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المؤلفون: Suzanne S. M. Miedema, Merel O. Mol, Frank T. W. Koopmans, David C. Hondius, Pim van Nierop, Kevin Menden, Christina F. de Veij Mestdagh, Jeroen van Rooij, Andrea B. Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E. van Kesteren, John C. van Swieten, Peter Heutink, August B. Smit
المساهمون: Molecular and Cellular Neurobiology, Amsterdam Neuroscience - Neurodegeneration, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, AIMMS, Center for Neurogenomics and Cognitive Research, Pathology, VU University medical center, Neurology, Internal Medicine
المصدر: Acta Neuropathologica Communications, 10:100, 1-20. BioMed Central
Acta Neuropathologica Communications 10, 100 (2022). doi:10.1186/s40478-022-01387-8
Acta neuropathologica communications, 10(1):100. BioMed Central
Miedema, S S M, Mol, M O, Koopmans, F T W, Hondius, D C, van Nierop, P, Menden, K, de Veij Mestdagh, C F, van Rooij, J, Ganz, A B, Paliukhovich, I, Melhem, S, Li, K W, Holstege, H, Rizzu, P, van Kesteren, R E, van Swieten, J C, Heutink, P & Smit, A B 2022, ' Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia ', Acta neuropathologica communications, vol. 10, no. 1, 100 . https://doi.org/10.1186/s40478-022-01387-8
Miedema, S S M, Mol, M O, Koopmans, F T W, Hondius, D C, van Nierop, P, Menden, K, de Veij Mestdagh, C F, van Rooij, J, Ganz, A B, Paliukhovich, I, Melhem, S, Li, K W, Holstege, H, Rizzu, P, van Kesteren, R E, van Swieten, J C, Heutink, P & Smit, A B 2022, ' Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia ', Acta Neuropathologica Communications, vol. 10, 100, pp. 1-20 . https://doi.org/10.1186/s40478-022-01387-8
Acta neuropathologica communications, 10(1):100. BioMed Central Ltd.مصطلحات موضوعية: Proteomics, genetics [Mutation], MAPT protein, human, tau Proteins, Pathology and Forensic Medicine, genetics [Progranulins], Cellular and Molecular Neuroscience, Progranulins, Pick Disease of the Brain, metabolism [Endothelial Cells], MAPT, Humans, ddc:610, genetics [Frontotemporal Dementia], genetics [Intercellular Signaling Peptides and Proteins], Cell type enrichment, Endothelial Cells, metabolism [tau Proteins], genetics [tau Proteins], Mutation, pathology [Frontotemporal Dementia], GRN protein, human, Human brain proteomics, Intercellular Signaling Peptides and Proteins, Neurology (clinical), Frontotemporal dementia, GRN
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المؤلفون: Martin H. Schludi, Markus Damme, Wolfgang Wurst, Matthias Brendel, Dieter Edbauer, Katrin Fellerer, Anja Capell, Benedikt Wefers, Johannes Gnörich, Georg Werner, Christian Haass, Karin Wind
المصدر: EMBO reports 21(10), 19 (2020). doi:10.15252/embr.202050241
EMBO Reports
EMBO Rep. 21:e50241 (2020)مصطلحات موضوعية: Pathology, medicine.medical_specialty, TDP-43, Nerve Tissue Proteins, Biology, Biochemistry, Article, 03 medical and health sciences, Mice, genetics [Progranulins], 0302 clinical medicine, Progranulins, Downregulation and upregulation, Ftd, Neurodegeneration, Progranulin, Tdp-43, Tmem106b, ddc:570, Gene expression, mental disorders, Genetics, medicine, progranulin, Animals, Humans, Molecular Biology of Disease, Molecular Biology, Gene knockout, Loss function, 030304 developmental biology, Mice, Knockout, 0303 health sciences, genetics [Intercellular Signaling Peptides and Proteins], neurodegeneration, Membrane Proteins, FTD, Frontotemporal lobar degeneration, Articles, medicine.disease, TDP‐43, genetics [Membrane Proteins], Proteostasis, TMEM106B, Intercellular Signaling Peptides and Proteins, genetics [Frontotemporal Lobar Degeneration], Frontotemporal Lobar Degeneration, Haploinsufficiency, Lysosomes, 030217 neurology & neurosurgery, Neuroscience
