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1. Full Text APOE and aging-related cognitive change in a longitudinal cohort of men
by Rantalainen, Ville, MA (Psych.) and Lahti, Jari, PhD and Henriksson, Markus, MD, PhD and Kajantie, Eero, MD and Tienari, Pentti, MD and Eriksson, Johan G., MD and Raikkonen, Katri, PhD
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 44, pp. 151 - 158
Abstract We examined associations between APOE major isoforms, rs405509 promoter and rs440446 intron-1 polymorphisms and non-pathological cognitive aging. Men... 
Neurology | Internal Medicine | Normal cognitive aging | APOE | longitudinal studies | Longitudinal studies | DEVELOPING ALZHEIMERS-DISEASE | METAANALYSIS | DEPOSITION | APOLIPOPROTEIN-E GENE | TRAJECTORIES | RISK | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | POLYMORPHISMS | GROWTH | NEUROBIOLOGY | ASSOCIATION | Humans | Middle Aged | Aging - psychology | Male | Cognition | Polymorphism, Genetic | Young Adult | Aging - genetics | Apolipoproteins E - genetics | Protein Isoforms | Adolescent | Alleles | Adult | Aged | Longitudinal Studies | Cohort Studies | Chronic diseases | Apolipoproteins | Analysis | Children's hospitals
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2. Full Text Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
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3. Full Text Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
by Laaksovirta, Hannu, MD and Peuralinna, Terhi, MSc and Schymick, Jennifer C, PhD and Scholz, Sonja W, MD and Lai, Shaoi-Lin, MD and Myllykangas, Liisa, MD and Sulkava, Raimo, MD and Jansson, Lilja and Hernandez, Dena G, MSc and Gibbs, J Raphael, BS and Nalls, Michael A, PhD and Heckerman, David, MD and Tienari, Pentti J, MD and Traynor, Bryan J, Dr
Lancet Neurology, The, ISSN 1474-4422, 2010, Volume 9, Issue 10, pp. 978 - 985
Summary Background The genetic cause of amyotrophic lateral sclerosis (ALS) is not well understood. Finland is a well suited location for a genome-wide... 
Neurology | POPULATION | DEMENTIA | VARIANTS | FAMILIES | SUSCEPTIBILITY | ALS | MOTOR-NEURON DISEASE | PREVALENCE | FRONTOTEMPORAL LOBAR DEGENERATION | LINKAGE | CLINICAL NEUROLOGY | Genetic Predisposition to Disease - genetics | Superoxide Dismutase - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Genetic Loci - genetics | Male | Young Adult | Chromosomes, Human, Pair 9 - genetics | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Amyotrophic Lateral Sclerosis - enzymology | Superoxide Dismutase-1 | Genetic Predisposition to Disease - epidemiology | Genome-Wide Association Study - methods | Finland - epidemiology | Amyotrophic Lateral Sclerosis - epidemiology | Cohort Studies | Genetic research | Amyotrophic lateral sclerosis | Genetic aspects | Genomics | Risk factors
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4. Full Text Interactions of Functional Apolipoprotein E Gene Promoter Polymorphisms With Smoking on Aortic Atherosclerosis
by Viiri, Leena E and Viiri, Keijo M and Ilveskoski, Erkki and Huhtala, Heini and Maki, Markku and Tienari, Pentti J and Perola, Markus and Lehtimaki, Terho and Karhunen, Pekka J
Circulation: Cardiovascular Genetics, ISSN 0016-6731, 12/2008, Volume 1, Issue 2, pp. 107 - 116
Interactions of Functional Apolipoprotein E Gene Promoter Polymorphisms With Smoking on Aortic Atherosclerosis Leena E. Viiri, PhD ; Keijo M. Viiri, MSc ;... 
apolipoprotein | CARDIAC & CARDIOVASCULAR SYSTEMS | genetics | genetic transcription | smoking | GENETICS & HEREDITY | death, sudden | lesion | Haplotypes | Promoter Regions, Genetic | Genetic Predisposition to Disease | Apolipoprotein E4 - genetics | Apolipoprotein E2 - genetics | Atherosclerosis - genetics | Humans | Middle Aged | Genotype | Male | Hep G2 Cells | Polymorphism, Genetic | Aortic Diseases - genetics | Apolipoprotein E3 - genetics | Apolipoproteins E - genetics | Alleles | Adult | Aged | Smoking
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5. Full Text RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
by Donnelly, Christopher J and Zhang, Ping-Wu and Pham, Jacqueline T and Haeusler, Aaron R and Mistry, Nipun A and Vidensky, Svetlana and Daley, Elizabeth L and Poth, Erin M and Hoover, Benjamin and Fines, Daniel M and Maragakis, Nicholas and Tienari, Pentti J and Petrucelli, Leonard and Traynor, Bryan J and Wang, Jiou and Rigo, Frank and Bennett, C. Frank and Blackshaw, Seth and Sattler, Rita and Rothstein, Jeffrey D
Neuron, ISSN 0896-6273, 10/2013, Volume 80, Issue 2, pp. 415 - 428
A hexanucleotide GGGGCC repeat expansion in the noncoding region of the gene is the most common genetic abnormality in familial and sporadic amyotrophic... 
