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amyotrophic lateral sclerosis (12) 12
humans (11) 11
index medicus (11) 11
als (9) 9
disease (7) 7
genomes (7) 7
amyotrophic lateral sclerosis - genetics (6) 6
hexanucleotide repeat (6) 6
mutations (6) 6
neurosciences (6) 6
analysis (5) 5
basic medicine (5) 5
c9orf72 (5) 5
female (5) 5
genetic predisposition to disease (5) 5
genome-wide association study (5) 5
male (5) 5
medical and health sciences (5) 5
medicin och hälsovetenskap (5) 5
medicinska och farmaceutiska grundvetenskaper (5) 5
population (5) 5
sclerosis (5) 5
alleles (4) 4
case-control studies (4) 4
genetic aspects (4) 4
genetics & heredity (4) 4
medical genetics (4) 4
medicinsk genetik (4) 4
polymorphism, single nucleotide (4) 4
aged (3) 3
amyotrophic lateral sclerosis - epidemiology (3) 3
clinical neurology (3) 3
cohort studies (3) 3
consortia (3) 3
data processing (3) 3
diagnosis (3) 3
dna-damage (3) 3
frontotemporal dementia (3) 3
genes (3) 3
genetic variation (3) 3
haplotypes (3) 3
health aspects (3) 3
metaanalysis (3) 3
middle aged (3) 3
mutation (3) 3
risk factors (3) 3
studies (3) 3
variants (3) 3
age (2) 2
article (2) 2
association (2) 2
clinical trials (2) 2
expansions (2) 2
familial als (2) 2
family (2) 2
genetic association studies (2) 2
genetic diversity (2) 2
genetic research (2) 2
genetic techniques (2) 2
genome-wide association (2) 2
genomics (2) 2
genotype (2) 2
geriatrics & gerontology (2) 2
hereditary spastic paraplegia (2) 2
internet (2) 2
life sciences (2) 2
medical colleges (2) 2
motor neuron disease (2) 2
multidisciplinary sciences (2) 2
mutation - genetics (2) 2
netherlands - epidemiology (2) 2
neurodegenerative diseases (2) 2
neurology (2) 2
nipa1 (2) 2
patients (2) 2
phenotypes (2) 2
proteins (2) 2
proteins - genetics (2) 2
reference values (2) 2
repeat expansions (2) 2
reproducibility of results (2) 2
survival analysis (2) 2
whole genome sequencing (2) 2
06 biological sciences (1) 1
11 medical and health sciences (1) 1
accuracy (1) 1
adolescent (1) 1
adult (1) 1
age factors (1) 1
aged, 80 and over (1) 1
alpha-particles (1) 1
als; gwas; kif5a; wes; wgs; axonal transport; cargo (1) 1
alzheimers disease (1) 1
amino acid substitution (1) 1
amyotrophic lateral sclerosis - classification (1) 1
amyotrophic lateral sclerosis - diagnosis (1) 1
amyotrophic lateral sclerosis - drug therapy (1) 1
amyotrophic lateral sclerosis - metabolism (1) 1
amyotrophic lateral sclerosis - mortality (1) 1
amyotrophic lateral sclerosis - pathology (1) 1
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by McCarthy, Shane and Das, Sayantan and Kretzschmar, Warren and Delaneau, Olivier and Wood, Anew R and Teumer, Alexander and Kang, Hyun Min and Fuchsberger, Christian and Danecek, Petr and Sharp, Kevin and Luo, Yang and Sidorel, Carlo and Kwong, Alan and Timpson, Nicholas and Koskinen, Seppo and Vrieze, Scott and Scott, Laura J and Zhang, He and Mahajan, Anubha and Veldink, Jan and Peters, Ulrike and Pato, Carlos and van Duijn, Cornelia M and Gillies, Christopher E and Gandin, Ilaria and Mezzavilla, Massimo and Gilly, Arthur and Cocca, Massimiliano and Traglia, Michela and Angius, Anea and Barrett, Jeffrey C and Boomsma, Dorrett and Branham, Kari and Breen, Gerome and Brummett, Chad M and Busonero, Fabio and Campbell, Harry and Chan, Anew and Che, Sai and Chew, Emily and Collins, Francis S and Corbin, Laura J and Smith, George Davey and Dedoussis, George and Dorr, Marcus and Farmaki, Aliki-Eleni and Ferrucci, Luigi and Forer, Lukas and Fraser, Ross M and Gabriel, Stacey and