المؤلفون: Ana Rubio-Araiz, William McCormack, Brian Keogh, Marina A. Lynch, Mary Reilly, Peter McGuirk, Claire L. McDonald, Edel Hennessy

المصدر: Brain, Behavior, and Immunity. 58:191-200

مصطلحات موضوعية: Male, 0301 basic medicine, Genetically modified mouse, Amyloid, Immunology, Mice, Transgenic, Plaque, Amyloid, Hippocampus, Antibodies, Presenilin, Amyloid beta-Protein Precursor, Mice, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Alzheimer Disease, Presenilin-1, Amyloid precursor protein, Animals, Maze Learning, Receptor, Neuroinflammation, biology, Endocrine and Autonomic Systems, P3 peptide, Toll-Like Receptor 2, Cell biology, Disease Models, Animal, TLR2, 030104 developmental biology, Astrocytes, biology.protein, Encephalitis, Female, Microglia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee9d4384e7c590a0264ecd7809ed94cfTest
https://doi.org/10.1016/j.bbi.2016.07.143Test

المؤلفون: Yoko Ito, Keren J. Carss, Sofia T. Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond, Timothy Aitman, David Bennett, Mark Caulfield, Patrick Chinnery, Daniel Gale, Ania Koziell, Taco W. Kuijpers, Michael A. Laffan, Eamonn Maher, Hugh S. Markus, Nicholas W. Morrell, Willem H. Ouwehand, David J. Perry, Irene Roberts, Kenneth G.C. Smith, Adrian Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R. Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Christopher J. Penkett, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Amy Frary, Rachel Linger, Jennifer M. Martin, Sofia Papadia, Karola Rehnstrom, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K. Bariana, Paula Bolton-Maggs, Elizabeth Chalmers, Janine Collins, Peter Collins, Wendy N. Erber, Tamara Everington, Remi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Johanna Gebhart, Keith Gomez, Daniel Greene, Andreas Greinacher, Paolo Gresele, Daniel Hart, Johan W.M. Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M. Kelly, Michele P. Lambert, Claire Lentaigne, Ri Liesner, Mike Makris, Sarah Mangles, Mary Mathias, Carolyn M. Millar, Andrew Mumford, Paquita Nurden, Jeanette Payne, John Pasi, Kathelijne Peerlinck, Shoshana Revel-Vilk, Michael Richards, Matthew Rondina, Catherine Roughley, Sol Schulman, Harald Schulze, Marie Scully, Suthesh Sivapalaratnam, Matthew Stubbs, R. Campbell Tait, Kate Talks, Jecko Thachil, Cheng-Hock Toh, Ernest Turro, Chris Van Geet, Minka De Vries, Timothy Q. Warner, Henry Watson, Sarah Westbury, Abigail Furnell, Rutendo Mapeta, Paula Rayner-Matthews, Ilenia Simeoni, Simon Staines, Jonathan Stephens, Christopher Watt, Deborah Whitehorn, Antony Attwood, Louise Daugherty, Sri V.V. Deevi, Csaba Halmagyi, Fengyuan Hu, Vera Matser, Stuart Meacham, Karyn Megy, Olga Shamardina, Catherine Titterton, Salih Tuna, Ping Yu, Julie von Ziegenweldt, William Astle, Marta Bleda, Stefan Gräf, Matthias Haimel, Hana Lango-Allen, Sylvia Richardson, Paul Calleja, Stuart Rankin, Wojciech Turek, Julie Anderson, Christine Bryson, Jenny Carmichael, Coleen McJannet, Sophie Stock, Louise Allen, Gautum Ambegaonkar, Ruth Armstrong, Gavin Arno, Maria Bitner-Glindzicz, Angie Brady, Natalie Canham, Manali Chitre, Emma Clement, Virginia Clowes, Patrick Deegan, Charu Deshpande, Rainer Doffinger, Helen Firth, Frances Flinter, Courtney French, Alice Gardham, Neeti Ghali, Paul Gissen, Detelina Grozeva, Robert Henderson, Anke Hensiek, Simon Holden, Muriel Holder, Susan Holder, Jane Hurst, Dragana