-
1Academic Journal
المؤلفون: Miedema, Suzanne S M, Mol, Merel O, Melhem, Shamiram, Li, Ka Wan, Holstege, Henne, Rizzu, Patrizia, van Kesteren, Ronald E, van Swieten, John C, Heutink, Peter, Smit, August B, Koopmans, Frank T W, Hondius, David C, van Nierop, Pim, Menden, Kevin, de Veij Mestdagh, Christina F, van Rooij, Jeroen, Ganz, Andrea B, Paliukhovich, Iryna
المصدر: Acta Neuropathologica Communications 10, 100 (2022). doi:10.1186/s40478-022-01387-8
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Endothelial Cells: metabolism, Frontotemporal Dementia: genetics, Frontotemporal Dementia: pathology, Humans, Intercellular Signaling Peptides and Proteins: genetics, Mutation: genetics, Pick Disease of the Brain, Progranulins: genetics, Proteomics, tau Proteins: genetics, tau Proteins: metabolism, Cell type enrichment, Frontotemporal dementia, GRN, Human brain proteomics, MAPT, GRN protein, human, Intercellular Signaling Peptides and Proteins, MAPT protein, Progranulins, tau Proteins
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/2051-5960; info:eu-repo/semantics/altIdentifier/pmid/pmid:35799292; https://pub.dzne.de/record/164917; https://pub.dzne.de/search?p=id:%22DZNE-2022-01328%22
-
2Academic Journal
المؤلفون: Feis, R.A. (Rogier A.), Bouts, M.J.R.J. (Mark J.R.J.), Panman, J.L. (Jessica), Jiskoot, L.C. (Lize), Dopper, E.G.P. (Elise), Schouten, T.M. (Tijn M.), de Vos, F. (Frank), van der Grond, J. (Jeroen), Swieten, J.C. (John) van, Rombouts, S.A.R.B. (Serge)
المصدر: NeuroImage: Clinical vol. 20, pp. 188-196
مصطلحات موضوعية: C9orf72, human, classification, Diffusion Tensor Imaging, Frontotemporal dementia, GRN protein, machine learning, MAPT protein, Multimodal MRI, Resting-state functional MRI
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/109497; urn:hdl:1765/109497
-
3
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
وصف الملف: application/pdf
-
4Academic Journal
المؤلفون: Moreno, Fermín, Indakoetxea, Begoña, Barandiaran, Myriam, Caballero, María Cristina, Gorostidi, Ana, Calafell i Majó, Francesc, Gabilondo, Alazne, Tainta, Mikel, Zulaica, Miren, Martí Massó, José F., López de Munain, Adolfo, Sánchez-Juan, Pascual, Lee, Suzee E.
مصطلحات موضوعية: DNA-Binding Proteins, Demography, Family, Frontotemporal Dementia/pathology, Immunohistochemistry, Intercellular Signaling Peptides and Proteins/genetics, Mutation/genetics, Mutation Rate, Neuropsychological Tests, Phenotype, tau Proteins/genetics, tau Proteins/metabolism, GRN protein, human, MAPT protein, TDP-43 protein
وصف الملف: application/pdf
Relation: PLoS One. 2017 Jun 8;12(6):e0178093; http://hdl.handle.net/10230/33153; http://dx.doi.org/10.1371/journal.pone.0178093
-
5
المؤلفون: Anika Reifschneider, Sophie Robinson, Bettina van Lengerich, Johannes Gnörich, Todd Logan, Steffanie Heindl, Miriam A Vogt, Endy Weidinger, Lina Riedl, Karin Wind, Artem Zatcepin, Ida Pesämaa, Sophie Haberl, Brigitte Nuscher, Gernot Kleinberger, Julien Klimmt, Julia K Götzl, Arthur Liesz, Katharina Bürger, Matthias Brendel, Johannes Levin, Janine Diehl‐Schmid, Jung Suh, Gilbert Di Paolo, Joseph W Lewcock, Kathryn M Monroe, Dominik Paquet, Anja Capell, Christian Haass
المصدر: The EMBO journal 41(4), e109108 (2022). doi:10.15252/embj.2021109108
