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1دورية أكاديمية
المؤلفون: Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, for UD-PrOZA
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Rare diseases, UD-PrOZA, Diagnostic odyssey, Whole exome sequencing, Diagnostic yield, MAP3K7, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Lauren Versluys, Pedro Ervilha Pereira, Nika Schuermans, Boel De Paepe, Jan L. De Bleecker, Elke Bogaert, Bart Dermaut
المصدر: Frontiers in Neuroscience, Vol 16 (2022)
مصطلحات موضوعية: TDP-43 proteinopathy, neurons, muscles, neurodegeneration, myopathy, ALS, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Elke Bogaert, Steven Boeynaems, Masato Kato, Lin Guo, Thomas R. Caulfield, Jolien Steyaert, Wendy Scheveneels, Nathalie Wilmans, Wanda Haeck, Nicole Hersmus, Joost Schymkowitz, Frederic Rousseau, James Shorter, Patrick Callaerts, Wim Robberecht, Philip Van Damme, Ludo Van Den Bosch
المصدر: Cell Reports, Vol 24, Iss 3, Pp 529-537.e4 (2018)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boel De Paepe, Sami J. Barmada, James Shorter, Jan L. De Bleecker, Elke Bogaert, Bart Dermaut
المصدر: Acta neuropathologica
ACTA NEUROPATHOLOGICAمصطلحات موضوعية: Cellular and Molecular Neuroscience, TDP-43, Myopathy, Medicine and Health Sciences, Phase separation, Genetics, Biology and Life Sciences, Drosophila, FTD, Human medicine, Neurology (clinical), ALS, Pathology and Forensic Medicine
وصف الملف: application/pdf
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المؤلفون: Marine Denechaud, Sarah Geurs, Thomas Comptdaer, Séverine Bégard, Alejandro Garcia-Núñez, Louis-Adrien Pechereau, Thomas Bouillet, Yannick Vermeiren, Peter P. De Deyn, Romain Perbet, Vincent Deramecourt, Claude-Alain Maurage, Michiel Vanderhaegen, Sebastiaan Vanuytven, Bruno Lefebvre, Elke Bogaert, Nicole Déglon, Thierry Voet, Morvane Colin, Luc Buée, Bart Dermaut, Marie-Christine Galas
المصدر: Progress in neurobiology
Progress in neurobiology 223 (2023)
PROGRESS IN NEUROBIOLOGY
Progress in neurobiology, 223
Progress in neurobiology, vol. 223, pp. 102386مصطلحات موضوعية: Pro-survival, Oxidative stress, General Neuroscience, Humans, Mice, Animals, Alzheimer Disease/metabolism, tau Proteins/metabolism, S Phase, Phosphorylation, Oxidative Stress, Neurons/metabolism, Amyloid beta-Peptides/metabolism, Alzheimer’s disease, Cell cycle, S phase, Tau, Medicine and Health Sciences, Biology and Life Sciences, Human medicine, Alzheimer's disease
وصف الملف: text/html; application/pdf; application/octet-stream; Print-Electronic
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المؤلفون: Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello
المساهمون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, Leblanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, Mcconkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio
المصدر: AMERICAN JOURNAL OF HUMAN GENETICS
مصطلحات موضوعية: SRSF1, splicing, epigenetic signature, Medicine and Health Sciences, Genetics, Drosophila, neurodevelopmental disorder, Genetics (clinical), haploinsufficiency
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5551e236309b7081069f46ca7428ec
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM -
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المؤلفون: Lin Guo, Nathalie Wilmans, Wendy Scheveneels, Frederic Rousseau, Ludo Van Den Bosch, Nicole Hersmus, Jolien Steyaert, Steven Boeynaems, Masato Kato, Patrick Callaerts, Wanda Haeck, Philip Van Damme, James Shorter, Elke Bogaert, Thomas R. Caulfield, Joost Schymkowitz, Wim Robberecht
المصدر: Cell Reports, Vol 24, Iss 3, Pp 529-537.e4 (2018)
Cell Reports
