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1. Full Text A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
by Gijselinck, Ilse, PhD and Van Langenhove, Tim, MD and van der Zee, Julie, PhD and Sleegers, Kristel, PhD and Philtjens, Stéphanie, MSc and Kleinberger, Gernot, MSc and Janssens, Jonathan, MSc and Bettens, Karolien, PhD and Van Cauwenberghe, Caroline, MSc and Pereson, Sandra, MSc and Engelborghs, Sebastiaan, Prof and Sieben, Anne, MD and De Jonghe, Peter, Prof and Vandenberghe, Rik, Prof and Santens, Patrick, Prof and De Bleecker, Jan, Prof and Maes, Githa, MSc and Bäumer, Veerle, BSc and Dillen, Lubina, PhD and Joris, Geert, BSc and Cuijt, Ivy, MSc and Corsmit, Ellen, BSc and Elinck, Ellen, MSc and Van Dongen, Jasper, BSc and Vermeulen, Steven, MSc and Van den Broeck, Marleen, BSc and Vaerenberg, Carolien, MSc and Mattheijssens, Maria, BSc and Peeters, Karin, BSc and Robberecht, Wim, Prof and Cras, Patrick, Prof and Martin, Jean-Jacques, Prof and De Deyn, Peter P, Prof and Cruts, Marc, Prof and Van Broeckhoven, Christine, Prof
Lancet neurology, ISSN 1474-4422, 2012, Volume 11, Issue 1, pp. 54 - 65
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Promoter Regions, Genetic | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Genotype | Male | Chromosomes, Human, Pair 9 | Genetic Loci | DNA Repeat Expansion | DNA Mutational Analysis | Age of Onset | Adult | Female | Aged | Polymorphism, Single Nucleotide | Frontotemporal Lobar Degeneration - genetics | Cohort Studies | Medical research | Molecular genetics | Analysis | Genes | Genetic research | Medicine, Experimental | Amyotrophic lateral sclerosis | Genetic aspects | Index Medicus | Brain | haploinsufficiency | Genotyping | genomics | Single-nucleotide polymorphism | Mutation | Frontotemporal dementia | chromosome 9 | Age | Promoters
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2. Full Text Frontotemporal dementia and its subtypes: a genome-wide association study
by Ferrari, Raffaele, PhD and Hernandez, Dena G, MSc and Nalls, Michael A, PhD and Rohrer, Jonathan D, PhD and Ramasamy, Adaikalavan, PhD and Kwok, John B J, PhD and Dobson-Stone, Carol, PhD and Brooks, William S, MBBS and Schofield, Peter R, Prof and Halliday, Glenda M, Prof and Hodges, John R, Prof and Piguet, Olivier, PhD and Bartley, Lauren, MSc and Thompson, Elizabeth, MD and Haan, Eric, Prof and Hernández, Isabel, MD and Ruiz, Agustín, MD and Boada, Mercè, MD and Borroni, Barbara, MD and Padovani, Alessandro, Prof and Cruchaga, Carlos, PhD and Cairns, Nigel J, Prof and Benussi, Luisa, PhD and Binetti, Giuliano, MD and Ghidoni, Roberta, PhD and Forloni, Gianluigi, PhD and Galimberti, Daniela, PhD and Fenoglio, Chiara, PhD and Serpente, Maria, PhD and Scarpini, Elio, MD and Clarimón, Jordi, PhD and Lleó, Alberto, MD and Blesa, Rafael, MD and Waldö, Maria Landqvist, MD and Nilsson, Karin, PhD and Nilsson, Christer, PhD and Mackenzie, Ian R A, Prof and Hsiung, Ging-Yuek R, MD and Mann, David M A, Prof and Grafman, Jordan, Prof and Morris, Christopher M, PhD and Attems, Johannes, Prof and Griffiths, Timothy D, Prof and McKeith, Ian G, Prof and Thomas, Alan J, Prof and Pietrini, P, Prof and Huey, Edward D, MD and Wassermann, Eric M, MD and Baborie, Atik, MD and Jaros, Evelyn, PhD and Tierney, Michael C, MSc and Pastor, Pau, MD and Razquin, Cristina, PhD and Ortega-Cubero, Sara, MD and Alonso, Elena, BSc and Perneczky, Robert, MD and Diehl-Schmid, Janine, MD and Alexopoulos, Panagiotis, MD and Kurz, Alexander, MD and Rainero, Innocenzo, MD and Rubino, Elisa, MD and Pinessi, Lorenzo, Prof and Rogaeva, Ekaterina, PhD and St George-Hyslop, Peter, MD and Rossi, Giacomina, PhD and Tagliavini, Fabrizio, MD