مصطلحات موضوعية: Male, pharmacology [Antibodies], microglia, physiopathology [Brain], SYK protein, human, drug effects [Microglia], Monocytes, metabolism [Lysosomes], immunology [Antibodies], Progranulins, genetics [Membrane Glycoproteins], genetics [Receptors, Immunologic], Receptors, Immunologic, Mice, Knockout, Membrane Glycoproteins, General Neuroscience, neurodegeneration, Brain, metabolism [Receptors, Immunologic], metabolism [Syk Kinase], drug effects [Monocytes], Grn protein, mouse, frontotemporal lobar degeneration, Female, Microglia, immunology [Membrane Glycoproteins], deficiency [Progranulins], General Biochemistry, Genetics and Molecular Biology, Antibodies, lysosomes, Trem2 protein, mouse, ddc:570, progranulin, Animals, Humans, Syk Kinase, Molecular Biology, diagnostic imaging [Brain], immunology [Receptors, Immunologic], General Immunology and Microbiology, TREM2 protein, human, pathology [Frontotemporal Lobar Degeneration], metabolism [Frontotemporal Lobar Degeneration], physiology [Microglia], Mice, Inbred C57BL, Disease Models, Animal, Frontotemporal Lobar Degeneration, Lysosomes, metabolism [Membrane Glycoproteins], pathology [Lysosomes], metabolism [Monocytes]
-
6Academic Journal
المؤلفون: Guven, Gamze, Lohmann, Ebba, Erginel-Unaltuna, Nihan, Just, Walter, Hardy, John, Singleton, Andrew, Guerreiro, Rita, Bras, Jose, Gibbs, J Raphael, Gurvit, Hakan, Bilgic, Basar, Hanagasi, Hasmet, Rizzu, Patrizia, Heutink, Peter, Emre, Murat
المصدر: PLOS ONE 11(9), e0162592 (2016). doi:10.1371/journal.pone.0162592
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Blotting, Southern, C9orf72 Protein, Cohort Studies, Exome, Female, Frontotemporal Dementia: genetics, Humans, Intercellular Signaling Peptides and Proteins: genetics, Male, Mutation, Pedigree, Polymerase Chain Reaction, Progranulins, Proteins: genetics, Turkey, tau Proteins: genetics, human, GRN protein, Intercellular Signaling Peptides and Proteins, MAPT protein, Proteins, tau Proteins
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:27632209; info:eu-repo/semantics/altIdentifier/issn/1932-6203; https://pub.dzne.de/record/138778; https://pub.dzne.de/search?p=id:%22DZNE-2020-05100%22
-
7
المؤلفون: Convery, Rhian S, Bocchetta, Martina, Masellis, Mario, Afonso, S., Taipa, R., Caroppo, P., Di Fede, G., Giaccone, G., Prioni, S., Redaelli, V., Rossi, G., Tiraboschi, P., Duro, D., Tartaglia, Maria Carmela, Almeida, M. R., Branco, M. C., Leitão, M. J., Tabuas-Pereira, M., Santiago, B., Gauthier, S., Rosa-Neto, P., Veldsman, M., Flanagan, T., Prix, C., Graff, Caroline, Hoegen, T., Wlasich, E., Loosli, S., Schonecker, S., Semler, E., Anderl-Straub, S., Galimberti, Daniela, Rowe, James B, Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonca, Alexandre, Tagliavini, Fabrizio, Greaves, Caroline V, Santana, Isabel, Ducharme, Simon, Butler, Christopher, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Otto, Markus, Warren, Jason D, Rohrer, Jonathan D, Initiative, Genetic FTD, Moore, Katrina M, Rossor, M. N., Fox, N. C., Woollacott, I. O. C., Shafei, R., Heller, C., Peakman, G., Swift, I., Todd, E., Guerreiro, R., Bras, J., Cash, David M, Thomas, D. L., Nicholas, J., Mead, S., Jiskoot, L., Meeter, L., Panman, J., Papma, J., van Minkelen, R., Pijnenburg, Y., Barandiara, M., Van Swieten, John, Indakoetxea, B., Gabilondo, A., Tainta, M., de Arriba, M., Gorostidi, A., Zulaica, M., Villanua, J., Diaz, Z., Borrego-Ecija, S., Olives, J., Moreno, Fermin, Lladó, A., Balasa, M., Antonell, A., Bargallo, N., Premi, E., Cosseddu, M., Gazzina, S., Padovani, A., Gasparotti, R., Archetti, S., Sánchez-Valle, Raquel, Black, S., Mitchell, S., Rogaeva, E., Freedman, M., Keren, R., Tang-Wai, D., Öijerstedt, L., Andersson, C., Jelic, V., Thonberg, H., Borroni, Barbara, Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Cope, T., Timberlake, C., Rittman, T., Shoesmith, C., Bartha, R., Rademakers, R., Laforce, Robert, Wilke, C., Karnarth, H-O, Bender, B., Bruffaerts, R., Vandamme, P., Vandenbulcke, M., Ferreira, C. B., Miltenberger, G., Maruta, C., Verdelho, A.