CELL REPORTSمصطلحات موضوعية: 0301 basic medicine, amyotrophic lateral sclerosis, RNA-binding protein, Protein aggregation, AMYOTROPHIC-LATERAL-SCLEROSIS, Medicine and Health Sciences, Drosophila Proteins, ARGININE METHYLATION, Amyotrophic lateral sclerosis, lcsh:QH301-705.5, Motor Neurons, biology, Frontotemporal lobar degeneration, 3. Good health, Cell biology, Drosophila melanogaster, frontotemporal lobar degeneration, Life Sciences & Biomedicine, Drosophila Protein, RNA-BINDING PROTEINS, Protein domain, Motor Activity, Arginine, General Biochemistry, Genetics and Molecular Biology, Article, protein aggregation, PRION-LIKE DOMAINS, LIQUID DROPLETS, 03 medical and health sciences, Structure-Activity Relationship, prion-like domain, Stress granule, Protein Domains, NUCLEAR IMPORT RECEPTOR, Cell Line, Tumor, medicine, Animals, Humans, Amino Acid Sequence, FUS, FRONTOTEMPORAL LOBAR DEGENERATION, Science & Technology, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, STRESS GRANULES, Biology and Life Sciences, Cell Biology, biology.organism_classification, medicine.disease, intrinsically disordered protein, 030104 developmental biology, lcsh:Biology (General), phase transition, Nerve Degeneration, low-complexity domain, LLPS, ALS, PHASE-SEPARATION
وصف الملف: Print; application/pdf
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المؤلفون: Philip Van Damme, Ludo Van Den Bosch, Joni Vanneste, Wendy Scheveneels, Patrick Callaerts, Wim Robberecht, Jolien Steyaert, Elke Bogaert
المصدر: Human Molecular Genetics
HUMAN MOLECULAR GENETICSمصطلحات موضوعية: 0301 basic medicine, Male, Receptors, Cytoplasmic and Nuclear, Apoptosis, Biology, Karyopherins, Protein Aggregation, Pathological, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Medicine and Health Sciences, Gene silencing, Animals, Drosophila Proteins, Humans, Amyotrophic lateral sclerosis, Molecular Biology, Genetics (clinical), Neurons, Crustacean cardioactive peptide, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, Nucleocytoplasmic Transport Proteins, Amyotrophic Lateral Sclerosis, Neuropeptides, Neurotoxicity, Biology and Life Sciences, General Medicine, Motor neuron, medicine.disease, 3. Good health, Cell biology, Nuclear Pore Complex Proteins, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Nucleocytoplasmic Transport, Frontotemporal Dementia, Mutation, RNA-Binding Protein FUS, Drosophila, Female, General Article, 030217 neurology & neurosurgery
وصف الملف: Print; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86f291646196c1d3b9f9e897afde557
https://pubmed.ncbi.nlm.nih.gov/30379317 -
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المؤلفون: Shuying Sun, Steven Boeynaems, Gregor Bieri, Aaron D. Gitler, Nicholas J. Kramer, Shizuka B. Yamada, Joseph W. Paul, Wim Robberecht, Ludo Van Den Bosch, Joseph R. Herdy, Jerome Mertens, Fred H. Gage, Noori Chai, Ana Jovičić, Elke Bogaert
المصدر: Nature Neuroscience. 18:1226-1229
مصطلحات موضوعية: Genetics, General Neuroscience, Neurodegeneration, DNA Repeat Expansion, Biology, medicine.disease, 3. Good health, C9orf72 Protein, C9orf72, Nucleocytoplasmic Transport, Karyopherins, medicine, Amyotrophic lateral sclerosis, Neuroscience, Frontotemporal dementia
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المؤلفون: André Bento-Abreu, Mieke Timmers, Ludo Van Den Bosch, Tania F. Gendron, Philip Van Damme, Bart Swinnen, Rik Nuyts, Elke Bogaert, Sarah Mizielinska, Wendy Scheveneels, Leonard Petrucelli, Wim Robberecht, Adrian M. Isaacs, Nicole Hersmus, Steven Boeynaems, Jiou Wang, Robin Lemmens
المصدر: ACTA NEUROPATHOLOGICA
Swinnen, B, Bento-Abreu, A, Gendron, T F, Boeynaems, S, Bogaert, E, Nuyts, R, Timmers, M, Scheveneels, W, Hersmus, N, Wang, J, Mizielinska, S, Isaacs, A M, Petrucelli, L, Lemmens, R, Van Damme, P, Van Den Bosch, L & Robberecht, W 2018, ' A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism ', Acta Neuropathologica, vol. 135, no. 3, pp. 427-443 . https://doi.org/10.1007/s00401-017-1796-5
Acta Neuropathologicaمصطلحات موضوعية: 0301 basic medicine, Pur-alpha, Pathology and Forensic Medicine, Pathogenesis, Animals, Genetically Modified, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, C9orf72, Sense (molecular biology), medicine, Medicine and Health Sciences, Escherichia coli, Animals, Humans, Amyotrophic lateral sclerosis, Zebrafish, Motor Neurons, DNA Repeat Expansion, biology, C9orf72 Protein, p62, Amyotrophic Lateral Sclerosis, Gene Transfer Techniques, RNA, Biology and Life Sciences, RNA toxicity, biology.organism_classification, medicine.disease, Axons, Cell biology, Disease Models, Animal, 030104 developmental biology, Toxicity, DPR, Neurology (clinical), ALS, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Print-Electronic