Josifova, Deepa Krishnakumar, Melissa Lees, Robert MacLaren, Anna Maw, Sarju Mehta, Michel Michaelides, Anthony Moore, Elaine Murphy, Soo-Mi Park, Alasdair Parker, Chris Patch, Joan Paterson, Julia Rankin, Evan Reid, Elisabeth Rosser, Richard Sandford, Saikat Santra, Richard Scott, Aman Sohal, Penelope Stein, Ellen Thomas, Dorothy Thompson, Marc Tischkowitz, Julie Vogt, Emma Wakeling, Evangeline Wassmer, Andrew Webster, Sonia Ali, Souad Ali, Harm J. Boggard, Colin Church, Gerry Coghlan, Victoria Cookson, Paul A. Corris, Amanda Creaser-Myers, Rosa DaCosta, Natalie Dormand, Mélanie Eyries, Henning Gall, Pavandeep K. Ghataorhe, Stefano Ghio, Ardi Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Alan Greenhalgh, Charaka Hadinnapola, Arjan C. Houweling, Marc Humbert, Anna Huis in’t Veld, Fiona Kennedy, David G. Kiely, Gabor Kovacs, Allan Lawrie, Rob V. Mackenzie Ross, Rajiv Machado, Larahmie Masati, Sharon Meehan, Shahin Moledina, David Montani, Shokri Othman, Andrew J. Peacock, Joanna Pepke-Zaba, Val Pollock, Gary Polwarth, Lavanya Ranganathan, Christopher J. Rhodes, Kevin Rue-Albrecht, Gwen Schotte, Debbie Shipley, Florent Soubrier, Laura Southgate, Laura Scelsi, Jay Suntharalingam, Yvonne Tan, Mark Toshner, Carmen M. Treacy, Richard Trembath, Anton Vonk Noordegraaf, Sara Walker, Ivy Wanjiku, John Wharton, Martin Wilkins, Stephen J. Wort, Katherine Yates, Hana Alachkar, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Claire Booth, Michael Browning, Siobhan Burns, Anita Chandra, Nichola Cooper, Sophie Davies, Lisa Devlin, Elizabeth Drewe, David Edgar, William Egner, Rohit Ghurye, Kimberley Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Aarnoud Huissoon, Stephen Jolles, Peter Kelleher, Dinakantha Kumararatne, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Sai Murng, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Isabella Quinti, Alex Richter, Crina Samarghitean, Ravishankar Sargur, Sinisa Savic, Suranjith Seneviratne, Carrock Sewell, Emily Staples, Hans Stauss, James Thaventhiran, Moira Thomas, Steve Welch, Lisa Willcocks, Nigel Yeatman, Patrick Yong, Phil Ancliff, Christian Babbs, Mark Layton, Eleni Louka, Simon McGowan, Adam Mead, Noémi Roy, Jenny Chambers, Peter Dixon, Cecelia Estiu, Bill Hague, Hanns-Ulrich Marschall, Michael Simpson, Sam Chong, Ingrid Emmerson, Lionel Ginsberg, David Gosal, Rob Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Andrew Marshall, Emma Matthews, Mark McCarthy, Mary Reilly, Tara Renton, Andrew Rice, Andreas Themistocleous, Tom Vale, Natalie Van Zuydam, Suellen Walker, Liz Ormondroyd, Gavin Hudson, Wei Wei, Patrick Yu Wai Man, James Whitworth, Maryam Afzal, Elizabeth Colby, Moin Saleem, Omid S. Alavijeh, H. Terry Cook, Sally Johnson, Adam P. Levine, Edwin K.S. Wong, Rhea Tan, Alex MacKenzie, Jacek Majewski, Michael Brudno, Dennis Bulman, David Dyment

المساهمون: Freson, Kathleen, Peerlinck, Kathelijne, Van Geet, Christel, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, MUMC+: DA CDL Algemeen (9), Med Microbiol, Infect Dis & Infect Prev, Medical Research Council (MRC), Clinical Cognitive Neuropsychiatry Research Program (CCNP), APH - Aging & Later Life, Pediatric surgery, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer biology and immunology, CCA - Cancer Treatment and quality of life, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care, Molecular cell biology and Immunology

