المؤلفون: Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/1861832d934c49a490f60c7997786e48

المؤلفون: Theresa N. T. Dang, Carol Dobson-Stone, Elias N. Glaros, Woojin S. Kim, Marianne Hallupp, Lauren Bartley, Olivier Piguet, John R. Hodges, Glenda M. Halliday, Kay L. Double, Peter R. Schofield, Peter J. Crouch, John B. J. Kwok

المصدر: Disease Models & Mechanisms, Vol 6, Iss 5, Pp 1198-1204 (2013)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/6/5/1198; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/652819affd724e67a4c39f977e1db999

المؤلفون: Jiang, Shan, Wen, Natalie, Zeran, Li, Dube, Umber, Del Aguila, Jorge, Budde, John, Martinez, Rita, Hsu, Simon, Fernandez, Maria V, Cairns, Nigel J, Harari, Oscar, Cruchaga, Carlos, Karch, Celeste MRaffaele Ferrari, Dena, G Hernandez, Michael, A Nalls, Jonathan, D Rohrer, Adaikalavan, Ramasamy, John B, J Kwok, Carol, Dobson-Stone, William, S Brooks, Peter, R Schofield, Glenda, M Halliday, John, R Hodges, Olivier, Piguet, Lauren, Bartley, Elizabeth, Thompson, Eric, Haan, Isabel, Hernández, Agustín, Ruiz, Mercè, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Nigel, J Cairns, Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigi, Forloni, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, Jordi, Clarimón, Alberto, Lleó, Rafael, Blesa, Maria Landqvist Waldö, Karin, Nilsson, Christer, Nilsson, Ian R, A Mackenzie, Ging-Yuek, R Hsiung, David M, A Mann, Jordan, Grafman, Christopher, M Morris, Johannes, Attems, Timothy, D Griffiths, Ian, G McKeith, Alan, J Thomas, Pietrini, P, Edward, D Huey, Eric, M Wassermann, Atik, Baborie, Evelyn, Jaros, Michael, C Tierney, Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robert, Perneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Lorenzo, Pinessi, Ekaterina, Rogaeva, Peter St George-Hyslop, Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, James, B Rowe, Johannes C, M Schlachetzki, James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Vivianna, M Van Deerlin, Murray, Grossman, John, Q Trojanowski, Julie van der Zee, William, Deschamps, Tim Van Langenhove, Marc, Cruts, Christine Van Broeckhoven, Stefano, F Cappa, Isabelle Le Ber, Didier, Hannequin, Véronique, Golfier, Martine, Vercelletto, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Jørgen, E Nielsen, Lena, E Hjermind, Matthias, Riemenschneider, Manuel, Mayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Martin, N Rossor, Nick, C Fox, Jason, D Warren, Maria Grazia Spillantini, Huw, R Morris, Patrizia, Rizzu, Peter, Heutink, Julie, S Snowden, Sara, Rollinson, Anna, Richardson, Alexander, Gerhard, Amalia, C Bruni, Raffaele, Maletta, Francesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dennis, W Dickson, Neill, R Graff-Radford, Ronald, C Petersen, David, Knopman, Keith, A Josephs, Bradley, F Boeve, Joseph, E Parisi, William, W Seeley, Bruce, L Miller, Anna, M Karydas, Howard, Rosen, John, C van Swieten, Elise G, P Dopper, Harro, Seelaar, Yolande A, L Pijnenburg, Philip, Scheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Annibale, A Puca, Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolo, Sorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Florence, Pasquier, Adeline, Rollin, Vincent, Deramecourt, Florence, Lebert, Dimitrios, Kapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Andrew, B Singleton, John, Hardy, Parastoo, Momeni

المصدر: Translational Psychiatry
Translational Psychiatry, Vol 8, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Tau protein, Induced Pluripotent Stem Cells, tau Proteins, medicine.disease_cause, Article, lcsh:RC321-571, Progressive supranuclear palsy, 03 medical and health sciences, Cellular and Molecular Neuroscience, Receptors, GABA, medicine, Animals, Humans, Induced pluripotent stem cell, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Aged, Aged, 80 and over, Neurons, Mutation, biology, Brain, Frontotemporal lobar degeneration, Human brain, medicine.disease, 3. Good health, Cell biology, Mice, Inbred C57BL, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, biology.protein, Female, Tauopathy, Supranuclear Palsy, Progressive, CRISPR-Cas Systems, Frontotemporal Lobar Degeneration, Transcriptome, Frontotemporal dementia, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff549d09872bb33873f2273e1f542efd
http://europepmc.org/articles/PMC6293323

المؤلفون: Carol, Dobson-Stone, John B J, Kwok

المصدر: Methods in molecular biology (Clifton, N.J.). 1523

مصطلحات موضوعية: Adult, Tauopathies, Pregnancy, Frontotemporal Dementia, RNA Splicing, DNA Mutational Analysis, Mutation, Humans, Female, Exons, Polymerase Chain Reaction, Introns