Levy, Shawn and Groop, Leif and Harrison, Tabitha and Hattersley, Anew and Holmen, Oddgeir L and Hveem, Kristian and Kretzler, Matthias and Lee, James C and McGue, Matt and Meitinger, Thomas and Melzer, David and Min, Josine L and Mohlke, Karen L and Vincent, John B and Nauck, Matthias and Nickerson, Deborah and Palotie, Aarno and Pato, Michele and Pirastu, Nicola and McInnis, Melvin and Richards, J. Brent and Sala, Cinzia and Salomaa, Veikko and Schlessinger, David and Schoenherr, Sebastian and Slagboom, P. Eline and Small, Kerrin and Spector, Timothy and Stambolian, Dwight and Tuke, Marcus and Tuomilehto, Jaakko and van den Berg, Leonard H and Van Rheenen, Wouter and Volker, Uwe and Wijmenga, Cisca and Toniolo, Daniela and Zeggini, Eleftheria and Gasparini, Paolo and Sampson, Matthew G and Wilson, James F and Frayling, Timothy and de Bakker, Paul I. W and Swertz, Morris A and McCarroll, Steven and Kooperberg, Charles and Dekker, Annelot and Altshuler, David and Willer, Cristen and Iacono, William and Ripatti, Samuli and ... and Haplotype Reference Consortium and the Haplotype Reference Consortium and Genomik, diabetes och endokrinologi and Lund University and Genomics, Diabetes and Endocrinology and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
Nature Genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1279 - 1283
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SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 5931 - 8
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in similar to 350 individuals. Genetic association studies have... 
GENETIC-VARIATION | PLINK | MULTIDISCIPLINARY SCIENCES | INJURY | POWER | ANALYSES IDENTIFY | LINKAGE | HEXANUCLEOTIDE REPEAT | ASSOCIATION | C9ORF72 | STRATEGIES | Nek1 protein | Statistical analysis | Genotyping | Neurodegenerative diseases | Amyotrophic lateral sclerosis | Heritability | Genomes | Genetic diversity | Variation | Sclerosis
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by van Rheenen, Wouter and Shatunov, Aleksey and Dekker, Annelot M and McLaughlin, Russell L and Diekstra, Frank P and Pulit, Sara L and van der Spek, Rick A. A and Võsa, Urmo and de Jong, Simone and Robinson, Matthew R and Yang, Jian and Fogh, Isabella and van Doormaal, Perry Tc and Tazelaar, Gijs H. P and Koppers, Max and Blokhuis, Anna M and Sproviero, William and Jones, Ashley R and Kenna, Kevin P and van Eijk, Kristel R and Harschnitz, Oliver and Schellevis, Raymond D and Brands, William J and Medic, Jelena and Menelaou, Anoniki and Vajda, Alice and Ticozzi, Nicola and Lin, Kuang and Rogelj, Boris and Vrabec, Katarina and Ravnik-Glavač, Metka and Koritnik, Blaž and Zidar, Janez and Leonardis, Lea and Grošelj, Leja Dolenc and Millecamps, Stéphanie and Salachas, François and Meininger, Vincent and de Carvalho, Mamede and Pinto, Susana and Mora, Jesus S and Rojas-García, Ricardo and Polak, Meraida and Chanan, Siddharthan and Colville, Shuna and Swingler, Robert and Morrison, Karen E and Shaw, Pamela J and Hardy, John and Orrell, Richard W and Pittman, Alan and Sidle, Katie and Fratta, Pietro and Malaspina, Anea and Topp, Simon and Petri, Susanne and Abdulla, Susanne and pper, Carsten and Sendtner, Michael and Meyer, Thomas and Ophoff, Roel A and Staats, Kim A and Wiedau-Pazos, Martina and Lomen-Hoerth, Catherine and van Deerlin, Vivianna M and Trojanowski, John Q and Elman, Lauren and McCluskey, Leo and Basak, A. Nazli and Tunca, Ceren and Hamzeiy, Hamid and Parman, Yesim and Meitinger, Thomas and Lichtner, Peter and Radivojkov-Blagojevic, Milena