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1. Full Text CSF neurofilament proteins as diagnostic and prognostic biomarkers for amyotrophic lateral sclerosis
by Rossi, Daniela and Volanti, Paolo and Brambilla, Liliana and Colletti, Tiziana and Spataro, Rossella and La Bella, Vincenzo
Journal of neurology, ISSN 0340-5354, 3/2018, Volume 265, Issue 3, pp. 510 - 521
Neurology | Neurosciences | NF-L | Medicine & Public Health | Disease progression | CSF | ALS | Neurofilaments | pNF-H | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cytoplasmic filaments | Analysis | Amyotrophic lateral sclerosis | Development and progression | Diagnosis | Research | Biological markers | Neurological diseases | Disease | Biomarkers | Cytotoxicity | Lymphocytes T | Cerebrospinal fluid | Enzyme-linked immunosorbent assay | Inflammatory diseases | Tumors | Index Medicus
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2. Full Text Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
by Johnson, Janel O and Pioro, Erik P and Boehringer, Ashley and Chia, Ruth and Feit, Howard and Renton, Alan E and Pliner, Hannah A and Abramzon, Yevgeniya and Marangi, Giuseppe and Winborn, Brett J and Gibbs, J. Raphael and Nalls, Michael A and Morgan, Sarah and Shoai, Maryam and Hardy, John and Pittman, Alan and Orrell, Richard W and Malaspina, Andrea and Sidle, Katie C and Fratta, Pietro and Harms, Matthew B and Baloh, Robert H and Pestronk, Alan and Weihl, Conrad C and Rogaeva, Ekaterina and Zinman, Lorne and Drory, Vivian E and Borghero, Giuseppe and Mora, Gabriele and Calvo, Andrea and Rothstein, Jeffrey D and Drepper, Carsten and Sendtner, Michael and Singleton, Andrew B and Taylor, J Paul and Cookson, Mark R and Restagno, Gabriella and Sabatelli, Mario and Bowser, Robert and Chio`, Adriano and Traynor, Bryan J and Moglia, Cristina and Cammarosano, Stefania and Canosa, Antonio and Gallo, Sara and Brunetti, Maura and Ossola, Irene and Marinou, Kalliopi and Papetti, Laura and Pisano, Fabrizio and Pinter, Giuseppe Lauria and Conte, Amelia and Luigetti, Marco and Zollino, Marcella and Lattante, Serena and Marangi, Giuseppe and la Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Battistini, Stefania and Ricci, Claudia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and Salvi, Fabrizio and Bartolomei, Ilaria and Mandrioli, Jessica and Sola, Patrizia and Lunetta, Christian and Penco, Silvana and Monsurrò, Maria Rosaria and Conforti, Francesca Luisa and Tedeschi, Gioacchino and Gambardella, Antonio and Quattrone, Aldo and Volanti, Paolo and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Marrosu, Francesco and Marrosu, Maria Giovanna and Murru, Maria Rita and Pugliatti, Maura and Parish, Leslie D and Sotgiu, Alessandra and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Simone, Isabella and Logroscino, Giancarlo and Pirisi, Angelo and ITALSGEN
Nature neuroscience, ISSN 1097-6256, 2014, Volume 17, Issue 5, pp. 664 - 666
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | RNA-Binding Proteins - genetics | Genetic Predisposition to Disease - genetics | Spinal Cord - metabolism | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Computational Biology | Nuclear Matrix-Associated Proteins - metabolism | Family Health | Genotype | Male | Muscle, Skeletal - metabolism | Mutation - genetics | DNA-Binding Proteins - metabolism | Amyotrophic Lateral Sclerosis - pathology | Neurologic Examination | Nuclear Matrix-Associated Proteins - genetics | DNA Mutational Analysis | Spinal Cord - pathology | Aged, 80 and over | Female | Aged | Muscle, Skeletal - pathology | RNA-Binding Proteins - metabolism | Gene mutations | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Research | Neurological research | Neurophysiology | Index Medicus
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3. Full Text Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
