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Common and rare var...
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2021-12-06
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Springer Science and Business Media LLC,2021
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:148328499
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http://kipublications.ki.se/Default.aspx?queryparsed=id:148328499URI
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https://doi.org/10.1038/s41588-021-00973-1DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191609URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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van der Spek, RAA
(author)
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Bakker, MK
(author)
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van Vugt, JJFA
(author)
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Hop, PJ
(author)
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Zwamborn, RAJ
(author)
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de Klein, N
(author)
-
Westra, HJ
(author)
-
Bakker, OB
(author)
-
Deelen, P
(author)
-
Shireby, G
(author)
-
Hannon, E
(author)
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Andersen, Peter M.,1962-Umeå universitet,Neurovetenskaper(Swepub:umu)pean0001
(author)
-
Baird, D
(author)
-
Restuadi, R
(author)
-
Dolzhenko, E
(author)
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Dekker, AM
(author)
-
Gawor, K
(author)
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Westeneng, HJ
(author)
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Tazelaar, GHP
(author)
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van Eijk, KR
(author)
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Kooyman, M
(author)
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Byrne, RP
(author)
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Doherty, M
(author)
-
Heverin, M
(author)
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Al Khleifat, A
(author)
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Iacoangeli, A
(author)
-
Shatunov, A
(author)
-
Ticozzi, N
(author)
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Cooper-Knock, J
(author)
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Smith, BN
(author)
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Gromicho, M
(author)
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Chandran, S
(author)
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Pal, S
(author)
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Morrison, KE
(author)
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Shaw, PJ
(author)
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Hardy, J
(author)
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Orrell, RW
(author)
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Sendtner, M
(author)
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Meyer, T
(author)
-
Basak, N
(author)
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van der Kooi, AJ
(author)
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Ratti, A
(author)
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Fogh, I
(author)
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Gellera, C
(author)
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Lauria, G
(author)
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Corti, S
(author)
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Cereda, CKarolinska Institutet
(author)
-
Sproviero, D
(author)
-
D'Alfonso, S
(author)
-
Soraru, G
(author)
-
Siciliano, G
(author)
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Filosto, M
(author)
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Padovani, A
(author)
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Chio, A
(author)
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Calvo, A
(author)
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Moglia, C
(author)
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Brunetti, M
(author)
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Canosa, A
(author)
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Grassano, M
(author)
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Beghi, E
(author)
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Pupillo, E
(author)
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Logroscino, G
(author)
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Nefussy, B
(author)
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Osmanovic, A
(author)
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Nordin, AngelicaUmeå universitet,Neurovetenskaper(Swepub:umu)acaoln03
(author)
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Lerner, Y
(author)
-
Zabari, M
(author)
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Gotkine, M
(author)
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Baloh, RH
(author)
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Bell, S
(author)
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Vourc'h, P
(author)
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Corcia, P
(author)
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Couratier, P
(author)
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Millecamps, S
(author)
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Meininger, V
(author)
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Salachas, F
(author)
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Pardina, JMS
(author)
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Assialioui, A
(author)
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Rojas-Garcia, R
(author)
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Dion, PA
(author)
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Ross, JP
(author)
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Ludolph, AC
(author)
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Weishaupt, JH
(author)
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Brenner, D
(author)
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Freischmidt, A
(author)
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Bensimon, G
(author)
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Brice, A
(author)
