دورية أكاديمية

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

التفاصيل البيبلوغرافية
العنوان: Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
المؤلفون: Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S, Holmans P, Jones L, Tabrizi SJ, Coleman A, Santos RD, Decolongon J, Sturrock A, Bardinet E, Ret CJ, Justo D, Lehericy S, Marelli C, Nigaud K, Valabrègue R, van den Bogaard S, Dumas EM, van der Grond J, t'Hart EP, Jurgens C, Witjes-Ane MN, Arran N, Callaghan J, Stopford C, Frost C, Jones R, Hobbs N, Lahiri N, Ordidge R, Owen G, Pepple T, Read J, Say M, Wild E, Patel A, Fox NC, Gibbard C, Malone I, Crawford H, Whitehead D, Keenan S, Cash DM, Berna C, Bechtel N, Bohlen S, Man AH, Kraus P, Axelson E, Wang C, Acharya T, Lee S, Monaco W, Campbell C, Queller S, Whitlock K, Campbell M, Frajman E, Milchman C, O'Regan A, Labuschagne I, Stout J, Landwehrmeyer B, Craufurd D, Scahill R, Hicks S, Kennard C, Johnson H, Tobin A, Rosas HD, Reilmann R, Borowsky B, Pourchot C, Andrews SC, Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli R, Burgunder JM, Dunnett S, Ferreira J, Handley O, Heiberg A, Illmann T, Landwehrmeyer GB, Levey J, Ramos-Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Roos RAC, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen-Dumoulin C, Uhrova T, Wahlström J, Zaremba J, Baake V, Barth K, Garde MB, Betz S, Bos R, Come A, Guedes LC, Ecker D, Finisterra AM, Fullam R, Gilling M, Gustafsson L, Handley OJ, Hvalstedt C, Held C, Koppers K, Lamanna C, Laurà M, Descals AM, Martinez-Horta S, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Orth M, Padieu H, Paterski L, Peppa N, Di Renzo M, Rialland A, Røren N, Šašinková P, Timewell E, Townhill J, Cubillo PT, da Silva WV, van Walsem MR, Whalstedt C, Witjes-Ané MN, Witkowski G, Wright A, Zielonka D, Zielonka E, Zinzi P, Bonelli RM, Lilek S, Hecht K, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Müller N, Otti D, Painold A, Reisinger K, Scheibl M, Schöggl H, Ullah J, Braunwarth EM, Brugger F, Buratti L, Hametner EM, Hepperger C, Holas C, Hotter A, Hussl A, Müller C, Poewe W, Seppi K, Sprenger F, Wenning G, Boogaerts A, Calmeyn G, Delvaux I, Liessens D, Somers N, Dupuit M, Minet C, van Paemel D, Ribaï P, van Reijen D, Klempír J, Majerová V, Roth J, Stárková I, Hjermind LE, Jacobsen O, Nielsen JE, Larsen IU, Vinther-Jensen T, Hiivola H, Hyppönen H, Martikainen K, Tuuha K, Allain P, Bonneau D, Bost M, Gohier B, Guérid MA, Olivier A, Prundean A, Scherer-Gagou C, Verny C, Babiloni B, Debruxelles S, Duché C, Goizet C, Jameau L, Lafoucrière D, Spampinato U, Barthélémy R, De Bruycker C, Carette MCA, Defebvre EDL, Delliaux M, Delval A, Destee A, Dujardin K, Lemaire MH, Manouvrier S, Peter M, Plomhouse L, Sablonnière B, Simonin C, Thibault-Tanchou S, Vuillaume I, Bellonet M, Berrissoul H, Blin S, Courtin F, Duru C, Fasquel V, Godefroy O, Krystkowiak P, Mantaux B, Roussel M, Wannepain S, Azulay JP, Delfini M, Eusebio A, Fluchere F, Mundler L, Anheim M, Julié C, Boukbiza OL, Longato N, Rudolf G, Tranchant C, Zimmermann MA, Kosinski CM, Milkereit E, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüß H, Spruth EJ, Ellrichmann G, Herrmann L, Hoffmann R, Kaminski B, Kotz P, Prehn C, Saft C, Lange H, Maiwald R, Löhle M, Maass A, Schmidt S, Bosredon C, Storch A, Wolz A, Wolz M, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Heinicke W, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Dressler D, Gorzolla H, Schrader C, Tacik P, Ribbat M, Longinus B, Bürk K, Möller JC, Rissling I, Mühlau M, Peinemann A, Städtler M, Weindl A, Winkelmann J, Ziegler C, Beckmann H, Hölzner E, Rohm S, Rumpf S, Schepers S, Weber N, Dose M, Leythäuser G, Marquard R, Raab T, Wiedemann A, Buck A, Connemann J, Geitner C, Kesse A, Lang C, Lezius F, Nepper S, Niess A, Schneider A, Schwenk D, Süßmuth S, Trautmann S, Weydt P, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, Capellari