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001Test
NIHR BioResource & Care4Rare Canada Consortium 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ', American journal of human genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001Test
American Journal of Human Genetics, 103, 1, pp. 144-153
American journal of human genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics, 103, 144-153
American Journal of Human Genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 103(1), 144-153. CELL PRESS

مصطلحات موضوعية: 0301 basic medicine, Male, Care4Rare Canada Consortium, WAVE FAMILY PROTEINS, actin cytoskeleton, PROTEIN, HDE NEU PED, medicine.disease_cause, Whole Exome Sequencing, 0302 clinical medicine, Neurodevelopmental disorder, SYNAPTIC PLASTICITY, Intellectual disability, WAVE1 complex, PLASTICITY, EXCHANGE, 11 Medical and Health Sciences, Exome sequencing, Genetics (clinical), seizures, Genetics & Heredity, Genetics, Mutation, WASF1, DENDRITIC SPINES, developmental delay, Female, DISEASE GENE-DISCOVERY, Adult, Heterozygote, GENES, DISORDERS, autism, Biology, ACTIN, 03 medical and health sciences, Young Adult, Seizures, Report, Intellectual Disability, Exome Sequencing, medicine, Humans, PROTRUSIONS, recurrent de novo truncating mutations, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, lamellipodia, neurodevelopmental disorder, Actin remodeling, Heterozygote advantage, NIHR BioResource, 06 Biological Sciences, medicine.disease, Actin cytoskeleton, Wiskott-Aldrich Syndrome Protein Family, 030104 developmental biology, WAVE, RETARDATION, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e43f56c5f8f4fc2a8ec6c48ba94bc318Test
https://lirias.kuleuven.be/handle/123456789/625653Test

المؤلفون: Michael Lunn, Michael Hanna, Robin Howard, Matthew Parton, Shamima Rahman, Mary Reilly, Katie Sidle, Christopher Turner

المصدر: Neurology: A Queen Square Textbook

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Myasthenic crisis, medicine.disease, Neuromuscular junction, Surgery, Inherited neuropathies, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Muscle disease, medicine.anatomical_structure, Anterior Horn Cell, Peripheral nervous system, Medicine, business, Rhabdomyolysis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ed165e86a451a675dff4f0f10ccd82aTest
https://doi.org/10.1002/9781118486160.ch10Test

المؤلفون: Steven H. Sacks, Ming Hui Zhao, Piero Ruggenenti, Ralph Kettritz, Stephen R. Holdsworth, Steffen Frese, Kumar Sharma, Liz Lightstone, Hans-Joachim Anders, Jeremy S. Duffield, Rosanna Coppo, Alberto Fierro, Dick de Zeeuw, Ladan Mansouri, Jeremy Hughes, Nicola M. Tomas, Stephen P. McAdoo, Chaim Putterman, Adeera Levin, Yusuke Suzuki, Paul Brunetta, Andrew J. Rees, Samir M. Parikh, Loïc Guillevin, Satish Kumar Devarapu, Catherine Meyer-Schwesinger, Ton J. Rabelink, Larissa Lapteva, Thomas J. Schall, Christian Krebs, Charles D. Pusey, Mary Reilly, Anne Davidson, Jürgen Floege, Jinhua Li, Brad H. Rovin, Giuseppe Remuzzi, Eoin F. McKinney, Ulf Panzer, Dirk Eulberg, Malte A. Kluger, David Jayne, Matthias Mack, Andreas Radbruch, Marlies E.J. Reinders

المساهمون: Arthritis Research UK, Groningen Kidney Center (GKC)

