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1. Full Text VPS35 Mutations in Parkinson Disease
by Vilariño-Güell, Carles and Wider, Christian and Ross, Owen A and Dachsel, Justus C and Kachergus, Jennifer M and Lincoln, Sarah J and Soto-Ortolaza, Alexandra I and Cobb, Stephanie A and Wilhoite, Greggory J and Bacon, Justin A and Behrouz, Bahareh and Melrose, Heather L and Hentati, Emna and Puschmann, Andreas and Evans, Daniel M and Conibear, Elizabeth and Wasserman, Wyeth W and Aasly, Jan O and Burkhard, Pierre R and Djaldetti, Ruth and Ghika, Joseph and Hentati, Faycal and Krygowska-Wajs, Anna and Lynch, Tim and Melamed, Eldad and Rajput, Alex and Rajput, Ali H and Solida, Alessandra and Wu, Ruey-Meei and Uitti, Ryan J and Wszolek, Zbigniew K and Vingerhoets, François and Farrer, Matthew J
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 162 - 167
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Endosomes - genetics | Vesicular Transport Proteins - metabolism | Humans | Middle Aged | Vesicular Transport Proteins - genetics | Gene Expression Regulation | Molecular Sequence Data | Male | Parkinson Disease - genetics | Endosomes - metabolism | Genetic Variation | trans-Golgi Network - metabolism | Biological Transport | Pedigree | Age of Onset | Vacuoles - metabolism | Adult | Female | Mutation | Genome, Human | Usage | Parkinson's disease | Gene mutations | Distribution | Causes of | Genetic aspects | Diagnosis | Nucleotide sequencing | Research | Swiss | Proteins | Genetic disorders | Parkinsons disease | Index Medicus | Neurodegenerative diseases | Wnt protein | Lysosomes | Protein turnover | Pathogenicity | Signal transduction | hydrolase | Evolution | Recycling | Protein transport | Movement disorders | Linkage analysis | Report | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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2. Full Text Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
by Pottier, Cyril and Ren, Yingxue and Perkerson III, Ralph B and Baker, Matt and Jenkins, Gregory D and van Blitterswijk, Marka and DeJesus-Hernandez, Mariely and van Rooij, Jeroen G. J and Murray, Melissa E and Christopher, Elizabeth and McDonnell, Shannon K and Fogarty, Zachary and Batzler, Anthony and Tian, Shulan and Vicente, Cristina T and Matchett, Billie and Karydas, Anna M and Hsiung, Ging-Yuek Robin and Seelaar, Harro and Mol, Merel O and Finger, Elizabeth C and Graff, Caroline and Öijerstedt, Linn and Neumann, Manuela and Heutink, Peter and Synofzik, Matthis and Wilke, Carlo and Prudlo, Johannes and Rizzu, Patrizia and Simon-Sanchez, Javier and Edbauer, Dieter and Roeber, Sigrun and Diehl-Schmid, Janine and Evers, Bret M and King, Andrew and Mesulam, M Marsel and Weintraub, Sandra and Geula, Changiz and Bieniek, Kevin F and Petrucelli, Leonard and Ahern, Geoffrey L and Reiman, Eric M and Woodruff, Bryan K and Caselli, Richard J and Huey, Edward D and Farlow, Martin R and Grafman, Jordan and Mead, Simon and Grinberg, Lea T and Spina, Salvatore and Grossman, Murray and Irwin, David J and Lee, Edward B and Suh, EunRan and Snowden, Julie and Mann, David and Ertekin-Taner, Nilufer and Uitti, Ryan J and Wszolek, Zbigniew K and Josephs, Keith A and Parisi, Joseph E and Knopman, David S and Petersen, Ronald C and Hodges, John R and Piguet, Olivier and Geier, Ethan G and Yokoyama, Jennifer S and Rissman, Robert A and Rogaeva, Ekaterina and Keith, Julia and Zinman, Lorne and Tartaglia, Maria Carmela and Cairns, Nigel J and Cruchaga, Carlos and Ghetti, Bernardino and Kofler, Julia and Lopez, Oscar L and Beach, Thomas G and Arzberger, Thomas and Herms, Jochen and Honig, Lawrence S and Vonsattel, Jean Paul and Halliday, Glenda M and Kwok, John B and White III, Charles L and Gearing, Marla and Glass, Jonathan and Rollinson, Sara and Pickering-Brown, Stuart and Rohrer, Jonathan D and Trojanowski, John Q and Van Deerlin, Vivianna and Bigio, Eileen H and Troakes, Claire and Al-Sarraj, Safa and Asmann, Yan and Miller, Bruce L and Graff-Radford, Neill R and Boeve, Bradley F and Seeley, William W and ...