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df22da9d1bf1034c18000cc5bb17bb30
https://pub.dzne.de/record/154374 -
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المؤلفون: Javier Rueda-Carrasco, Paula Garcia-Esparcia, Inmaculada Crespo, José A. Esteban, Juan Fortea, Pilar Esteve, José M. Valpuesta, Alberto Lleó, Guadalupe Pereyra, Estrella Gómez-Tortosa, María Jesús Martín-Bermejo, Isidro Ferrer, Mercedes Domínguez, Jonathan E. Draffin, Paola Bovolenta, Inmaculada Moreno, Daniel Alcolea, Alberto Rábano, Ester Aso, África Sandonís, Michael T. Heneka, María Inés Mateo
المساهمون: Ministerio de Economía y Competitividad (España), Fundación Tatiana Pérez de Guzmán el Bueno, Fundación Ramón Areces
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature reviews / Neuroscience 22(8), 1258-1268 (2019). doi:10.1038/s41593-019-0432-1
NATURE NEUROSCIENCE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauمصطلحات موضوعية: 0301 basic medicine, metabolism [Intercellular Signaling Peptides and Proteins], genetics [Plaque, Amyloid], ADAM10, Long-Term Potentiation, genetics [Amyloid Precursor Protein Secretases], Plaque, Amyloid, genetics [Alzheimer Disease], APP protein, human, Pathogenesis, antagonists & inhibitors [Membrane Proteins], genetics [ADAM10 Protein], pathology [Alzheimer Disease], Mice, Amyloid beta-Protein Precursor, ADAM10 Protein, 0302 clinical medicine, Adam10 protein, mouse, drug therapy [Plaque, Amyloid], therapeutic use [Antibodies, Blocking], Metalloproteinase, General Neuroscience, genetics [Intercellular Signaling Peptides and Proteins], Long-term potentiation, Cell biology, genetics [Membrane Proteins], genetics [Amyloid beta-Protein Precursor], Intercellular Signaling Peptides and Proteins, metabolism [Alzheimer Disease], Amyloid, Transgene, Down-Regulation, Mice, Transgenic, Biology, biosynthesis [Membrane Proteins], 03 medical and health sciences, genetics [Brain Chemistry], Downregulation and upregulation, Secreted frizzled-related protein 1, Alzheimer Disease, ddc:570, mental disorders, Neurites, Animals, Humans, Sfrp1 protein, mouse, pathology [Plaque, Amyloid], Antibodies, Blocking, biosynthesis [ADAM10 Protein], Brain Chemistry, Membrane Proteins, 030104 developmental biology, biosynthesis [Amyloid Precursor Protein Secretases], Amyloid Precursor Protein Secretases, Neuroscience, 030217 neurology & neurosurgery, metabolism [Membrane Proteins], pathology [Neurites]
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المؤلفون: Martin Balastik, Eran Perlson, Romana Weissova, Roy Maimon, Thomas Misgeld, Tomas Petrasek, Marie Kleisnerova, Radislav Sedlacek, Jakub Ziak, Barbora Pukajova, Monika S. Brill, Mengzhe Wang, Xunlei Zhou, Ales Stuchlik, Gonzalo Alvarez-Bolado, Petr Kasparek, Kateřina Jeřábková, Martina Janikova
المصدر: EMBO reports 21(3), e48512 (2020). doi:10.15252/embr.201948512
EMBO Repمصطلحات موضوعية: Dendritic spine, Autism Spectrum Disorder, Dendritic Spines, Nerve Tissue Proteins, Semaphorins, Biology, Biochemistry, Synapse, Mice, 03 medical and health sciences, 0302 clinical medicine, Semaphorin, ddc:570, Genetics, medicine, Biological neural network, Animals, Axon, Molecular Biology, genetics [Nerve Tissue Proteins], 030304 developmental biology, Mice, Knockout, Neurons, 0303 health sciences, physiology [Membrane Proteins], Neuronal Plasticity, genetics [Intercellular Signaling Peptides and Proteins], Membrane Proteins, SEMA3A, Articles, medicine.anatomical_structure, nervous system, Intercellular Signaling Peptides and Proteins, physiology [Nerve Tissue Proteins], Axon guidance, Neuron, Collapsin response mediator protein family, Neuroscience, 030217 neurology & neurosurgery, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56216d97953369ea91f656705aad9e2