and Anes, Christian R and Maurel, Cindy and Bensimon, Gilbert and Landwehrmeyer, Bernhard and Brice, Alexis and Payan, Christine A. M and Saker-Delye, Safaa and Dürr, Alexana and Wood, Nicholas W and Tittmann, Lukas and Lieb, Wolfgang and Franke, Ane and Rietschel, Marcella and Cichon, Sven and Nöthen, Markus M and Amouyel, Philippe and Tzourio, Christophe and Dartigues, Jean-François and Uitterlinden, Ane G and Rivadeneira, Fernando and Estrada, Karol and Hofman, Albert and Curtis, Charles and Blauw, Hylke M and van der Kooi, Anneke J and ... and PARALS Registry and FALS Sequencing Consortium and SLALOM Grp and SLAGEN Consortium and NNIPPS Study Grp and SLAP Registry and SLALOM Group and NNIPPS Study Group and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk neurovetenskap and Umeå universitet
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 9, pp. 1043 - 1048
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by Kenna, Kevin P and van Doormaal, Perry T. C and Dekker, Annelot M and Ticozzi, Nicola and Kenna, Brendan J and Diekstra, Frank P and van Rheenen, Wouter and van Eijk, Kristel R and Jones, Ashley R and Keagle, Pamela and Shatunov, Aleksey and Sproviero, William and Smith, Bradley N and van Es, Michael A and Topp, Simon D and Kenna, Aoife and Miller, Jack W and Fallini, Claudia and Tiloca, Cinzia and McLaughlin, Russell L and Vance, Caroline and Troakes, Claire and Colombrita, Claudia and Mora, Gabriele and Calvo, Anea and Verde, Federico and Al-Sarraj, Safa and King, Anew and Calini, Daniela and de Belleroche, Jacqueline and Baas, Frank and van der Kooi, Anneke J and de Visser, Marianne and ten Asbroek, Anneloor L. M. A and Sapp, Peter C and McKenna-Yasek, Diane and Polak, Meraida and Asress, Seneshaw and Muñoz-Blanco, José Luis and Strom, Tim M and Meitinger, Thomas and Morrison, Karen E and Lauria, Giuseppe and Williams, Kelly L and Leigh, P. Nigel and Nicholson, Garth A and Blair, Ian P and Leblond, Claire S and Dion, Patrick A and Rouleau, Guy A and Pall, Hardev and Shaw, Pamela J and Turner, Martin R and Talbot, Kevin and Taroni, Franco and Boylan, Kevin B and van Blitterswijk, Marka and Rademakers, Rosa and Esteban-Pérez, Jesús and García-Redondo, Alberto and van Damme, Phillip and Robberecht, Wim and Chio, Aiano and Gellera, Cinzia and pper, Carsten and Sendtner, Michael and Ratti, Antonia and Glass, Jonathan D and Mora, Jesús S and Basak, Nazli A and Hardiman, Orla and Ludolph, Albert C and Andersen, Peter M and Weishaupt, Jochen H and Brown, Robert H and Al-Chalabi, Ammar and Silani, Vincenzo and Shaw, Christopher E and van den Berg, Leonard H and Veldink, Jan H and Landers, John E and D'alfonso, Sana and Mazzini, Letizia and Comi, Giacomo P and del Bo, Roberto and Ceroni, Mauro and Gagliardi, Stella and Querin, Giorgia and Bertolin, Cinzia and Pensato, Viviana and Castellotti, Barbara and Corti, Stefania and Cereda, Cristina and Corrado, Lucia and Sorarù, Gianni and SLAGEN Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk neurovetenskap and Umeå universitet
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 9, pp. 1037 - 1042
Journal Article
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 Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
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The Lancet Neurology, ISSN 1474-4422, 05/2018, Volume 17, Issue 5, pp. 423 - 433
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European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1537 - 1546
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