and Giaccone, Giorgio, MD and Rowe, James B, PhD and Schlachetzki, Johannes C M, MD and Uphill, James, BSc and Collinge, John, Prof and Mead, Simon, Prof and Danek, Adrian, MD and Van Deerlin, Vivianna M, PhD and Grossman, Murray, Prof and Trojanowski, John Q, Prof and van der Zee, Julie, PhD and Deschamps, William, MSc and Van Langenhove, Tim, MD and Cruts, Marc, PhD and Van Broeckhoven, Christine, Prof and Cappa, Stefano F, Prof and Le Ber, Isabelle, MD and Hannequin, Didier, Prof and Golfier, Véronique, MD and Vercelletto, Martine, MD and Brice, Alexis, MD and Nacmias, Benedetta, PhD and Sorbi, Sandro, Prof and Bagnoli, Silvia, PhD and Piaceri, Irene, PhD and Nielsen, Jørgen E, MD and Hjermind, Lena E, MD and Riemenschneider, Matthias, Prof and Mayhaus, Manuel, PhD and Ibach, Bernd, PhD and Gasparoni, Gilles, PhD and Pichler, Sabrina, MSc and Gu, Wei, PhD and Rossor, Martin N, Prof and ...
Lancet neurology, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Dementia - genetics | Humans | Middle Aged | Aged, 80 and over | Adult | Female | Genotype | Male | Aged | Frontotemporal Dementia - diagnosis | Genome-Wide Association Study - methods | Frontotemporal Dementia - classification | Genetic research | Genomics | Dementia | Genealogy | Principal components analysis | Genomes | Patients | Proteins | Studies | Pathology | Semantics | Consent | Quality control | Aging | Aphasia | DNA methylation | Mutation | Genetic testing | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
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3. Full Text A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
by van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Engelborghs, Sebastiaan and Philtjens, Stéphanie and Vandenbulcke, Mathieu and Sleegers, Kristel and Sieben, Anne and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl‐Schmid, Janine and de Mendonça, Alexandre and Miltenberger‐Miltenyi, Gabriel and Pereira, Sónia and Pimentel, José and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Graff, Caroline and Chiang, Huei‐Hsin and Westerlund, Marie and Sanchez‐Valle, Raquel and Llado, Albert and Gelpi, Ellen and Santana, Isabel and Almeida, Maria Rosário and Santiago, Beatriz and Frisoni, Giovanni and Zanetti, Orazio and Bonvicini, Cristian and Synofzik, Matthis and Maetzler, Walter and vom Hagen, Jennifer Müller and Schöls, Ludger and Heneka, Michael T and Jessen, Frank and Matej, Radoslav and Parobkova, Eva and Kovacs, Gabor G and Ströbel, Thomas and Sarafov, Stayko and Tournev, Ivailo and Jordanova, Albena and Danek, Adrian and Arzberger, Thomas and Fabrizi, Gian Maria and Testi, Silvia and Salmon, Eric and Santens, Patrick and Martin, Jean‐Jacques and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter Paul and Cruts, Marc and Van Broeckhoven, Christine and van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Philtjens, Stéphanie and Sleegers, Kristel and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Cruts, Marc and Van Broeckhoven, Christine and van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Philtjens, Stéphanie and Theuns, Jessie and Sleegers, Kristel and Bäumer, Veerle and Maes, Githa and Cruts, Marc and Van Broeckhoven, Christine and Engelborghs, Sebastiaan and De Deyn, Peter P and Cras, Patrick and Engelborghs, Sebastiaan and De Deyn, Peter P and Vandenbulcke, Mathieu and Vandenbulcke, Mathieu and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl‐Schmid, Janine and Synofzik, Matthis and Maetzler, Walter and Müller vom Hagen, Jennifer and ... and European Early-Onset Dementia EOD and European Early-Onset Dementia Consortium
Human mutation, ISSN 1059-7794, 02/2013, Volume 34, Issue 2, pp. 363 - 373