المساهمون: Convery, Rhian S [0000-0002-9477-1812], Bocchetta, Martina [0000-0003-1814-5024], Greaves, Caroline V [0000-0002-6446-1960], Moore, Katrina M [0000-0002-4458-8390], Van Swieten, John [0000-0001-6278-6844], Borroni, Barbara [0000-0001-9340-9814], Rowe, James B [0000-0001-7216-8679], Finger, Elizabeth [0000-0003-4461-7427], Otto, Markus [0000-0002-6647-5944], Rohrer, Jonathan D [0000-0002-6155-8417], Apollo - University of Cambridge Repository, Neurology, Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Neurology Neurosurgery and Psychiatry, 91(12), 1325-1328. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry 91(12), 1325-1328 (2020). doi:10.1136/jnnp-2020-323279مصطلحات موضوعية: Male, diagnostic imaging [Corpus Striatum], Medizin, Somatosensory system, physiopathology [Frontotemporal Dementia], frontotemporal dementia, Cohort Studies, genetics [Progranulins], 0302 clinical medicine, Progranulins, Thalamus, C9orf72, Cerebellum, diagnostic imaging [Cerebral Cortex], pathology [Cerebellum], Medicine, pain, genetics [Frontotemporal Dementia], Cerebral Cortex, 0303 health sciences, DNA Repeat Expansion, Pain Perception, Middle Aged, Magnetic Resonance Imaging, Temporal Lobe, Psychiatry and Mental health, Cohort, diagnostic imaging [Prefrontal Cortex], Female, Frontotemporal dementia, genetics [Atrophy], Adult, medicine.medical_specialty, pathology [Corpus Striatum], Pain, Prefrontal Cortex, genetics [Perceptual Disorders], MAPT protein, human, tau Proteins, diagnostic imaging [Frontotemporal Dementia], Temporal lobe, Perceptual Disorders, 03 medical and health sciences, Atrophy, pathology [Thalamus], Internal medicine, Humans, ddc:610, genetics [C9orf72 Protein], 030304 developmental biology, diagnostic imaging [Perceptual Disorders], Aged, diagnostic imaging [Thalamus], C9orf72 Protein, business.industry, pathology [Temporal Lobe], diagnostic imaging [Atrophy], physiopathology [Atrophy], medicine.disease, diagnostic imaging [Cerebellum], pathology [Prefrontal Cortex], Corpus Striatum, physiopathology [Perceptual Disorders], genetics [tau Proteins], diagnostic imaging [Temporal Lobe], Logistic Models, Asymptomatic Diseases, Mutation, GRN protein, human, Surgery, Orbitofrontal cortex, pathology [Cerebral Cortex], Neurology (clinical), C9orf72 protein, human, business, 030217 neurology & neurosurgery
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf
-
8Academic Journal
المؤلفون: Feis, R.A., Grond, J. van der, Bouts, M.J.R.J., Panman, J.L., Poos, J.M., Schouten, T.M., Vos, F. de, Jiskoot, L.C., Dopper, E.G.P., Buchem, M.A. van, Swieten, J.C. van, Rombouts, S.A.R.B.
المصدر: Brain Communications
مصطلحات موضوعية: frontotemporal dementia, MAPT protein, human, GRN protein, multimodal MRI, classification
وصف الملف: application/pdf
Relation: https://academic.oup.com/braincomms/article/2/2/fcaa079/5856100; lumc-id: 115439312; https://hdl.handle.net/1887/3185289
-
9
المؤلفون: Mark J. R. J. Bouts, Jackie M. Poos, Elise G.P. Dopper, Rogier A. Feis, Jeroen van der Grond, Tijn M. Schouten, Jessica L. Panman, Lize C. Jiskoot, Frank de Vos, Serge A.R.B. Rombouts, John C. van Swieten, Mark A. van Buchem
المصدر: Brain Communications, 2(2). OXFORD UNIV PRESS
Brain Communicationsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, GRN protein, Audiology, Logistic regression, frontotemporal dementia, multimodal MRI, 03 medical and health sciences, 0302 clinical medicine, Fractional anisotropy, medicine, human, medicine.diagnostic_test, Receiver operating characteristic, business.industry, AcademicSubjects/SCI01870, General Engineering, Neuropsychology, Magnetic resonance imaging, Cognition, medicine.disease, MAPT protein, 030104 developmental biology, classification, Mutation (genetic algorithm), Original Article, AcademicSubjects/MED00310, business, 030217 neurology & neurosurgery, Frontotemporal dementia
وصف الملف: application/pdf
-
10
المؤلفون: Elise G.P. Dopper, Lize C. Jiskoot, John C. van Swieten, Jeroen van der Grond, Tijn M. Schouten, Serge A.R.B. Rombouts, Mark J. R. J. Bouts, Frank de Vos, Rogier A. Feis, Jessica L. Panman
المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration
المصدر: Journal of Neurology, Neurosurgery and Psychiatry, 90(11), 1207-1214. BMJ Publishing Group Ltd
Journal of Neurology Neurosurgery and Psychiatry, 90(11), 1207-1214. BMJ Publishing Group
Journal of Neurology, Neurosurgery and Psychiatry, 90(11), 1207-1214. BMJ Publishing Group
Feis, R A, Bouts, M J R J, de Vos, F, Schouten, T M, Panman, J L, Jiskoot, L C, Dopper, E G P, van der Grond, J, van Swieten, J C & Rombouts, S A R B 2019, ' A multimodal MRI-based classification signature emerges just prior to symptom onset in frontotemporal dementia mutation carriers ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 90, no. 11, pp. 1207-1214 . https://doi.org/10.1136/jnnp-2019-320774مصطلحات موضوعية: Male, Longitudinal study, Time Factors, Audiology, Neuropsychological Tests, grn protein, Multimodal Imaging, Machine Learning, 0302 clinical medicine, Progranulins, C9orf72, Longitudinal Studies, resting-state functional mri, 0303 health sciences, Middle Aged, diffusion tensor imaging, Psychiatry and Mental health, classification, multimodal mri, Frontotemporal Dementia, Mutation (genetic algorithm), Female, c9orf72,classification,diffusion tensor imaging,frontotemporal dementia,grn protein,human,machine learning,mapt protein,multimodal mri,resting-state functional mri, Frontotemporal dementia, Adult, medicine.medical_specialty, Heterozygote, Models, Neurological, Prodromal Symptoms, Neuroimaging, tau Proteins, 03 medical and health sciences, mental disorders, medicine, Humans, human, Symptom onset, 030304 developmental biology, Aged, C9orf72 Protein, business.industry, medicine.disease, c9orf72, Early Diagnosis, Case-Control Studies, Mutation, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, mapt protein, Diffusion MRI
-
11
المؤلفون: Rachelle Shafei, Albert Lladó, Benjamin Bender, Luisa Benussi, Elisabeth Wlasich, Martha S. Foiani, Isabel Santana, Christen Shoesmith, Ione O.C. Woollacott, Nick C. Fox, David L. Thomas, Jonathan D. Rohrer, Pietro Tiraboschi, Mario Masellis, Sergi Borrego-Écija, Giorgio G. Fumagalli, Ron Keren, Sandro Sorbi, Rick van Minkelen, Vesna Jelic, Ekaterina Rogaeva, Mollie Neason, Enrico Premi, Timothy Rittman, Lieke H.H. Meeter, Giacomina Rossi, Veronica Redaelli, Roberta Ghidoni, Begoña Indakoetxea, Johannes Levin, Håkan Thonberg, Rhian S Convery, Henrik Zetterberg, Gemma Lombardi, Giuseppe Di Fede, Chiara Fenoglio, Jose Bras, Daniela Galimberti, Simon Mead, Miren Zulaica, David M. Cash, Gabriel Miltenberger, Markus Otto, Simon Ducharme, Myriam Barandiaran, Katrina M. Moore, Alessandro Padovani, Thomas E. Cope, Elizabeth Finger, Maria Carmela Tartaglia, Martin N. Rossor, M. Jorge Cardoso, Sara Mitchell, Rik Vandenberghe, Pedro Rosa-Neto, John C. van Swieten, Sarah Anderl-Straub, Maria Rosário Almeida, Zigor Diaz, Robart Bartha, Maria de Arriba, Caroline V. Greaves, Philip Vandamme, Giorgio Giaccone, Adrian Danek, Miguel Tábuas-Pereira, Carolina Maruta, Roberto Gasparotti, Jennifer M. Nicholas, Martina Bocchetta, Elisa Semler, Valentina Bessi, C. Ferreira, Robert Laforce, Sandra V. Loosli, Ana Verdelho, Paola Caroppo, Jaume Olives, Giuliano Binetti, Carolin Heller, Jorge Villanua, Stefano Gazzina, Amanda Heslegrave, Alazne Gabilondo, Sandra E. Black, Y.A.L. Pijnenburg, Mikel Tainta, Carolyn Timberlake, Sónia Afonso, Matthis Synofzik, Janne M. Papma, Sebastien Ourselin, Núria Bargalló, Barbara Borroni, Ricardo Taipa, Hans-Otto Karnarth, Camilla Ferrari, David F. Tang-Wai, Diana Duro, Catharina Prix, Serge Gauthier, Sara Prioni, Carlo Wilke, Michele Veldsman, Alexandre de Mendonça, Andrea Arighi, Christopher C Butler, Raquel Sánchez-Valle, Toby Flanagan, Carole H. Sudre, Jason D. Warren, Rita Guerreiro, Linn Öijerstedt, Beatriz Santiago, Rosa Rademakers, Miguel Castelo-Branco, Fabrizio Tagliavini, Maria João Leitão, Anna Antonell, Mathieu Vandenbulcke, Rose Bruffaerts, Jessica L. Panman, Alexander Gerhard, Tobias Hoegen, Ana Gorostidi, Silvana Archetti, James B. Rowe, Michela Pievani, Elio Scarpini, Giovanni B. Frisoni, Benedetta Nacmias, Sonja Schönecker, Maura Cosseddu, Christin Andersson, Caroline Graff, Morris Freedman, Fermin Moreno, Mircea Balasa, Lize C. Jiskoot
المساهمون: Sudre, Carole H [0000-0001-5753-428X], Apollo - University of Cambridge Repository, Rowe, James [0000-0001-7216-8679], Neurology