المصدر: Kidney International Reports, Vol 1, Iss 4, Pp 327-339 (2016)
Kidney International Reports, 1(4), 327-339
Kidney International Reports
Kidney international / Reports 1(4), 327-339 (2016). doi:10.1016/j.ekir.2016.06.009
Anders, H J, Rovin, B, Jayne, D, Brunetta, P, Coppo, R, Davidson, A, Devarapu, S K, de Zeeuw, D, Duffield, J, Eulberg, D, Fierro, A, Floege, J, Frese, S, Guillevin, L, Holdsworth, S, Hughes, J, Kettritz, R, Kluger, M, Krebs, C, Lapteva, L, Levin, A, Li, J, Lightstone, L, Mack, M, Mansouri, L, McAdoo, S, McKinney, E, Panzer, U, Parikh, S, Pusey, C, Putterman, C, Rabelink, T, Radbruch, A, Rees, A, Reilly, M, Reinders, M, Remuzzi, G, Ruggenenti, P, Sacks, S, Schall, T J, Meyer-Schwesinger, C, Sharma, K, Suzuki, Y, Tomas, N M & Zhao, M H 2016, ' ISN Nexus 2016 Symposia : Translational Immunology in Kidney Disease—The Berlin Roadmap ', Kidney International Reports, vol. 1, no. 4, pp. 327-339 . https://doi.org/10.1016/j.ekir.2016.06.009Test
Kidney International Reports, 1(4), 327-339. ELSEVIER SCIENCE INC

مصطلحات موضوعية: 0301 basic medicine, Nephrology, DOMAIN-CONTAINING 7A, medicine.medical_specialty, MONOCLONAL-ANTIBODY, PROLIFERATIVE LUPUS NEPHRITIS, 030232 urology & nephrology, Alternative medicine, Translational research, MESENCHYMAL STROMAL CELLS, Meeting Report, lcsh:RC870-923, vasculitis, Biological drugs, 03 medical and health sciences, 0302 clinical medicine, stem cells, Internal medicine, NEPHROTIC SYNDROME, medicine, DELAYS RENAL-FAILURE, MYCOPHENOLATE-MOFETIL, INDUCTION TREATMENT, Pharmaceutical industry, Science & Technology, business.industry, autoimmunity, ALPORT-SYNDROME, lupus, Urology & Nephrology, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, 3. Good health, 030104 developmental biology, MEMBRANOUS NEPHROPATHY, inflammation, Immunology, rejection, business, Nexus (standard), Life Sciences & Biomedicine, Kidney disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8a6c1eec9e0548e1295aca329fb615Test
http://hdl.handle.net/10044/1/53394Test

المؤلفون: Paul W. H. I. Parren, Markus Enzelberger, John M. Lambert, Paul Carter, Mary Reilly, Tim Jones, John McCafferty, David C. Lowe, Mike Clark, Julian Davies, Dimiter S. Dimitrov, Max Vásquez, Isidro Hötzel, Robert G.E. Holgate, Jane A. Gross, Bassil I. Dahiyat, Kerry A. Chester, Matthew P. Baker, Martin Steegmaier, John S. Haurum, Martin J. Glennie, Victoria C. Smith, Dennis R. Burton, Richard A.J. Janssen, Stefan Dübel, Andrew George Popplewell, Hendrik J. Rademaker, Andrew Bradbury, Andreas Plückthun, Herren Wu, Thomas Schirrmann, S. L. Martin, Adam Walker, James S. Huston

المصدر: mAbs, 8(1), 1-9
mAbs

مصطلحات موضوعية: 0301 basic medicine, medicine.drug_class, International Immunogenetics Information System (IMGT), Immunology, monoclonal, Scientific literature, Computational biology, Monoclonal antibody, World Health Organization (WHO), Antibodies, World health, Scientific evidence, 03 medical and health sciences, framework, Terminology as Topic, antibody, medicine, Animals, Humans, Immunology and Allergy, definition, Complementarity Determining Region (CDR), International Nonproprietary Name (INN), biology, humanized, business.industry, Expert group, 030104 developmental biology, Drug development, chimeric, Perspective, Identity (object-oriented programming), biology.protein, Antibody, business

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d55402fa482d0701933474f61cc2ce70Test
http://hdl.handle.net/1887/106996Test