https://doi.org/10.1101/719617 -
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المؤلفون: Julia K, Götzl, Alessio-Vittorio, Colombo, Katrin, Fellerer, Anika, Reifschneider, Georg, Werner, Sabina, Tahirovic, Christian, Haass, Anja, Capell
المصدر: Molecular neurodegeneration 13(1), 48 (2018). doi:10.1186/s13024-018-0281-5
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-16 (2018)
Molecular Neurodegenerationمصطلحات موضوعية: Progranulin, lcsh:Geriatrics, metabolism [Microglia], Frontotemporal lobar degeneration, lcsh:RC346-429, Cathepsin, metabolism [Lysosomes], genetics [Progranulins], Progranulins, Neuronal Ceroid-Lipofuscinoses, ddc:570, Animals, Neurodegeneration, genetics [Neuronal Ceroid-Lipofuscinoses], lcsh:Neurology. Diseases of the nervous system, Neurons, Mice, Knockout, lysosomal proteins, metabolism [Neuronal Ceroid-Lipofuscinoses], genetics [Intercellular Signaling Peptides and Proteins], Brain, Proteins, metabolism [Proteins], Lysosome, metabolism [Frontotemporal Lobar Degeneration], lcsh:RC952-954.6, Disease Models, Animal, metabolism [Brain], metabolism [Neurons], Intercellular Signaling Peptides and Proteins, Microglia, genetics [Frontotemporal Lobar Degeneration], Lysosomes, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::efc2fc4bd082bd4487491cd046237809
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المؤلفون: Christian Haass, Anja Capell, Katrin Fellerer
المصدر: The journal of biological chemistry 289(37), 25879-25889 (2014). doi:10.1074/jbc.M114.560128
مصطلحات موضوعية: Untranslated region, metabolism [Intercellular Signaling Peptides and Proteins], Five prime untranslated region, Biochemistry, genetics [Peptide Chain Termination, Translational], Progranulins, Neurobiology, Protein Isoforms, 3' Untranslated Regions, Genetics, genetics [Intercellular Signaling Peptides and Proteins], Translation (biology), respiratory system, DNA-Binding Proteins, genetics [Amyotrophic Lateral Sclerosis], ddc:540, genetics [3' Untranslated Regions], Intercellular Signaling Peptides and Proteins, genetics [Frontotemporal Lobar Degeneration], metabolism [DNA-Binding Proteins], genetics [Protein Isoforms], Translational efficiency, genetics [5' Untranslated Regions], genetics [DNA-Binding Proteins], Biology, behavioral disciplines and activities, genetics [RNA, Messenger], Open Reading Frames, mental disorders, Upstream open reading frame, Humans, RNA, Messenger, pathology [Amyotrophic Lateral Sclerosis], Molecular Biology, Psychological repression, pathology [Frontotemporal Lobar Degeneration], Three prime untranslated region, metabolism [Amyotrophic Lateral Sclerosis], Amyotrophic Lateral Sclerosis, Cell Biology, Peptide Chain Termination, Translational, metabolism [Frontotemporal Lobar Degeneration], nervous system diseases, Open reading frame, HEK293 Cells, nervous system, Gene Expression Regulation, Mutation, GRN protein, human, Frontotemporal Lobar Degeneration, 5' Untranslated Regions
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793e1c84c38ddcab7db0f1a3c2a6f835
https://doi.org/10.1074/jbc.m114.560128 -
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المؤلفون: Synofzik, M., Otto, M., Ludolph, A., Weishaupt, J. H.