المصدر: NeuroImage : Clinical
NeuroImage: Clinical, Vol. 24 (2019) P. 102077
NeuroImage: Clinical, 24:102077. Elsevier
NeuroImage: Clinical 24, 102077-(2019). doi:10.1016/j.nicl.2019.102077
NeuroImage: Clinical, Vol 24, Iss, Pp-(2019)مصطلحات موضوعية: Oncology, Male, SEGMENTATION, PROTEIN, physiopathology [Frontotemporal Dementia], DISEASE, 0302 clinical medicine, White matter hyperintensities, blood [Glial Fibrillary Acidic Protein], Longitudinal Studies, education.field_of_study, Regular Article, Neurology, Frontotemporal Dementia, Disease Progression, GRN, medicine.medical_specialty, lcsh:Computer applications to medicine. Medical informatics, MRI, Magnetic Resonance Imaging, White matter, 03 medical and health sciences, AGE, Humans, neurofilament protein L, education, Aged, CSF, Cerebrospinal fluid, Science & Technology, Trail Making Test, Frontotemporal dementia, Dementia, Progranulin, medicine.disease, POLYMORPHISM, Case-Control Studies, Asymptomatic Diseases, Mutation, Neurosciences & Neurology, Neurology (clinical), GENFI, 030217 neurology & neurosurgery, Executive dysfunction, blood [Frontotemporal Dementia], GFAP, Glial Fibrillary Acidic Protein, blood [Neurofilament Proteins], lcsh:RC346-429, genetics [Progranulins], Executive Function, Progranulins, pathology [Gray Matter], Neurofilament Proteins, BRAIN ATROPHY, GM, Grey Matter, Gray Matter, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], 05 social sciences, Organ Size, Middle Aged, Magnetic Resonance Imaging, White Matter, genetics [Membrane Proteins], medicine.anatomical_structure, FTD, Frontotemporal dementia, GENFI, GENetic Frontotemporal dementia Initiative, lcsh:R858-859.7, Female, Life Sciences & Biomedicine, Adult, Heterozygote, Cognitive Neuroscience, Population, Prodromal Symptoms, Neuroimaging, PHENOTYPES, Nerve Tissue Proteins, MUTATION CARRIERS, WM, White Matter, Grey matter, diagnostic imaging [Frontotemporal Dementia], 050105 experimental psychology, diagnostic imaging [White Matter], Atrophy, TMEM106B protein, human, Internal medicine, mental disorders, Glial Fibrillary Acidic Protein, medicine, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, ddc:610, lcsh:Neurology. Diseases of the nervous system, business.industry, GFAP protein, human, WMH, White Matter Hyperintensity, diagnostic imaging [Gray Matter], Membrane Proteins, Hyperintensity, GRN, Progranulin, TMEM106B, ddc:618.97, GRN protein, human, business
وصف الملف: application/pdf; Print-Electronic
-
12Academic Journal
المؤلفون: Pottier, Cyril, Zhou, Xiaolai, Zulaica, Miren, Diehl-Schmid, Janine, Winkelmann, Juliane, Galimberti, Daniela, Graff, Caroline, Öijerstedt, Linn, Troakes, Claire, Al-Sarraj, Safa, Cruchaga, Carlos, Cairns, Nigel J, Rohrer, Jonathan D, Moreno, Fermin, Halliday, Glenda M, Kwok, John B, van Swieten, John C, White, Charles L, Ghetti, Bernardino, Murell, Jill R, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Borroni, Barbara, Rossi, Giacomina, Le Ber, Isabelle, Tagliavini, Fabrizio, Wszolek, Zbigniew K, Petersen, Ronald C, Bigio, Eileen H, Grossman, Murray, Van Deerlin, Vivianna M, Seeley, William W, Miller, Bruce L, Graff-Radford, Neill R, Boeve, Bradley F, Pasquier, Florence, Dickson, Dennis W, Biernacka, Joanna M, Rademakers, Rosa, Hannequin, Didier, Sánchez-Valle, Raquel, Antonell, Anna, Lladó, Albert, Parsons, Tammee M, Finch, NiCole A, Perkerson, Ralph B, Finger, Elizabeth C, Lippa, Carol F, Huey, Edward D, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Rissman, Robert A, Slawek, Jaroslaw, Sitek, Emilia, Baker, Matt, Johannsen, Peter, Nielsen, Jørgen E, Ren, Yingxue, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Christopher, Elizabeth, Murray, Melissa E, Bieniek, Kevin F, Evers, Bret M, Ferrari, Camilla, Jenkins, Gregory D, Rollinson, Sara, Richardson, Anna, Scarpini, Elio, Fumagalli, Giorgio G, Padovani, Alessandro, Hardy, John, Momeni, Parastoo, Ferrari, Raffaele, Frangipane, Francesca, Maletta, Raffaele, Serie, Daniel J, Anfossi, Maria, Gallo, Maura, Petrucelli, Leonard, Suh, EunRan, Lopez, Oscar L, Wong, Tsz H, van Rooij, Jeroen G J, Seelaar, Harro, Mead, Simon, Caselli, Richard