REPEAT EXPANSION | FRONTOTEMPORAL DEMENTIA | IN-VIVO | GLUTAMATE TRANSPORTER | MECHANISMS | AMYOTROPHIC-LATERAL-SCLEROSIS | TIME-COURSE | PROTEINS | HEXANUCLEOTIDE REPEAT | NEUROSCIENCES | GGGGCC REPEAT | Neurosciences | RNA | Stem cells | Amyotrophic lateral sclerosis | Gene expression | Dementia | Protein binding
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6. Full Text A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
by Renton, Alan E and Majounie, Elisa and Waite, Adrian and Simón-Sánchez, Javier and Rollinson, Sara and Gibbs, J. Raphael and Schymick, Jennifer C and Laaksovirta, Hannu and van Swieten, John C and Myllykangas, Liisa and Kalimo, Hannu and Paetau, Anders and Abramzon, Yevgeniya and Remes, Anne M and Kaganovich, Alice and Scholz, Sonja W and Duckworth, Jamie and Ding, Jinhui and Harmer, Daniel W and Hernandez, Dena G and Johnson, Janel O and Mok, Kin and Ryten, Mina and Trabzuni, Danyah and Guerreiro, Rita J and Orrell, Richard W and Neal, James and Murray, Alex and Pearson, Justin and Jansen, Iris E and Sondervan, David and Seelaar, Harro and Blake, Derek and Young, Kate and Halliwell, Nicola and Callister, Janis Bennion and Toulson, Greg and Richardson, Anna and Gerhard, Alex and Snowden, Julie and Mann, David and Neary, David and Nalls, Michael A and Peuralinna, Terhi and Jansson, Lilja and Isoviita, Veli-Matti and Kaivorinne, Anna-Lotta and Hölttä-Vuori, Maarit and Ikonen, Elina and Sulkava, Raimo and Benatar, Michael and Wuu, Joanne and Chiò, Adriano and Restagno, Gabriella and Borghero, Giuseppe and Sabatelli, Mario and Heckerman, David and Rogaeva, Ekaterina and Zinman, Lorne and Rothstein, Jeffrey D and Sendtner, Michael and Drepper, Carsten and Eichler, Evan E and Alkan, Can and Abdullaev, Ziedulla and Pack, Svetlana D and Dutra, Amalia and Pak, Evgenia and Hardy, John and Singleton, Andrew and Williams, Nigel M and Heutink, Peter and Pickering-Brown, Stuart and Morris, Huw R and Tienari, Pentti J and Traynor, Bryan J and ITALSGEN Consortium
Neuron, ISSN 0896-6273, 10/2011, Volume 72, Issue 2, pp. 257 - 268
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes... 
POPULATION | HUMAN GENOME | DEMENTIA | TDP-43 | SUSCEPTIBILITY | COMMON | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | FRONTOTEMPORAL LOBAR DEGENERATION | ASSOCIATION | NEUROSCIENCES | Frontotemporal Dementia - genetics | Haplotypes | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Genotype | Male | Chromosomes, Human, Pair 9 | Pedigree | Alleles | Finland | Female | Polymorphism, Single Nucleotide | Microsatellite Repeats | Medical colleges | Neurosciences | Molecular genetics | Neurons | Genes | Oncology, Experimental | Amyotrophic lateral sclerosis | Research | Gene expression | Genetic research | Cytogenetics | Genetic aspects | Alzheimer's disease | Public health | Cancer
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7. Full Text Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
by Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases... 
WGS | GWAS | WES | KIF5A | ALS | axonal transport | cargo | MOTOR-NEURONS | TARGETED DISRUPTION | GENOTYPE IMPUTATION | DNA-DAMAGE | AXONAL-TRANSPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | KINESIN HEAVY-CHAIN | HEXANUCLEOTIDE REPEAT | NEUROSCIENCES | FAMILIAL ALS | Genetic research | Genes | Analysis | Genomics | Phenotypes | Disease | Neurodegenerative diseases | Pathogenesis | Homeostasis | Amyotrophic lateral sclerosis | Genomes | Risk factors | Consortia | Hereditary spastic paraplegia | Proteins | Paraplegia | Charcot-Marie-Tooth disease | Cytoskeleton | Mutation | Spastic paraplegia | Life Sciences | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
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8. Full Text Generation of GFAP::GFP astrocyte reporter lines from human adult fibroblast‐derived iPS cells using zinc‐finger nuclease technology
by Zhang, Ping‐Wu and Haidet‐Phillips, Amanda M and Pham, Jacqueline T and Lee, Youngjin and Huo, Yuqing and Tienari, Pentti J and Maragakis, Nicholas J and Sattler, Rita and Rothstein, Jeffrey D
Glia, ISSN 0894-1491, 01/2016, Volume 64, Issue 1, pp. 63 - 75
Astrocytes are instrumental to major brain functions, including metabolic support, extracellular ion regulation, the shaping of excitatory signaling events and... 
zinc finger nuclease | induced pluripotent stem cells | astrocyte | iPSC | GFAP | Astrocyte | Zinc finger nuclease | Induced pluripotent stem cells | IPSC | MOTOR-NEURONS | SPINAL-CORD | NEUROSCIENCES | PLURIPOTENT STEM-CELLS | GLUTAMATE TRANSPORTERS | MUTANT SOD1 | DIFFERENTIATION | ASTROGLIAL SUBTYPES | GLIA | EXPRESSION | DISEASE PROGRESSION | Dependovirus - genetics | Fibroblasts - physiology | Humans | Green Fluorescent Proteins - genetics | Glial Fibrillary Acidic Protein - metabolism | Cell Engineering - methods | Astrocytes - transplantation | Gray Matter - physiology | Spinal Cord - cytology | Cell Survival - physiology | Genes, Reporter | Green Fluorescent Proteins - metabolism