المصدر: Der Nervenarzt 88(7), 728-735 (2017). doi:10.1007/s00115-017-0349-4
مصطلحات موضوعية: methods [High-Throughput Nucleotide Sequencing], therapy [Frontotemporal Dementia], DNA Mutational Analysis, genetics [DNA-Binding Proteins], MAPT protein, human, tau Proteins, Comorbidity, genetics [Gene Expression Regulation], Progranulins, Superoxide Dismutase-1, Humans, therapy [Amyotrophic Lateral Sclerosis], ddc:610, Molecular Targeted Therapy, genetics [C9orf72 Protein], genetics [Frontotemporal Dementia], Genetic Association Studies, C9orf72 Protein, genetics [Intercellular Signaling Peptides and Proteins], TDP-43 protein, human, Amyotrophic Lateral Sclerosis, SOD1 protein, human, High-Throughput Nucleotide Sequencing, FUS protein, human, genetics [Superoxide Dismutase-1], DNA-Binding Proteins, genetics [Amyotrophic Lateral Sclerosis], genetics [tau Proteins], Phenotype, Gene Expression Regulation, Frontotemporal Dementia, GRN protein, human, Intercellular Signaling Peptides and Proteins, RNA-Binding Protein FUS, C9orf72 protein, human, genetics [RNA-Binding Protein FUS]
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المؤلفون: Davidson, Yvonne S, Flood, Louis, Pickering-Brown, Stuart, Haass, Christian, Lashley, Tammaryn, Mann, David M A, Robinson, Andrew C, Nihei, Yoshihiro, Mori, Kohji, Rollinson, Sara, Richardson, Anna, Benson, Bridget C, Jones, Matthew, Snowden, Julie S
المصدر: Acta Neuropathologica Communications
Davidson, Y S, Flood, L, Robinson, A C, Nihei, Y, Mori, K, Rollinson, S, Richardson, A, Benson, B C, Jones, M, Snowden, J S, Pickering-Brown, S, Haass, C, Lashley, T & Mann, D M A 2017, ' Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene ', Acta Neuropathologica Communications, vol. 5, no. 1, pp. 31 . https://doi.org/10.1186/s40478-017-0437-5
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-10 (2017)
Acta Neuropathologica Communications 5(1), 31 (2017). doi:10.1186/s40478-017-0437-5مصطلحات موضوعية: Male, metabolism [Inclusion Bodies], Heterogeneous Nuclear Ribonucleoprotein A1, metabolism [Hippocampus], Dipeptide repeat proteins, Hippocampus, lcsh:RC346-429, pathology [Inclusion Bodies], Progranulins, C9orf72 gene, Cerebellum, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, pathology [Cerebellum], hnRNP A2, Aged, 80 and over, Inclusion Bodies, DNA Repeat Expansion, genetics [Intercellular Signaling Peptides and Proteins], TDP-43 protein, human, metabolism [Cerebellum], Middle Aged, Temporal Lobe, metabolism [Motor Neuron Disease], DNA-Binding Proteins, Intercellular Signaling Peptides and Proteins, genetics [Motor Neuron Disease], Female, genetics [Frontotemporal Lobar Degeneration], metabolism [DNA-Binding Proteins], pathology [Motor Neuron Disease], metabolism [Heterogeneous Nuclear Ribonucleoprotein A1], MAPT protein, human, tau Proteins, Heterogeneous ribonuclear proteins, metabolism [Temporal Lobe], mental disorders, Humans, ddc:610, Motor neuron disease, genetics [C9orf72 Protein], lcsh:Neurology. Diseases of the nervous system, Aged, C9orf72 Protein, pathology [Frontotemporal Lobar Degeneration], Research, pathology [Temporal Lobe], HNRNPA3 protein, human, metabolism [Frontotemporal Lobar Degeneration], genetics [tau Proteins], pathology [Hippocampus], metabolism [Heterogeneous-Nuclear Ribonucleoprotein Group A-B], GRN protein, human, C9orf72 protein, human, Frontotemporal Lobar Degeneration
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المؤلفون: Wilke, Carlo, Gillardon, Frank, Deuschle, Christian, Hobert, Markus A., Jansen, Iris E., Metzger, Florian G., Heutink, Peter, Gasser, Thomas, Maetzler, Walter, Blauwendraat, Cornelis, Synofzik, Matthis
المساهمون: Human genetics, Amsterdam Neuroscience - Neurodegeneration
المصدر: Neurodegenerative Diseases, 17(2-3), 83-88. S. Karger AG
Neurodegenerative diseases 17(2-3), 83-88 (2016). doi:10.1159/000448896