European Early‐Onset Dementia consortium | repeat expansion | FTLD | C9orf72 | intermediate alleles | Repeat expansion | Intermediate alleles | European Early-Onset Dementia consortium | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Genomic Instability | Prevalence | Humans | Middle Aged | Molecular Sequence Data | Chromosomes, Human, Pair 9 - genetics | DNA Repeat Expansion | Base Sequence | Aged, 80 and over | Adult | C9orf72 Protein | Europe - epidemiology | Sweden - epidemiology | Germany - epidemiology | Proteins - genetics | Spain - epidemiology | Age of Onset | Alleles | Aged | Frontotemporal Lobar Degeneration - genetics | Alzheimer Disease - genetics | Frontotemporal Lobar Degeneration - epidemiology | Genome-Wide Association Study - methods | Finland - epidemiology | Cohort Studies | Analysis | Genes | Genetic research | Universities and colleges | Genetic transcription | Alzheimer's disease | Prevalence studies (Epidemiology) | Index Medicus | Medicin och hälsovetenskap
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4. Full Text Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
by Cacace, R and Heeman, B and Mossevelde, S and Roeck, A and Hoogmartens, J and Rijk, Peter and Gossye, H and de Vos, K and Coster, W and Strazisar, M and De Baets, G and Schymkowitz, J and Rousseau, Francois and Geerts, N and Pooter, Tim and Peeters, Karin and Sieben, A and Martin, John and Engelborghs, Sebastiaan and Salmon, E and Santens, Patrick and Vandenberghe, Rik and Cras, Patrick and Deyn, Peter and Swieten, John and Duijn, C.M and Zee, Johan and Sleegers, Kristel and Broeckhoven, Christine and Goeman, J and Crols, R and Nuytten, D and De Bleecker, J.L and Van Langenhove, T and Ivanoiu, A and Deryck, O and Bergmans, B and Versijpt, J and Michotte, A and Delbeck, J and Willems, C and De Klippel, N and BELNEU Consortium and the BELNEU Consortium
Acta neuropathologica, ISSN 0001-6322, 03/2019, Volume 137, Issue 6, pp. 901 - 918
Neurodegenerative brain diseases · Dementia · DPP6 · Hyperexcitability · Whole genome sequencing · Oxford nanopore technologies (ONT) PromethION | Pathology | Neurosciences | DPP6 | Medicine & Public Health | Neurodegenerative brain diseases | Whole genome sequencing | Hyperexcitability | Oxford nanopore technologies (ONT) PromethION | Dementia | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medical research | Neurons | Analysis | Genomics | Medicine, Experimental | Genomes | Genetic aspects | Nucleotide sequencing | Alzheimer's disease | DNA sequencing | Haplotypes | Peptidase | Disease | Channel gating | Excitability | Homeostasis | Chromosome rearrangements | Neurodegeneration | Coding | Genetic analysis | Dementia disorders | Potassium channels (voltage-gated) | Frontotemporal dementia | Hippocampus | Age | Index Medicus | Original Paper
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5. Full Text Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
by van der Zee, Julie and Van Langenhove, Tim and Kovacs, Gabor G and Dillen, Lubina and Deschamps, William and Engelborghs, Sebastiaan and Matěj, Radoslav and Vandenbulcke, Mathieu and Sieben, Anne and Dermaut, Bart and Smets, Katrien and Van Damme, Philip and Merlin, Céline and Laureys, Annelies and Van Den Broeck, Marleen and Mattheijssens, Maria and Peeters, Karin and Benussi, Luisa and Binetti, Giuliano and Ghidoni, Roberta and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Pastor, Pau and Razquin, Cristina and Ortega-Cubero, Sara and Hernández, Isabel and Boada, Mercè and Ruiz, Agustín and de Mendonça, Alexandre and Miltenberger-Miltényi, Gabriel and do Couto, Frederico Simões and Sorbi, Sandro and Nacmias, Benedetta and Bagnoli, Silvia and