J, Ghidoni, Roberta, Reiman, Eric M, Noel Sabbagh, Marwan, Kjolby, Mads, Nykjaer, Anders, Karydas, Anna M, Boxer, Adam L, Grinberg, Lea T, Grafman, Jordan, Spina, Salvatore, Oblak, Adrian, Benussi, Luisa, Mesulam, M-Marsel, Weintraub, Sandra, Geula, Changiz, Hodges, John R, Piguet, Olivier, Brooks, William S, Irwin, David J, Trojanowski, John Q, Lee, Edward B, Josephs, Keith A, Binetti, Giuliano, Parisi, Joseph E, Ertekin-Taner, Nilüfer, Knopman, David S, Nacmias, Benedetta, Piaceri, Irene, Bagnoli, Silvia, Sorbi, Sandro, Gearing, Marla, Glass, Jonathan, Beach, Thomas G, López de Munain, Adolfo, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Vonsattel, Jean-Paul, Honig, Lawrence S, Kofler, Julia, Bruni, Amalia C, Snowden, Julie, Mann, David, Pickering-Brown, Stuart
المصدر: The lancet / Neurology 17(6), 548-558 (2018). doi:10.1016/S1474-4422(18)30126-1
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Age of Onset, Aged, Case-Control Studies, Cerebellum: metabolism, Female, Frontotemporal Lobar Degeneration: genetics, Frontotemporal Lobar Degeneration: metabolism, Genetic Predisposition to Disease: genetics, Genome-Wide Association Study, Glial Cell Line-Derived Neurotrophic Factor Receptors: genetics, Glial Cell Line-Derived Neurotrophic Factor Receptors: metabolism, Humans, Male, Middle Aged, Mutation: genetics, Progranulins: genetics, Progranulins: metabolism, RNA, Messenger: metabolism, GFRA2 protein, human, GRN protein, Glial Cell Line-Derived Neurotrophic Factor Receptors, Progranulins, Messenger
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:29724592; info:eu-repo/semantics/altIdentifier/issn/1474-4465; info:eu-repo/semantics/altIdentifier/issn/1474-4422; https://pub.dzne.de/record/139956; https://pub.dzne.de/search?p=id:%22DZNE-2020-06278%22
-
13
المؤلفون: David J. Irwin, Nilufer Ertekin-Taner, Sara Rollinson, Mads Kjolby, John Hardy, Julia Kofler, Robert A. Rissman, Bernardino Ghetti, Stuart Pickering-Brown, Jonathan Glass, Carlos Cruchaga, Jonathan D. Rohrer, Keith A. Josephs, Maura Gallo, Parastoo Momeni, Emilia J. Sitek, Matthis Synofzik, Sandro Sorbi, Carlo Wilke, Oscar L. Lopez, Nigel J. Cairns, Miren Zulaica, Peter Heutink, Leonard Petrucelli, Bret M. Evers, Luisa Benussi, Jeroen van Rooij, Olivier Piguet, Sandra E. Black, Bradley F. Boeve, Cyril Pottier, Eric M. Reiman, Melissa E. Murray, Ralph B. Perkerson, Daniela Galimberti, Thomas G. Beach, Giorgio G. Fumagalli, Giacomina Rossi, David M. A. Mann, John B.J. Kwok, Harro Seelaar, Edward B. Lee, Jean-Paul Vonsattel, Didier Hannequin, Rosa Rademakers, John R. Hodges, Nicole A. Finch, John Q. Trojanowski, David S. Knopman, Yingxue Ren, Albert Lladó, Anders Nykjaer, Claire Troakes, Linn Öijerstedt, EunRan Suh, Isabelle Le Ber, Juliane Winkelmann, Ian R. Mackenzie, Glenda M. Halliday, William W. Seeley, Salvatore Spina, Simon Mead, Elio Scarpini, Fabrizio Tagliavini, Bruce L. Miller, Mariely DeJesus-Hernandez, Dennis W. Dickson, Elizabeth Christopher, Mario Masellis, Florence Pasquier, Roberta Ghidoni, Janine Diehl-Schmid, Silvia Bagnoli, Barbara Borroni, Adam L. Boxer, Adrian L. Oblak, Elizabeth Finger, Carol F. Lippa, Giuliano Binetti, Eileen H. Bigio, Vivianna M. Van Deerlin, Anna Karydas, William S. Brooks, Julie S. Snowden, Anna Richardson, Lea T. Grinberg, Manuela Neumann, Jordan Grafman, Zbigniew K. Wszolek, Edward D. Huey, Caroline Graff, John C. van Swieten, Sandra Weintraub, Raffaele Maletta, Ekaterina Rogaeva, Fermin Moreno, Raffaele Ferrari, Charles L. White, Adolfo López de Munain, Neill R. Graff-Radford, Camilla Ferrari, Jill R. Murell, Marwan N. Sabbagh, Raquel Sánchez-Valle, Marka van Blitterswijk, Alessandro Padovani, Peter Johannsen, Daniel J. Serie, Francesca Frangipane, Safa Al-Sarraj, Anna Antonell, Kevin F. Bieniek, Tsz H. Wong, Ging-Yuek Robin Hsiung, Jarosław Sławek, Matthew B. Baker, Gregory D. Jenkins, Ronald C. Petersen, Murray Grossman, Benedetta Nacmias, Tammee M. Parsons, Lawrence S. Honig, Maria Anfossi, Richard J. Caselli, Changiz Geula, Marla Gearing, M.-Marsel Mesulam, Xiaolai Zhou, Joanna M. Biernacka, Joseph E. Parisi, Irene Piaceri, Jorgen E. Nielsen, Amalia C. Bruni
المساهمون: Human genetics, Amsterdam Neuroscience - Neurodegeneration, Erasmus MC other, Neurology