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0477fe0ce56c334dcf89525e7fc55ce8
https://pubmed.ncbi.nlm.nih.gov/27975259

المؤلفون: Carol Dobson-Stone, Patsie Polly, Mayuresh S Korgaonkar, Leanne M Williams, Evian Gordon, Peter R Schofield, Karen Mather, Nicola J Armstrong, Wei Wen, Perminder S Sachdev, John B J Kwok

المصدر: Public Library of Science, PLOS ONE. 8(8):1-7

الإتاحة: https://ideas.repec.org/a/plo/pone00/0071750.html

المؤلفون: Carol, Dobson-Stone, Alex D, Shaw, Marianne, Hallupp, Lauren, Bartley, Heather, McCann, William S, Brooks, Clement T, Loy, Peter R, Schofield, Karen A, Mather, Nicole A, Kochan, Perminder S, Sachdev, Glenda M, Halliday, Olivier, Piguet, John R, Hodges, John B J, Kwok

المصدر: Brain : a journal of neurology. 138(Pt 10)

مصطلحات موضوعية: Male, Mitochondrial Proteins, Mitochondrial Diseases, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Humans, Female, DNA, Mitochondrial, Mitochondria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::39252e7d290b20e57a912a1fa73f21bd
https://pubmed.ncbi.nlm.nih.gov/25953779

المؤلفون: Kirsten G, Coupland, George D, Mellick, Peter A, Silburn, Karen, Mather, Nicola J, Armstrong, Perminder S, Sachdev, Henry, Brodaty, Yue, Huang, Glenda M, Halliday, Marianne, Hallupp, Woojin S, Kim, Carol, Dobson-Stone, John B J, Kwok

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Genotype, Brain, Parkinson Disease, tau Proteins, DNA Methylation, Middle Aged, Transfection, Antioxidants, Article, Cohort Studies, Neuroblastoma, Cell Line, Tumor, Leukocytes, Mononuclear, Humans, Vitamin E, Female, Promoter Regions, Genetic, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3f16096fecdddb807624db831678d237
https://europepmc.org/articles/PMC4074263/

المؤلفون: Jenny, Wong, Brett, Garner, Glenda M, Halliday, John B J, Kwok

المصدر: Journal of neurochemistry. 123(1)

مصطلحات موضوعية: Male, RNA Splicing, Neuroblastoma, Alzheimer Disease, Cell Line, Tumor, RNA Precursors, Humans, Protein Isoforms, Receptor, trkB, RNA, Messenger, RNA, Small Interfering, Aged, Aged, 80 and over, Analysis of Variance, Amyloid beta-Peptides, Binding Sites, Serine-Arginine Splicing Factors, Brain, RNA-Binding Proteins, Exons, Microarray Analysis, Peptide Fragments, Gene Expression Regulation, Female, Transcriptome, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3cb1e6b676cb16fb29d8603b7bbdbfcb
https://pubmed.ncbi.nlm.nih.gov/22788679

المؤلفون: Helena Karlstrom, William S Brooks, John B J Kwok, Jillian J Kril, Glenda M Halliday, Peter R Schofield

المصدر: Genotype — Proteotype — Phenotype Relationships in Neurodegenerative Diseases ISBN: 9783540248354

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4d2759604b2307e77384228a94e75d11
https://doi.org/10.1007/3-540-26522-8_7

المؤلفون: Lois M. Mulligan, John B. J. Kwok, Catherine S. Healey, Mark J. Elsdon, Charis Eng, Emily Gardner, Donald R. Love, Sara E. Mole, Julie K. Moore, Laura Papi, Margaret A. Ponder, Hakan Telenius, Alan Tunnacliffe, Bruce A. J. Ponder

المصدر: Nature. 363(6428)

مصطلحات موضوعية: endocrine system, Heterozygote, endocrine system diseases, Oncogene RET, DNA Mutational Analysis, Molecular Sequence Data, DNA, Single-Stranded, Multiple endocrine neoplasia type 2, Pheochromocytoma, Biology, RET proto-oncogene, medicine.disease_cause, Polymerase Chain Reaction, Proto-Oncogene Mas, Proto-Oncogene Proteins, Proto-Oncogenes, medicine, Drosophila Proteins, Humans, Amino Acid Sequence, Cysteine, Thyroid Neoplasms, Codon, Mutation, Multidisciplinary, Base Sequence, Point mutation, RET Gene Mutation, Carcinoma, Multiple Endocrine Neoplasia, Proto-Oncogene Proteins c-ret, Receptor Protein-Tyrosine Kinases, DNA, Neoplasm, Protein-Tyrosine Kinases, medicine.disease, Germ Cells, Cancer research, Multiple endocrine neoplasia type 2b

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22489b7cac766778bf27950000d2aaae
https://pubmed.ncbi.nlm.nih.gov/8099202