S, Cortelli P, Galassi R, Rizzo G, Poda R, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, di Poggio MB, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Castaldo A, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Massarelli M, Peluso S, Roca A, Russo CV, Salvatore E, Sorrentino P, Amico E, Favellato M, Griguoli A, Mazzante I, Petrollini M, Squitieri F, D'Alessio B, Esposito C, Bentivoglio R, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Piano C, Romano S, Soleti F, Spadaro M, van Hout MSE, Verhoeven ME, van Vugt JPP, de Weert AM, Bolwijn JJW, Dekker M, Kremer B, Leenders KL, van Oostrom JCH, van den Bogaard SJA, 't Hart EP, Verstappen CCP, Aaserud O, C JF, Wehus R, Bjørgo K, Fannemel M, Gørvell PF, Lorentzen E, Retterstøl L, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Klodowska-Duda G, Opala G, Stompel D, Banaszkiewicz K, Bocwinska D, Bojakowska-Jaremek K, Dec M, Krawczyk M, Rudzinska M, Szczygiel E, Szczudlik A, Wasielewska A, Wójcik M, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Samara H, Sempolowicz J, Gogol A, Janik P, Kwiecinski H, Jamrozik Z, Antczak J, Jachinska K, Krysa W, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stepniak I, Sulek A, Zdzienicka E, Zieora-Jakutowicz K, Ferreira JJ, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Herrera CD, Garcia PM, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Robert MF, Viladrich CM, Idiago JMR, Riballo AV, Cubo E, Polo CG, Mariscal N, Rivadeneyra PJ, Barrero F, Morales B, Fenollar M, García RG, Ortega P, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JLL, Frech FA, Ruíz PJG, Martínez-Descals A, Guerrero R, Artiga MJS, Sánchez V, Perea MFN, Fortuna L, Manzanares S, Reinante G, Torres MMA, Moreau LV, González González S, Guisasola LM, Salvador C, Martín ESS, Ramirez IL, Gorospe A, Lopera MR, Arques PN, Rodríguez MJT, Pastor BV, Gaston I, Martinez-Jaurrieta MD, Moreno JMG, Lucena CM, Damas F, Cortegana HEP, Peña JC, Redondo L, Carrillo F, Teresa Cáceres M, Mir P, Suarez MJL, Vargas-González L, Bosca ME, Brugada FC, Burguera JA, Campos A, Vilaplana GCP, Berglund P, Constantinescu R, Fredlund G, Høsterey-Ugander U, Linnsand P, Neleborn-Lingefjärd L, Wentzel M, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Stebler Y, Kaelin A, Romero I, Schüpbach M, Weber Zaugg S, Hauer M, Gonzenbach R, Jung HH, Mihaylova V, Petersen J, Jack R, Matheson K, Miedzybrodzka Z, Rae D, Simpson SA, Summers F, Ure A, Vaughan V, Akhtar S, Crooks J, Curtis A, de Souza J, Piedad J, Rickards H, Wright J, Coulthard E, Gethin L, Hayward B, Sieradzan K, Armstrong M, Barker RA, O'Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Swain R, Guzman NV, Busse M, Butcher C, Clenaghan C, Hunt S, Jones U, Khalil H, Owen M, Price K, Rosser A, Edwards M, Ho C, Hughes T, McGill M, Pearson P, Porteous M, Smith P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Chu C, Fletcher A, Gallantrae D, Hamer S, Harding A, Klöppel S, Kraus A, Laver F, Lewis M, Longthorpe M, Markova I, Raman A, Robertson N, Silva M, Thomson A, Wild S, Yardumian P, Evans C, Gallentrae D, Hobson E, Jamieson S, Musgrave H, Rowett L, Toscano J, Bourne C, Clapton J, Clayton C, Dipple H, Freire-Patino D, Grant J, Gross D, Hallam C, Middleton J, Murch A, Thompson C, Alusi S, Davies R, Foy K, Gerrans E, Pate L, Andrews T, Dougherty A, Golding C, Kavalier F, Laing H, Lashwood A, Robertson D, Ruddy D, Santhouse A, Whaite A, Bruno S, Doherty K, Haider S, Hensman D, Novak M, Rosser E, Taylor R, Warner T, Bek J, Hare M, Howard L, Huson S, Johnson L, Jones M, Murphy H, Oughton E, Partington-Jones L, Rogers D, Sollom A, Snowden J, Thompson J, Trender-Gerhard I, Verstraelen N, Westmoreland L, Armstrong R, Dixon K, Nemeth AH, Siuda G, Valentine R, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O'Donovan K, Taylor C, Tidswell K, Quarrell O, Burgunder JM.