المصدر: The lancet neurology
The Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
The lancet/ Neurology 17(6), 548-558 (2018). doi:10.1016/S1474-4422(18)30126-1
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, Le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N C A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E R, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, Van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations : a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1
Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J R E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J-P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G-Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, RNA, Messenger/metabolism, Genome-wide association study, Disease, Gene mutation, genetics [Progranulins], 0302 clinical medicine, Progranulins, Cerebellum, GFRA2 protein, human, Medicine, Age of Onset, genetics [Genetic Predisposition to Disease], Genetic Predisposition to Disease/genetics, Frontotemporal lobar degeneration, metabolism [Cerebellum], Middle Aged, 3. Good health, Frontotemporal Dementia, Female, genetics [Frontotemporal Lobar Degeneration], Frontotemporal dementia, medicine.medical_specialty, Glial Cell Line-Derived Neurotrophic Factor Receptors, Mutation/genetics, Genetic counseling, genetics [Mutation], Progranulins/genetics, metabolism [RNA, Messenger], Article, 03 medical and health sciences, Internal medicine, Humans, Genetic Predisposition to Disease, ddc:610, RNA, Messenger, Cerebellum/metabolism, Aged, business.industry, metabolism [Progranulins], Case-control study, genetics [Glial Cell Line-Derived Neurotrophic Factor Receptors], Odds ratio, medicine.disease, metabolism [Frontotemporal Lobar Degeneration], metabolism [Glial Cell Line-Derived Neurotrophic Factor Receptors], 030104 developmental biology, Case-Control Studies, Mutation, GRN protein, human, Frontotemporal Lobar Degeneration/genetics, Neurology (clinical), Human medicine, Frontotemporal Lobar Degeneration, business, Glial Cell Line-Derived Neurotrophic Factor Receptors/genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study
-
14
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]
-
15
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
-
16
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
-
17Academic Journal
المصدر: International journal of molecular sciences 18(3), 490 (2017). doi:10.3390/ijms18030490
مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Animals, Gene Expression Regulation, Hippocampus: metabolism, Hippocampus: physiopathology, Humans, Hypoxia: genetics, Hypoxia: metabolism, Inflammation: genetics, Inflammation: metabolism, Intercellular Signaling Peptides and Proteins: genetics, Intercellular Signaling Peptides and Proteins: metabolism, MicroRNAs: genetics, Neuroprotection: genetics, Progranulins, RNA Interference, Signal Transduction, Status Epilepticus: genetics, Status Epilepticus: metabolism, GRN protein, human, Intercellular Signaling Peptides and Proteins, MicroRNAs
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:28245590; info:eu-repo/semantics/altIdentifier/issn/1422-0067; info:eu-repo/semantics/altIdentifier/issn/1661-6596; https://pub.dzne.de/record/139103; https://pub.dzne.de/search?p=id:%22DZNE-2020-05425%22
-
18Academic Journal
المؤلفون: Wilke, Carlo, Gillardon, Frank, Synofzik, Matthis, Deuschle, Christian, Hobert, Markus A, Jansen, Iris E, Metzger, Florian G, Heutink, Peter, Gasser, Thomas, Maetzler, Walter, Blauwendraat, Cornelis
المصدر: Neurodegenerative diseases 17(2-3), 83-88 (2016). doi:10.1159/000448896
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Aged, Female, Frontotemporal Dementia: blood, Frontotemporal Dementia: cerebrospinal fluid, Frontotemporal Dementia: genetics, Humans, Intercellular Signaling Peptides and Proteins: blood, Intercellular Signaling Peptides and Proteins: cerebrospinal fluid, Intercellular Signaling Peptides and Proteins: genetics, Male, Middle Aged, Mutation, Missense, Phosphorylation, Polymorphism, Single Nucleotide, Progranulins, tau Proteins: cerebrospinal fluid, tau Proteins: metabolism, GRN protein, human, Intercellular Signaling Peptides and Proteins, MAPT protein, tau Proteins