Graff, Caroline and Chiang, Huei-Hsin and Thonberg, Håkan and Perneczky, Robert and Diehl-Schmid, Janine and Alexopoulos, Panagiotis and Frisoni, Giovanni B and Bonvicini, Christian and Synofzik, Matthis and Maetzler, Walter and vom Hagen, Jennifer Müller and Schöls, Ludger and Haack, Tobias B and Strom, Tim M and Prokisch, Holger and Dols-Icardo, Oriol and Clarimón, Jordi and Lleó, Alberto and Santana, Isabel and Almeida, Maria Rosário and Santiago, Beatriz and Heneka, Michael T and Jessen, Frank and Ramirez, Alfredo and Sanchez-Valle, Raquel and Llado, Albert and Gelpi, Ellen and Sarafov, Stayko and Tournev, Ivailo and Jordanova, Albena and Parobkova, Eva and Fabrizi, Gian Maria and Testi, Silvia and Salmon, Eric and Ströbel, Thomas and Santens, Patrick and Robberecht, Wim and De Jonghe, Peter and Martin, Jean-Jacques and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter Paul and Cruts, Marc and Sleegers, Kristel and Van Broeckhoven, Christine
Acta neuropathologica, ISSN 0001-6322, 9/2014, Volume 128, Issue 3, pp. 397 - 410
Pathology | Neurosciences | Medicine & Public Health | FTLD | Rare variants | ALS | Sequestosome 1 | SQSTM1 | p62 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Lobar Degeneration - pathology | Genetic Predisposition to Disease - genetics | Meta-Analysis as Topic | Sequestosome-1 Protein | Europe | Humans | Middle Aged | Male | International Cooperation | DNA-Binding Proteins - genetics | Amyotrophic Lateral Sclerosis | Animals | DNA Mutational Analysis | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Frontotemporal Lobar Degeneration - genetics | Cohort Studies | Physiological aspects | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Population genetics | Analysis | Index Medicus | Original Paper | Medicin och hälsovetenskap
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6. Full Text Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
by Le Ber, Isabelle and Camuzat, Agnès and Hannequin, Didier and Pasquier, Florence and Guedj, Eric and Rovelet-Lecrux, Anne and Hahn-Barma, Valérie and van der Zee, Julie and Clot, Fabienne and Bakchine, Serge and Puel, Michèle and Ghanim, Mustapha and Lacomblez, Lucette and Mikol, Jacqueline and Deramecourt, Vincent and Lejeune, Pascal and de la Sayette, Vincent and Belliard, Serge and Vercelletto, Martine and Meyrignac, Christian and Van Broeckhoven, Christine and Lambert, Jean-Charles and Verpillat, Patrice and Campion, Dominique and Habert, Marie-Odile and Dubois, Bruno and Brice, Alexis and French Res Network FTD and French research network on FTD/FTD-MND
Brain (London, England : 1878), ISSN 0006-8950, 3/2008, Volume 131, Issue 3, pp. 732 - 746
GRN | Progranulin | FTDU-17 | PGRN | Frontotemporal dementia | Primary progressive aphasia | Corticobasal degeneration | Ubiquitin-positive inclusions | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Dementia - psychology | Humans | Middle Aged | Male | Dementia - genetics | Motor Neuron Disease - genetics | Cognition Disorders - etiology | Aged, 80 and over | Adult | Female | Dementia - pathology | Brain - physiopathology | Intercellular Signaling Peptides and Proteins - genetics | Aphasia, Primary Progressive - genetics | Brain Mapping - methods | Disease Progression | Neuropsychological Tests | Magnetic Resonance Imaging | Phenotype | Epidemiologic Methods | Age of Onset | Brain - pathology | Heterozygote | Aged | Mutation | Index Medicus | Abridged Index Medicus | Brain | Intercellular Signaling Peptides and Proteins | Motor Neuron Disease | Neurons and Cognition | Aphasia, Primary Progressive | Life Sciences | Cognition Disorders | Brain Mapping | Dementia
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