المساهمون: Moss, Djh, Pardiñas, Af, Langbehn, D, Lo, K, Leavitt, Br, Roos, R, Durr, A, Mead, S, Holmans, P, Jones, L, Tabrizi, Sj, Coleman, A, Santos, Rd, Decolongon, J, Sturrock, A, Bardinet, E, Ret, Cj, Justo, D, Lehericy, S, Marelli, C, Nigaud, K, Valabrègue, R, van den Bogaard, S, Dumas, Em, van der Grond, J, T'Hart, Ep, Jurgens, C, Witjes-Ane, Mn, Arran, N, Callaghan, J, Stopford, C, Frost, C, Jones, R, Hobbs, N, Lahiri, N, Ordidge, R, Owen, G, Pepple, T, Read, J, Say, M, Wild, E, Patel, A, Fox, Nc, Gibbard, C, Malone, I, Crawford, H, Whitehead, D, Keenan, S, Cash, Dm, Berna, C, Bechtel, N, Bohlen, S, Man, Ah, Kraus, P, Axelson, E, Wang, C, Acharya, T, Lee, S, Monaco, W, Campbell, C, Queller, S, Whitlock, K, Campbell, M, Frajman, E, Milchman, C, O'Regan, A, Labuschagne, I, Stout, J, Landwehrmeyer, B, Craufurd, D, Scahill, R, Hicks, S, Kennard, C, Johnson, H, Tobin, A, Rosas, Hd, Reilmann, R, Borowsky, B, Pourchot, C, Andrews, Sc, Bachoud-Lévi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, S, Ferreira, J, Handley, O, Heiberg, A, Illmann, T, Landwehrmeyer, Gb, Levey, J, Ramos-Arroyo, Ma, Nielsen, J, Koivisto, Sp, Päivärinta, M, Roos, Rac, Sebastián, Ar, Tabrizi, S
سنة النشر: 2017
المجموعة: Università degli Studi di Genova: CINECA IRIS
مصطلحات موضوعية: Adult, DNA-Binding Protein, Genome-Wide Association Study, Human, Huntington Disease, Longitudinal Studie, MutS Homolog 3 Protein, Principal Component Analysi, Disease Progression, Registrie, Severity of Illness Index
الوصف: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.
نوع الوثيقة: article in journal/newspaper
وصف الملف: STAMPA
اللغة: English
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28642124; info:eu-repo/semantics/altIdentifier/wos/WOS:000407131400011; volume:16; firstpage:701; lastpage:711; numberofpages:11; journal:LANCET NEUROLOGY; http://hdl.handle.net/11567/920745Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020897879
DOI: 10.1016/S1474-4422(17)30161-8
الإتاحة: https://doi.org/10.1016/S1474-4422Test(17)30161-8
http://hdl.handle.net/11567/920745Test
حقوق: info:eu-repo/semantics/closedAccess
رقم الانضمام: edsbas.347D5603
قاعدة البيانات: BASE