Acta neuropathologica, ISSN 0001-6322, 6/2019, Volume 137, Issue 6, pp. 879 - 899
Pathology | Neurosciences | DPP6 | TBK1 | UNC13A | Medicine & Public Health | HLA | Immunity | Whole-genome sequencing FTLD-TDP | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Consortia | Medical research | Medical colleges | Genomics | Medicine, Experimental | Genetic research | Genomes | Nucleotide sequencing | Protein binding | DNA sequencing | Nucleotide sequence | Neurodegenerative diseases | Chromosome 7 | Risk factors | Interferon regulatory factor 7 | DNA-binding protein | Genotyping | Neurodegeneration | Etiology | Histocompatibility antigen HLA | Gene loci | Mutation | Genetic factors | Frontotemporal dementia | Index Medicus | Medicin och hälsovetenskap
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3. Full Text A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
by van der Lee, S.J and Conway, Olivia J and Hansen, Iris and Carrasquillo, Minerva M and Kleineidam, Luca and van den Akker, E.B and Hulsman, M and Tesi, N and Reinders, M.J.T and IPDGC Int Parkinson Dis Genomics and IFGC Int FTD-Genomics and RiMod-FTD Risk Modifying and EADB Alzheimer Dis European and Netherlands Brain Bank NBB and GIFT Genetic Invest and DESGESCO Dementia Genetics and RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia) and IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) and Netherlands Brain Bank (NBB) and IPDGC (The International Parkinson Disease Genomics Consortium) and DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank) and GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group and The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group and Institute of Neuroscience and Physiology and Centrum för åldrande och hälsa (AgeCap) and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Sahlgrenska akademin and Centre for Ageing and Health (Agecap) and Institutionen för neurovetenskap och fysiologi
Acta neuropathologica, ISSN 0001-6322, 2019, Volume 138, Issue 2, pp. 237 - 250
Multiple sclerosis | Alzheimer’s disease | Progressive supranuclear palsy | PLCG2 | Amyotrophic lateral sclerosis | Neurodegenerative disease | Phospholipase C Gamma 2 | Longevity | Frontotemporal dementia | Parkinson’s disease | Dementia with Lewy bodies | Neurosciences | Pathology | Medicine & Public Health | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Advertising executives | Medical research | Medicine, Experimental | Development and progression | Genetic aspects | Alzheimer's disease | Risk factors | Parkinson's disease | Disease | Neurodegenerative diseases | Lewy bodies | Genetic variance | Etiology | Alleles | Dementia disorders | Movement disorders | Dementia | Immune system | Index Medicus | Original Paper | innate immunity | inflammation | mechanisms | Neurovetenskaper | replication | genetic architecture | apoe | autoimmunity | genome-wide association | phospholipase-c-gamma | activation
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4. Full Text Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
by Chartier-Harlin, Marie-Christine and Dachsel, Justus C and Vilariño-Güell, Carles and Lincoln, Sarah J and Leprêtre, Frédéric and Hulihan, Mary M and Kachergus, Jennifer and Milnerwood, Austen J and Tapia, Lucia and Song, Mee-Sook and Le Rhun, Emilie and Mutez, Eugénie and Larvor, Lydie and Duflot, Aurélie and Vanbesien-Mailliot, Christel and Kreisler, Alexandre and Ross, Owen A and Nishioka, Kenya and Soto-Ortolaza, Alexandra I and Cobb, Stephanie A and Melrose, Heather L and Behrouz, Bahareh and Keeling, Brett H and Bacon, Justin A and Hentati, Emna and Williams, Lindsey and Yanagiya, Akiko and Sonenberg, Nahum and Lockhart, Paul J and Zubair, Abba C and Uitti, Ryan J and Aasly, Jan O and Krygowska-Wajs, Anna and Opala, Grzegorz and Wszolek, Zbigniew K and Frigerio, Roberta and Maraganore, Demetrius M and Gosal, David and Lynch, Tim and Hutchinson, Michael and Bentivoglio, Anna Rita and Valente, Enza Maria and Nichols, William C and Pankratz, Nathan and Foroud, Tatiana and Gibson, Rachel A and Hentati, Faycal and Dickson, Dennis W and Destée, Alain and Farrer, Matthew J