by Nicolas, Aude and Kenna, Kevin P and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Kenna, Brendan J and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A 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 Kenna, Aoife and Logullo, Francesco O and Simone, Isabella 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 Mora, Gabriele 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 Marangi, Giuseppe 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 Benigni, Michele and Cau, Tea B and Loi, Daniela and Calvo, Andrea and Moglia, Cristina and Brunetti, Maura and Barberis, Marco and ... and Project MinE ALS Sequencing Consortium and ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and NYGC ALS Consortium and ITALSGEN Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and SLAGEN Consortium and French ALS Consortium and Genomic Translation ALS Care GTAC and Clinical Res ALS Related Disorders and Project MinE ALS Sequencing Consor and Answer ALS Fdn
Neuron (Cambridge, Mass.), ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
WGS | GWAS | WES | KIF5A | ALS | axonal transport | cargo | no | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amino Acid Sequence | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Amyotrophic Lateral Sclerosis - diagnosis | Male | Young Adult | Aged, 80 and over | Kinesin - genetics | Adult | Female | Aged | Genome-Wide Association Study - methods | Amyotrophic Lateral Sclerosis - epidemiology | Cohort Studies | Loss of Function Mutation - genetics | 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 | Index Medicus | Life Sciences
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4. 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 The Chromosome 9-ALS/FTD Consortium and The ITALSGEN Consortium and The French research network on FTLD/FTLD/ALS 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
Lancet neurology, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | 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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5. Full Text Plasma cortisol level in amyotrophic lateral sclerosis
by Spataro, Rossella and Volanti, Paolo and Vitale, Francesco and Meli, Francesco and Colletti, Tiziana and Di Natale, Antonino and La Bella, Vincenzo
Journal of the neurological sciences, ISSN 0022-510X, 2015, Volume 358, Issue 1, pp. 282 - 286
Neurology | ALS | Biomarker | Cortisol | ALSFRS-R | Disease progression | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Female | Male | Aged | Biomarkers - blood | Amyotrophic Lateral Sclerosis - blood | Circadian Rhythm | Hydrocortisone - blood | Disease Progression | Development and progression | Amyotrophic lateral sclerosis | Corticosteroids | Mental illness | Index Medicus
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6. Full Text Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
by Chiò, Adriano and Borghero, Giuseppe and Restagno, Gabriella and Mora, Gabriele and Drepper, Carsten and Traynor, Bryan J and Sendtner, Michael and Brunetti, Maura and Ossola, Irene and Calvo, Andrea and Pugliatti, Maura and Sotgiu, Maria Alessandra and Murru, Maria Rita and Marrosu, Maria Giovanna and Marrosu, Francesco and Marinou, Kalliopi and Mandrioli, Jessica and Sola, Patrizia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and La Bella, Vincenzo and Spataro, Rossella and Conte, Amelia and Monsurrò, Maria Rosaria and Tedeschi, Gioacchino and Pisano, Fabrizio and Bartolomei, Ilaria and Salvi, Fabrizio and Lauria Pinter, Giuseppe and Simone, Isabella and Logroscino, Giancarlo and Gambardella, Antonio and Quattrone, Aldo and Lunetta, Christian and Volanti, Paolo and Zollino, Marcella and Penco, Silvana and Battistini, Stefania and Renton, Alan E and Majounie, Elisa and Abramzon, Yevgeniya and Conforti, Francesca Luisa and Giannini, Fabio and Corbo, Massimo and Sabatelli, Mario and Moglia, Cristina and Cammarosano, Stefania and Fuda, Giuseppe and Canosa, Antonio and Gallo, Sara and Papetti, Laura and Luigetti, Marco and Lattante, Serena and Marangi, Giuseppe and Colletti, Tiziana and Ricci, Claudia and Origone, Paola and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Parish, Leslie D and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Izzo, Francesco and Laiola, Anna and Trojsi, Francesca and ITALSGEN Consortium and ITALSGEN consortium and the ITALSGEN consortium