Wilke, C, Gillardon, F, Deuschle, C, Hobert, M A, Jansen, I E, Metzger, F G, Heutink, P, Gasser, T, Maetzler, W, Blauwendraat, C & Synofzik, M 2017, ' Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia ', Neurodegenerative Diseases, vol. 17, no. 2-3, pp. 83-88 . https://doi.org/10.1159/000448896مصطلحات موضوعية: blood [Frontotemporal Dementia], Male, Mutation, Missense, MAPT protein, human, tau Proteins, cerebrospinal fluid [Frontotemporal Dementia], Polymorphism, Single Nucleotide, cerebrospinal fluid [Intercellular Signaling Peptides and Proteins], Progranulins, mental disorders, Humans, ddc:610, Phosphorylation, genetics [Frontotemporal Dementia], Aged, genetics [Intercellular Signaling Peptides and Proteins], blood [Intercellular Signaling Peptides and Proteins], Middle Aged, metabolism [tau Proteins], cerebrospinal fluid [tau Proteins], Frontotemporal Dementia, Mutation, GRN protein, human, Intercellular Signaling Peptides and Proteins, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ba7f66d06568870d5a3f42ccd82c39a8
https://research.vumc.nl/en/publications/9ed95381-38b5-4de0-b0c0-bcd7f109eb31 -
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المؤلفون: George Dedoussis, Rui Li, Elaine G.Y. Chew, George Papanikolaou, Tim D. Spector, David A. Hinds, Susanne Moebus, Asif Javed, Dale R. Nyholt, Axel M. Hillmer, Gérard Waeber, Zoltán Kutalik, Nicholas G. Martin, Michael P. Philpott, Lara M. Hochfeld, Tessel E. Galesloot, Xiu Ting Heng, Rico Rueedi, Thomas Anhalt, Markus M. Nöthen, Dmitriy Drichel, Michael Nothnagel, Stavroula Kanoni, Ralf Paus, Lambertus A. Kiemeney, Christine Herold, Stefanie Heilmann-Heimbach, J. Brent Richards, Tim Becker, Panos Deloukas, Peter Vollenweider, Julian Hecker, Sonali Pechlivanis, Ricardo C.H. del Rosario, Heide Loehlein Fier, Shyam Prabhakar
المصدر: Heilmann-Heimbach, S, Herold, C, Hochfeld, L M, Hillmer, A M, Nyholt, D R, Hecker, J, Javed, A, Chew, E G Y, Pechlivanis, S, Drichel, D, Heng, X T, Del Rosario, R C H, Fier, H L, Paus, R, Rueedi, R, Galesloot, T E, Moebus, S, Anhalt, T, Prabhakar, S, Li, R, Kanoni, S, Papanikolaou, G, Kutalik, Z, Deloukas, P, Philpott, M P, Waeber, G, Spector, T D, Vollenweider, P, Kiemeney, L A L M, Dedoussis, G, Richards, J B, Nothnagel, M, Martin, N G, Becker, T, Hinds, D A & Nöthen, M M 2017, ' Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness ', Nature Communications, vol. 8, 14694 . https://doi.org/10.1038/ncomms14694
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Nature Communications 8(1), 14694 (2017). doi:10.1038/ncomms14694
Nature Communications
Nature Communications, 8, 14694
Nature Communications, 8, pp. 14694
Nature communications, vol. 8, pp. 14694مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, genetics [Trans-Activators], SRD5A2 protein, human, Medizin, General Physics and Astronomy, genetics [3-Oxo-5-alpha-Steroid 4-Dehydrogenase], Genome-wide association study, Bioinformatics, 0302 clinical medicine, genetics [Interferon Regulatory Factors], Genotype, Melatonin, Genetics, Multidisciplinary, Adipogenesis, EBF1 protein, human, integumentary system, genetics [Intercellular Signaling Peptides and Proteins], Phenotype, FGF5 protein, human, genetics [Membrane Proteins], 030220 oncology & carcinogenesis, Meta-analysis, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Interferon Regulatory Factors, Intercellular Signaling Peptides and Proteins, Male-pattern baldness, ddc:500, Signal Transduction, DKK2 protein, human, Fibroblast Growth Factor 5, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics, Adipogenesis/genetics, Alopecia/genetics, Case-Control Studies, Fibroblast Growth Factor 5/genetics, Genetic Association Studies, Genome-Wide Association Study, Humans, Intercellular Signaling Peptides and Proteins/genetics, Interferon Regulatory Factors/genetics, Membrane Proteins/genetics, Signal Transduction/genetics, Trans-Activators/genetics, Science, Genomics, Biology, genetics [Signal Transduction], General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, interferon regulatory factor-4, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, medicine, genetics [Adipogenesis], genetics [Alopecia], Case-control study, Membrane Proteins, Alopecia, General Chemistry, medicine.disease, genetics [Fibroblast Growth Factor 5], 030104 developmental biology, Trans-Activators
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