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:27760429; info:eu-repo/semantics/altIdentifier/issn/1660-2854; info:eu-repo/semantics/altIdentifier/issn/1660-2862; https://pub.dzne.de/record/139080; https://pub.dzne.de/search?p=id:%22DZNE-2020-05402%22
-
19
المؤلفون: Mikel Tainta, Begoña Indakoetxea, Fermin Moreno, Adolfo López de Munain, Miren Zulaica, Maria Cristina Caballero, Pascual Sánchez-Juan, Suzee E. Lee, Myriam Barandiaran, Alazne Gabilondo, Ana Gorostidi, Francesc Calafell, José Félix Martí Massó
المساهمون: Dermaut, Bart
المصدر: Addi. Archivo Digital para la Docencia y la Investigación
instname
PLoS ONE, Vol 12, Iss 6, p e0178093 (2017)
PLoS ONE
PloS one, vol 12, iss 6
Recercat. Dipósit de la Recerca de Catalunyaمصطلحات موضوعية: Male, 0301 basic medicine, Aging, tau Proteins/genetics, Cytoplasm, Linkage disequilibrium, Mutation rate, haplotype, Heredity, Social Sciences, Neurodegenerative, Neuropsychological Tests, Alzheimer's Disease, medicine.disease_cause, Hippocampus, spectrum, Primary progressive aphasia, Frontotemporal Dementia/pathology, Progranulins, 0302 clinical medicine, Mutation Rate, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Psychology, Aetiology, alzheimers-disease, Genetics, Cytoplasmic Inclusions, Multidisciplinary, TDP-43 protein, human, phenotypes, Brain, Neurodegenerative Diseases, Frontotemporal lobar degeneration, Middle Aged, Amygdala, progranulin mutation, Immunohistochemistry, DNA-Binding Proteins, Frontotemporal Dementia (FTD), Genetic Mapping, Phenotype, Neurology, frontotemporal lobar degeneration, Frontotemporal Dementia, Neurological, Intercellular Signaling Peptides and Proteins, Medicine, Female, Cellular Structures and Organelles, Anatomy, Research Article, Frontotemporal dementia, Intercellular Signaling Peptides and Proteins/genetics, Mutation/genetics, General Science & Technology, Science, MAPT protein, human, tau Proteins, Biology, 03 medical and health sciences, Rare Diseases, tau Proteins/metabolism, Clinical Research, Alzheimer Disease, Neuropsychology, Mental Health and Psychiatry, Acquired Cognitive Impairment, medicine, Humans, Dementia, Family, Demography, Haplotype, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Biology and Life Sciences, Cell Biology, C9orf72 repeat expansion, medicine.disease, Brain Disorders, 030104 developmental biology, Haplotypes, variant, Spain, Mutation, GRN protein, human, Tau, 030217 neurology & neurosurgery, Neuroscience, dementia
وصف الملف: application/pdf
-
20
المؤلفون: Cornelis Blauwendraat, Javier Simón-Sánchez, Melissa Castillo-Lizardo, Emily M. Lynes, Ashutosh Dhingra, Elwira Pyz, Sasja Heetveld, Markus A. Hobert, Peter Heutink, Patrizia Rizzu, Margherita Francescatto, Matthis Synofzik
المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications 4(1), 37 (2016). doi:10.1186/s40478-016-0306-7مصطلحات موضوعية: Central Nervous System, 0301 basic medicine, Myeloid, Databases, Factual, Lipopolysaccharide Receptors, C9orf72 risk haplotype, Progranulins, C9orf72, Myeloid Cells, Genetics, Regulation of gene expression, standards [Databases, Factual], genetics [Intercellular Signaling Peptides and Proteins], metabolism [Proteins], medicine.anatomical_structure, Frontotemporal Dementia, metabolism [Frontotemporal Dementia], metabolism [Central Nervous System], Intercellular Signaling Peptides and Proteins, Haploinsufficiency, statistics & numerical data [Databases, Factual], CD14, genetics [Mutation], MAPT protein, human, tau Proteins, Locus (genetics), Biology, metabolism [Lipopolysaccharide Receptors], metabolism [Myeloid Cells], Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Animals, Humans, ddc:610, Neurodegeneration, C9orf72 Protein, metabolism [Amyotrophic Lateral Sclerosis], Research, Amyotrophic Lateral Sclerosis, Proteins, Hexanucleotide repeat expansion, genetics [Proteins], Molecular biology, Cap analysis gene expression, genetics [tau Proteins], 030104 developmental biology, Gene Expression Regulation, Mutation, GRN protein, human, Neurology (clinical), C9orf72 protein, human, Trinucleotide repeat expansion