Brain (London, England : 1878), ISSN 0006-8950, 2012, Volume 135, Issue 3, pp. 784 - 793
familial ALS, C9ORF72 gene | amyotrophic lateral sclerosis | phenotype-genotype correlation | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis | Medical sciences | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Parents | Male | Sex Characteristics | Mutation - genetics | DNA - genetics | Proteins - genetics | DNA Repeat Expansion | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Pedigree | Age of Onset | Survival Analysis | Adult | Female | Italy | Aged | C9orf72 Protein | Cohort Studies | Index Medicus | Abridged Index Medicus | phenotype–genotype correlation | Original
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7. Full Text Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
by Bandres‐Ciga, Sara and Noyce, Alastair J and Hemani, Gibran and Nicolas, Aude and Calvo, Andrea and Mora, Gabriele and Arosio, Alessandro and Barberis, Marco and Bartolomei, Ilaria and Battistini, Stefania and Benigni, Michele and Borghero, Giuseppe and Brunetti, Maura and Calvo, Andrea and Cammarosano, Stefania and Cannas, Antonino and Canosa, Antonio and Capasso, Margherita and Caponnetto, Claudia and Caredda, Carla and Carrera, Paola and Casale, Federico and Cavallaro, Sebastiano and Chiò, Adriano and Colletti, Tiziana and Conforti, Francesca L and Conte, Amelia and Corrado, Lucia and Costantino, Emanuela and D'Alfonso, Sandra and Fasano, Antonio and Femiano, Cinzia and Ferrarese, Carlo and Fini, Nicola and Floris, Gianluca and Fuda, Giuseppe and Giannini, Fabio and Grassano, Maurizio and Ilardi, Antonio and La Bella, Vincenzo and Lattante, Serena and Logroscino, Giancarlo and Logullo, Francesco O and Loi, Daniela and Lunetta, Christian and Mancardi, Gianluigi and Mandich, Paola and Mandrioli, Jessica and Manera, Umberto and Marangi, Giuseppe and Marinou, Kalliopi and Marrali, Giuseppe and Marrosu, Maria Giovanna and Mazzini, Letizia and Melis, Maurizio and Messina, Sonia and Moglia, Cristina and Monsurro, Maria Rosaria and Mora, Gabriele and Mosca, Lorena and Occhineri, Patrizia and Origone, Paola and Pani, Carla and Penco, Silvana and Petrucci, Antonio and Piccirillo, Giovanni and Pirisi, Angelo and Pisano, Fabrizio and Pugliatti, Maura and Restagno, Gabriella and Ricci, Claudia and Rita Murru, Maria and Riva, Nilo and Sabatelli, Mario and Salvi, Fabrizio and Santarelli, Marialuisa and Sideri, Riccardo and Simone, Isabella and Spataro, Rossella and Tanel, Raffaella and Tedeschi, Gioacchino and Tranquilli, Stefania and Tremolizzo, Lucio and Trojsi, Francesca and Volanti, Paolo and Zollino, Marcella and Abramzon, Yevgeniya and Arepalli, Sampath and Baloh, Robert H and Bowser, Robert and Brady, Christopher B and Brice, Alexis and Broach, James and Campbell, Roy H and Camu, William and Chia, Ruth and Chiò, Adriano and Cooper‐Knock, John and Cusi, Daniele and Ding, Jinhui and ... and Int ALS Genomics Consortium and ITALSGEN Consortium and International ALS Genomics Consortium and The ITALSGEN Consortium and The International ALS Genomics Consortium
Annals of neurology, ISSN 0364-5134, 04/2019, Volume 85, Issue 4, pp. 470 - 481
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Mendelian Randomization Analysis - methods | Multifactorial Inheritance - genetics | Genetic Predisposition to Disease - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Amyotrophic Lateral Sclerosis - diagnosis | Exercise - physiology | Genetic Predisposition to Disease - epidemiology | Genome-Wide Association Study - methods | Amyotrophic Lateral Sclerosis - epidemiology | Correlation | Profiling | Physical activity | Hyperlipidemia | Linkage disequilibrium | Cognitive ability | Amyotrophic lateral sclerosis | Genomes | Regression analysis | Risk analysis | Cholesterol | Risk factors | Educational attainment | Randomization | Education | Genetic analysis | Genetic factors | Risk management | Light levels |