 03 medical and health sciences, alpha synuclein, medicine, Humans, controlled study, Genetic Predisposition to Disease, human, ddc:610, SNCA protein, human, gene, Mechanistic target of rapamycin, PI3K/AKT/mTOR pathway, mammalian target of rapamycin, Aged, RPTOR, Epistasis, Genetic, Odds ratio, medicine.disease, major clinical study, nervous system diseases, 030104 developmental biology, mTOR signaling, biology.protein, Epistasis, pathology, Neurology (clinical), genetic predisposition, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fab7d934f1f6ea0784330ea889bec1Test
https://pubmed.ncbi.nlm.nih.gov/31234232Test -
7دورية أكاديمية
المؤلفون: Rizzu, P. (Patrizia), Hillebrand, M., Ravid, R. (Rivka), Oostra, B.A. (Ben), Duijn, C.M. (Cornelia) van, Goedert, M., Swieten, J.C. (John) van, Joosse, M. (Marijke), Hasegawa, M. (Masato), Stevens, M. (Martijn), Tibben, A. (Arend), Niermeijer, M.F. (Martinus), Heutink, P. (Peter)
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: Mutation, Dementia/epidemiology/*genetics, Female, Frontal Lobe, Gene Deletion, Humans, Male, Middle aged, Missense, Netherlands/epidemiology, Point Mutation, Prevalence, Research Support, Non-U.S. Gov't, Temporal Lobe, tau Proteins/*genetics
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/8481Test; urn:hdl:1765/8481
الإتاحة: http://repub.eur.nl/pub/8481Test
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8دورية أكاديمية
المؤلفون: Kelmemi, W., Teeuw, M. E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., Ten Kate, L. P., Cornel, M. C., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E.
المصدر: BMC medical genetics 16(1), 50 (2015). doi:10.1186/s12881-015-0191-0
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Base Sequence, Case-Control Studies, Congenital Abnormalities: genetics, Consanguinity, Female, Genes, Recessive, Genome, Human: genetics, Genotype, Humans, Male, Pedigree, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Statistics, Nonparametric
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1471-2350; info:eu-repo/semantics/altIdentifier/pmid/pmid:26188928; https://pub.dzne.de/record/138014Test; https://pub.dzne.de/searchTest?p=id:%22DZNE-2020-04336%22
الإتاحة: https://doi.org/10.1186/s12881-015-0191-0Test
https://pub.dzne.de/record/138014Test
https://pub.dzne.de/searchTest?p=id:%22DZNE-2020-04336%22 -
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المؤلفون: Vermeulen, R. J., Peeters-Scholte, C., van Vugt, J. J. M., van Vught, J. J. M. G., Barkhof, F., Rizzu, P., van der Schoor, S. R. D., van der Knaap, M. S.
المساهمون: Other departments, Neuroscience Campus Amsterdam - Neurodegeneration, Neuroscience Campus Amsterdam - Childhood White Matter Diseases, Pediatric surgery, Radiology and nuclear medicine, Human genetics, NCA - Childhood White Matter Diseases, NCA - Neurodegeneration
المصدر: Neuropediatrics, 42(1), 1-3. Hippokrates Verlag GmbH
Vermeulen, R J, Peeters-Scholte, C, Van Vught, J J M G, Barkhof, F, Rizzu, P, van der Schoor, S R D & van der Knaap, M S 2011, ' Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI ', Neuropediatrics, vol. 42, no. 1, pp. 1-3 . https://doi.org/10.1055/s-0031-1275343Test
Neuropediatrics, 42, 1-3
Neuropediatrics, 42, 1, pp. 1-3مصطلحات موضوعية: Collagen Type IV, Male, Pathology, medicine.medical_specialty, Brain damage, Central nervous system disease, SDG 3 - Good Health and Well-being, medicine, Humans, Cerebral Hemorrhage, Fetus, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, Vascular disease, business.industry, Infant, Newborn, Brain, Magnetic resonance imaging, General Medicine, medicine.disease, Porencephaly, Magnetic Resonance Imaging, Mutation (genetic algorithm), Pediatrics, Perinatology and Child Health, Mutation, Fetal hemorrhage, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215fc66eac1823ff6c2dd024ee74631aTest
https://research.vu.nl/en/publications/3f3853b0-f01b-40c6-a533-3ad6b35e0d33Test -
10دورية أكاديمية
المؤلفون: Savioz, A., Riederer, B.M., Heutink, P., Rizzu, P., Tolnay, M., Kövari, E., Probst, A., Riederer, I.M., Bouras, C., Leuba, G.
المصدر: Neurobiology of disease, vol. 12, no. 1, pp. 46-55
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Cerebral Cortex, Child, Chromosomes, Human, Pair 17, Pair 3, Pair 9, Dementia, Female, Genetic Markers, Haplotypes, Humans, Immunohistochemistry, Infant, Newborn, Linkage (Genetics), Male, Membrane Proteins, Nerve Tissue Proteins, Neurofilament Proteins, Neurons, Pedigree, Switzerland, Synaptosomal-Associated Protein 25, tau Proteins
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12609488; info:eu-repo/semantics/altIdentifier/pissn/0969-9961; https://serval.unil.ch/notice/serval:BIB_4EA09A3F6BFFTest
الإتاحة: https://doi.org/10.1016/S0969-9961Test(02)00011-6
https://serval.unil.ch/notice/serval:BIB_4EA09A3F6BFFTest