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Durr, A
(author)
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Payan, CAM
(author)
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Saker-Delye, S
(author)
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Wood, NW
(author)
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Topp, S
(author)
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Rademakers, R
(author)
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Tittmann, L
(author)
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Lieb, W
(author)
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Franke, A
(author)
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Ripke, S
(author)
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Braun, A
(author)
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Kraft, J
(author)
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Whiteman, DC
(author)
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Olsen, CM
(author)
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Uitterlinden, AG
(author)
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Hofman, A
(author)
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Rietschel, M
(author)
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Cichon, S
(author)
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Nothen, MM
(author)
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Amouyel, P
(author)
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Comi, G
(author)
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Riva, N
(author)
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Lunetta, C
(author)
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Gerardi, F
(author)
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Cotelli, MS
(author)
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Rinaldi, F
(author)
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Chiveri, L
(author)
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Guaita, MC
(author)
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Perrone, P
(author)
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Ceroni, M
(author)
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Diamanti, L
(author)
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Ferrarese, C
(author)
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Tremolizzo, L
(author)
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Delodovici, ML
(author)
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Bono, G
(author)
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Manera, U
(author)
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Vasta, R
(author)
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Bombaci, A
(author)
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Casale, F
(author)
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Fuda, G
(author)
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Salamone, P
(author)
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Iazzolino, B
(author)
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Peotta, L
(author)
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Cugnasco, P
(author)
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De Marco, G
(author)
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Torrieri, MC
(author)
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Palumbo, F
(author)
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Gallone, S
(author)
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Barberis, M
(author)
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Sbaiz, L
(author)
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Gentile, S
(author)
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Mauro, A
(author)
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Mazzini, L
(author)
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De Marchi, F
(author)
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Corrado, L
(author)
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D'Alfonso, S
(author)
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Bertolotto, A
(author)
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Gionco, M
(author)
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Leotta, D
(author)
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Odddenino, E
(author)
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Imperiale, D
(author)
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Cavallo, R
(author)
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Pignatta, P
(author)
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De Mattei, M
(author)
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Geda, C
(author)
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Papurello, DM
(author)
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Gusmaroli, G
(author)
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Comi, C
(author)
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Labate, C
(author)
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Ruiz, L
(author)
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Ferrandi, D
(author)
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Rota, E
(author)
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Aguggia, M
(author)
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Di Vito, N
(author)
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Meineri, P
(author)
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Ghiglione, P
(author)
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Launaro, N
(author)
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Dotta, M
(author)
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Di Sapio, A
(author)
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Giardini, G
(author)
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Tiloca, C
(author)
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Peverelli, S
(author)
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Taroni, F
(author)
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Pensato, V
(author)
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Castellotti, B
(author)
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Comi, GP
(author)