American journal of human genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, pp. 398 - 406
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Immunoprecipitation | Humans | Molecular Sequence Data | Genotype | Parkinson Disease - genetics | Mutation, Missense - genetics | DNA Copy Number Variations | Flow Cytometry | DNA Mutational Analysis | Pedigree | Base Sequence | Cloning, Molecular | Eukaryotic Initiation Factor-4G - genetics | Protein Biosynthesis - genetics | Mitochondria - physiology | Chromosomes, Human, Pair 3 - genetics | Genetic Linkage | Usage | French | Linkage (Genetics) | Parkinson's disease | Gene mutations | Lewy body disease | Genetic aspects | Research | Diagnosis | Proteins | Genotype & phenotype | Mutation | Chromosomes | Binding sites | Parkinsons disease | Index Medicus
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5. Full Text Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
by Hoglinger, Gunter and Melhem, Nadine and Dickson, Dennis and Sleiman, Patrick and Wang, Li-San and Klei, Lambertus and Rademakers, Rosa and Silva, Rohan and Litvan, Irene and Riley, David and Swieten, John and Heutink, Peter and Wszolek, Zbigniew and Uitti, Ryan and Vanovcova, Jana and Hurtig, Howard and Gross, Rachel and Maetzler, Walter and Goldwurm, Stefano and Tolosa, E and Borroni, Barbara and Pastor, Pau and Cantwell, Laura and Han, M.R and Dillman, Allissa and Brug, Marcel and Gibbs, Raphael and Cookson, Mark and Hernandez, Dena and Singleton, Anew and Farrer, Matthew and Yu, Changen and Golbe, Lawrence and Revesz, Tamas and Hardy, John and Lees, Anew and Devlin, Bernie and Hakonarson, Hakon and Müller, Ulrich and Schellenberg, Gerard and Albin, Roger and Alonso, Elena and Apfelbacher, Manuela and Arnold, Steven and Avila, Jesús and Beach, Thomas and Beecher, Sherry and Berg, Daniela and Bird, Thomas and Bogdanović, Nenad and Boon, Anea and Bordelon, Yvette and Brice, Alexis and Budka, Herbert and Canesi, Margherita and Chiu, Wang Zheng and Cilia, Roberto and Colosimo, Carlo and Deyn, Peter and Yebenes, J.G and Donker Kaat, Laura and Duara, Ranjan and Durr, A and Engelborghs, Sebastiaan and Fabbrini, Giovanni and Finch, Nicole and Flook, Robyn and Frosch, Matthew and Gaig, C and Galasko, Douglas and Gasser, Thomas and Gearing, Marla and Geller, Evan and Ghetti, Bernardino and Graff-Radford, Neill and Grossman, Murray and Hall, Deborah and Hazrati, L.-N and Höllerhage, Matthias and Jankovic, Joseph and Juncos, Jorge and Karydas, Anna and Kretzschmar, Hans and Leber, Isabelle and Lee, Virginia and Lieberman, Anew and Lyons, Kelly and Mariani, Claudio and Masliah, Eliezer and Massey, Luke and McLean, Catriona and Meucci, Nicoletta and Miller, Bruce and Mollenhauer, Brit and Möller, Jens and Morris, Huw and O'Sullivan, Sean and Oertel, W and Ottaviani, Donatella and Padovani, Alessano and ... and PSP Genetics Study Grp and PSP Genetics Study Group
Nature genetics, ISSN 1061-4036, 07/2011, Volume 43, Issue 7, pp. 699 - 705