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Del Bo, R
(author)
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Ceroni, M
(author)
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Gagliardi, S
(author)
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Corrado, L
(author)
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Mazzini, L
(author)
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Raggi, F
(author)
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Simoncini, C
(author)
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Lo Gerfo, A
(author)
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Inghilleri, M
(author)
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Ferlini, A
(author)
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Simone, IL
(author)
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Passarella, B
(author)
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Guerra, V
(author)
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Zoccolella, S
(author)
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Nozzoli, C
(author)
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Mundi, C
(author)
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Leone, M
(author)
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Zarrelli, M
(author)
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Tamma, F
(author)
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Valluzzi, F
(author)
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Calabrese, G
(author)
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Boero, G
(author)
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Rini, A
(author)
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Traynor, BJ
(author)
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Singleton, AB
(author)
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Neto, MM
(author)
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Cauchi, RJ
(author)
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Ophoff, RA
(author)
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Wiedau-Pazos, M
(author)
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Lomen-Hoerth, C
(author)
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van Deerlin, VM
(author)
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Grosskreutz, J
(author)
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Roediger, A
(author)
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Gaur, N
(author)
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Jork, A
(author)
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Barthel, T
(author)
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Theele, E
(author)
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Ilse, B
(author)
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Stubendorff, B
(author)
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Witte, OW
(author)
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Steinbach, R
(author)
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Hubner, CA
(author)
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Graff, CKarolinska Institutet
(author)
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Brylev, L
(author)
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Fominykh, V
(author)
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Demeshonok, V
(author)
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Ataulina, A
(author)
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Rogelj, B
(author)
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Koritnik, B
(author)
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Zidar, J
(author)
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Ravnik-Glavac, M
(author)
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Glavac, D
(author)
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Stevic, Z
(author)
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Drory, V
(author)
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Povedano, M
(author)
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Blair, IP
(author)
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Kiernan, MC
(author)
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Benyamin, B
(author)
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Henderson, RD
(author)
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Furlong, S
(author)
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Mathers, S
(author)
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McCombe, PA
(author)
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Needham, M
(author)
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Ngo, ST
(author)
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Nicholson, GA
(author)
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Pamphlett, R
(author)
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Rowe, DB
(author)
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Steyn, FJ
(author)
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Williams, KL
(author)
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Mather, KA
(author)
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Sachdev, PS
(author)
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Henders, AK
(author)
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Wallace, L
(author)
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de Carvalho, M
(author)
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Pinto, S
(author)
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Petri, S
(author)
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Weber, M
(author)
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Rouleau, GA
(author)
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Silani, V
(author)
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Curtis, CJ
(author)
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Breen, G
(author)
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Glass, JD
(author)
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Brown, RH
(author)
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Landers, JE
(author)
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Shaw, CE
(author)
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Andersen, PM
(author)
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Groen, EJN
(author)
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van Es, MA
(author)
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Pasterkamp, RJ
(author)
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Fan, DS
(author)
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Garton, FC
(author)
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McRae, AF
(author)
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Smith, GD
(author)
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Gaunt, TR
(author)
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Eberle, MA
(author)
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Mill, J
(author)
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McLaughlin, RL
(author)
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Hardiman, O
(author)
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Kenna, KP
(author)
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Wray, NR
(author)
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Tsai, EL
(author)
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Runz, H
(author)
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Franke, L
(author)
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Al-Chalabi, A
(author)
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Van Damme, P
(author)
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van den Berg, LH
(author)
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Veldink, JH
(author)
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Umeå universitetNeurovetenskaper
(creator_code:org_t)
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In:Nature genetics: Springer Science and Business Media LLC53:12, s. 1636-+1546-17181061-4036
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van Rheenen, W
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van der Spek, RA ...
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Bakker, MK
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van Vugt, JJFA
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Hop, PJ
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Zwamborn, RAJ
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de Klein, N
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Westra, HJ
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Bakker, OB
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Deelen, P
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Shireby, G
-
Hannon, E
-
Andersen, Peter ...
-
Baird, D
-
Restuadi, R
-
Dolzhenko, E
-
Dekker, AM
-
Gawor, K
-
Westeneng, HJ
-
Tazelaar, GHP
-
van Eijk, KR
-
Kooyman, M
-
Byrne, RP
-
Doherty, M
-
Heverin, M
-
Al Khleifat, A
-
Iacoangeli, A
-
Shatunov, A
-
Ticozzi, N
-
Cooper-Knock, J
-
Smith, BN
-
Gromicho, M
-
Chandran, S
-
Pal, S
-
Morrison, KE
-
Shaw, PJ
-
Hardy, J
-
Orrell, RW
-
Sendtner, M
-
Meyer, T
-
Basak, N
-
van der Kooi, AJ
-
Ratti, A
-
Fogh, I
-
Gellera, C
-
Lauria, G
-
Corti, S
-
Cereda, C
-
Sproviero, D
-
D'Alfonso, S
-
Soraru, G
-
Siciliano, G
-
Filosto, M
-
Padovani, A
-
Chio, A
-
Calvo, A
-
Moglia, C
-
Brunetti, M
-
Canosa, A
-
Grassano, M
-
Beghi, E
-
Pupillo, E
-
Logroscino, G
-
Nefussy, B
-
Osmanovic, A
-
Nordin, Angelica
-
Lerner, Y
-
Zabari, M
-
Gotkine, M
-
Baloh, RH
-
Bell, S
-
Vourc'h, P
-
Corcia, P
-
Couratier, P
-
Millecamps, S
-
Meininger, V
-
Salachas, F
-
Pardina, JMS
-
Assialioui, A
-
Rojas-Garcia, R
-
Dion, PA
-
Ross, JP
-
Ludolph, AC
-
Weishaupt, JH
-
Brenner, D
-
Freischmidt, A
-
Bensimon, G
-
Brice, A
-
Durr, A
-
Payan, CAM
-
Saker-Delye, S
-
Wood, NW
-
Topp, S
-
Rademakers, R
-
Tittmann, L
-
Lieb, W
-
Franke, A
-
Ripke, S
-
Braun, A
-
Kraft, J
-
Whiteman, DC
-
Olsen, CM
-
Uitterlinden, AG
-
Hofman, A
-
Rietschel, M
-
Cichon, S
-
Nothen, MM
-
Amouyel, P
-
Comi, G
-
Riva, N
-
Lunetta, C
-
Gerardi, F
-
Cotelli, MS
-
Rinaldi, F
-
Chiveri, L
-
Guaita, MC
-
Perrone, P
-
Ceroni, M
-
Diamanti, L
-
Ferrarese, C
-
Tremolizzo, L
-
Delodovici, ML
-
Bono, G
-
Manera, U
-
Vasta, R
-
Bombaci, A
-
Casale, F
-
Fuda, G
-
Salamone, P
-
Iazzolino, B
-
Peotta, L
-
Cugnasco, P
-
De Marco, G
-
Torrieri, MC
-
Palumbo, F
-
Gallone, S
-
Barberis, M
-
Sbaiz, L
-
Gentile, S
-
Mauro, A
-
Mazzini, L
-
De Marchi, F
-
Corrado, L
-
Bertolotto, A
-
Gionco, M
-
Leotta, D
-
Odddenino, E
-
Imperiale, D
-
Cavallo, R
-
Pignatta, P
-
De Mattei, M
-
Geda, C
-
Papurello, DM
-
Gusmaroli, G
-
Comi, C
-
Labate, C
-
Ruiz, L
-
Ferrandi, D
-
Rota, E
-
Aguggia, M
-
Di Vito, N
-
Meineri, P
-
Ghiglione, P
-
Launaro, N
-
Dotta, M
-
Di Sapio, A
-
Giardini, G
-
Tiloca, C
-
Peverelli, S
-
Taroni, F
-
Pensato, V
-
Castellotti, B
-
Comi, GP
-
Del Bo, R
-
Gagliardi, S
-
Raggi, F
-
Simoncini, C
-
Lo Gerfo, A
-
Inghilleri, M
-
Ferlini, A
-
Simone, IL
-
Passarella, B
-
Guerra, V
-
Zoccolella, S
-
Nozzoli, C
-
Mundi, C
-
Leone, M
-
Zarrelli, M
-
Tamma, F
-
Valluzzi, F
-
Calabrese, G
-
Boero, G
-
Rini, A
-
Traynor, BJ
-
Singleton, AB
-
Neto, MM
-
Cauchi, RJ
-
Ophoff, RA
-
Wiedau-Pazos, M
-
Lomen-Hoerth, C
-
van Deerlin, VM
-
Grosskreutz, J
-
Roediger, A
-
Gaur, N
-
Jork, A
-
Barthel, T
-
Theele, E
-
Ilse, B
-
Stubendorff, B
-
Witte, OW
-
Steinbach, R
-
Hubner, CA
-
Graff, C
-
Brylev, L
-
Fominykh, V
-
Demeshonok, V
-
Ataulina, A
-
Rogelj, B
-
Koritnik, B
-
Zidar, J
-
Ravnik-Glavac, M
-
Glavac, D
-
Stevic, Z
-
Drory, V
-
Povedano, M
-
Blair, IP
-
Kiernan, MC
-
Benyamin, B
-
Henderson, RD
-
Furlong, S
-
Mathers, S
-
McCombe, PA
-
Needham, M
-
Ngo, ST
-
Nicholson, GA
-
Pamphlett, R
-
Rowe, DB
-
Steyn, FJ
-
Williams, KL
-
Mather, KA
-
Sachdev, PS
-
Henders, AK
-
Wallace, L
-
de Carvalho, M
-
Pinto, S
-
Petri, S
-
Weber, M
-
Rouleau, GA
-
Silani, V
-
Curtis, CJ
-
Breen, G
-
Glass, JD
-
Brown, RH
-
Landers, JE
-
Shaw, CE
-
Andersen, PM
-
Groen, EJN
-
van Es, MA
-
Pasterkamp, RJ
-
Fan, DS
-
Garton, FC
-
McRae, AF
-
Smith, GD
-
Gaunt, TR
-
Eberle, MA
-
Mill, J
-
McLaughlin, RL
-
Hardiman, O
-
Kenna, KP
-
Wray, NR
-
Tsai, EL
-
Runz, H
-
Franke, L
-
Al-Chalabi, A
-
Van Damme, P
-
van den Berg, LH
-
Veldink, JH
-
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- MEDICAL AND HEALTH SCIENCES
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Nature genetics
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