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes | Biological and medical sciences | Oculomotor disorders | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Nervous system (semeiology, syndromes) | Genetic Predisposition to Disease | Genome-Wide Association Study | Prognosis | Supranuclear Palsy, Progressive - pathology | Tauopathies - genetics | Chromosomes, Human - genetics | Humans | Risk Factors | Tauopathies - pathology | Genetic Loci | Case-Control Studies | Genetic Variation | tau Proteins - genetics | Polymorphism, Single Nucleotide - genetics | Supranuclear Palsy, Progressive - genetics | Cohort Studies | Complications and side effects | Parkinson's disease | Genetic susceptibility | Progressive supranuclear palsy | Genetic variation | Physiological aspects | Development and progression | Genetic aspects | Research | Risk factors | Genealogy | Quality control | Genomes | Health risk assessment | Design of experiments | Manuscripts | Brain diseases | Index Medicus
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6. Full Text Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
by van der Lee, Sven J and Conway, Olivia J and Jansen, Iris and Carrasquillo, Minerva M and Kleineidam, Luca and van den Akker, Erik and Hernández, Isabel and van Eijk, Kristel R and Stringa, Najada and Chen, Jason A and Zettergren, Anna and Andlauer, Till F M and Diez-Fairen, Monica and Simon-Sanchez, Javier and Lleó, Alberto and Zetterberg, Henrik and Nygaard, Marianne and Blauwendraat, Cornelis and Savage, Jeanne E and Mengel-From, Jonas and Moreno-Grau, Sonia and Wagner, Michael and Fortea, Juan and Keogh, Michael J and Blennow, Kaj and Skoog, Ingmar and Friese, Manuel A and Pletnikova, Olga and Zulaica, Miren and Lage, Carmen and de Rojas, Itziar and Riedel-Heller, Steffi and Illán-Gala, Ignacio and Wei, Wei and Jeune, Bernard and Orellana, Adelina and Then Bergh, Florian and Wang, Xue and Hulsman, Marc and Beker, Nina and Tesi, Niccolo and Morris, Christopher M and Indakoetxea, Begoña and Collij, Lyduine E and Scherer, Martin and Morenas-Rodríguez, Estrella and Ironside, James W and van Berckel, Bart N M and Alcolea, Daniel and Wiendl, Heinz and Strickland, Samantha L and Pastor, Pau and Rodríguez Rodríguez, Eloy and Boeve, Bradley F and Petersen, Ronald C and Ferman, Tanis J and van Gerpen, Jay A and Reinders, Marcel J T and Uitti, Ryan J and Tárraga, Lluís and Maier, Wolfgang and Dols-Icardo, Oriol and Kawalia, Amit and Dalmasso, Maria Carolina and Boada, Mercè and Zettl, Uwe K and van Schoor, Natasja M and Beekman, Marian and Allen, Mariet and Masliah, Eliezer and de Munain, Adolfo López and Pantelyat, Alexander and Wszolek, Zbigniew K and Ross, Owen A and Dickson, Dennis W and Graff-Radford, Neill R and Knopman, David and Rademakers, Rosa and Lemstra, Afina W and Pijnenburg, Yolande A L and Scheltens, Philip and Gasser, Thomas and Chinnery, Patrick F and Hemmer, Bernhard and Huisman, Martijn A and Troncoso, Juan and Moreno, Fermin and Nohr, Ellen A and Sørensen, Thorkild I A and Heutink, Peter and Sánchez-Juan, Pascual and Posthuma, Danielle and Clarimón, Jordi and Christensen, Kaare and Ertekin-Taner, Nilüfer and Scholz, Sonja W and Ramirez, Alfredo and Ruiz, Agustín and Slagboom, Eline and van der Flier, Wiesje M and ... and DESGESCO (Dementia Genetics Spanish Consortium) and RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia) and EADB (Alzheimer Disease European DNA biobank) and Netherlands Brain Bank (NBB) and IFGC (International FTD-Genomics Consortium) and IPDGC (The International Parkinson Disease Genomics Consortium) and GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group and The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group and Centrum för åldrande och hälsa (AgeCap) and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy and Sahlgrenska akademin and Centre for Ageing and Health (Agecap)
Acta neuropathologica, ISSN 0001-6322, 05/2020, Volume 139, Issue 5, pp. 959 - 962
Genetic aspects | Parkinson's disease | Alzheimer's disease | Risk factors | Neurodegenerative diseases | Dementia disorders | Frontotemporal dementia | Movement disorders | Lewy bodies | Dementia | Index Medicus | Neurosciences | Neurovetenskaper
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