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

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, C; 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; Callaghan, J; 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; Koivisto, Sp; 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; Verellen-Dumoulin, C; Boogaerts, A; Vandenberghe, W; 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; Orth, M; 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; Bechtel, N; Beckmann, H; Bohlen, S; Hölzner, E; Lange, H; Reilmann, R; Rohm, S; Rumpf, S; Schepers, S; Weber, N; Dose, M; Leythäuser, G; Marquard, R; Raab, T; Wiedemann, A; Barth, K; Buck, A; Connemann, J; Ecker, D; Geitner, C; Held, C; Kesse, A; Landwehrmeyer, B; Lang, C; Lewerenz, J; Lezius, F; Nepper, S; Niess, A; Orth, M; 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; Monza, D; 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; Zinzi, P; 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,; Bos, R; Dumas, Em; 't Hart EP,; Roos, Rac; Kremer, B; Verstappen, Ccp; Aaserud, O; C, Jf; Heiberg, A; van Walsem MR,; Wehus, R; Bjørgo, K; Fannemel, M; Gørvell, Pf; Lorentzen, E; Koivisto, Sp; 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; Zielonka, D; 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; Witkowski, G; Zaremba, J; Zdzienicka, E; Zieora-Jakutowicz, K; Ferreira, Jj; Coelho, M; Guedes, Lc; Mendes, T; Mestre, 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; Sebastián, Ar; 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; Cubillo, Pt; Alegre, J; Frech, Fa; de Yébenes JG,; 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; Ramos-Arroyo, Ma; 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; Wahlström, J; Wentzel, M; Loutfi, G; Olofsson, C; Stattin, El; Westman, L; Wikström, B; Burgunder, Jm; 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; Wright, A; 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; Callaghan, J; Dunnett, S; Clenaghan, C; Fullam, R; Handley, O; Hunt, S; Jones, L; Jones, U; Khalil, H; Minster, S; Owen, M; Price, K; Rosser, A; Townhill, J; 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; Chu, C; Evans, C; Gallentrae, D; Hamer, S; Kraus, A; Markova, I; Raman, A; Chu, C; Hamer, S; Hobson, E; Jamieson, S; Kraus, A; Markova, I; Raman, A; Musgrave, H; Rowett, L; Toscano, J; Wild, S; Yardumian, P; 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; Andrews, T; Bruno, S; Doherty, K; Golding, C; Haider, S; Hensman, D; Lahiri, N; Lewis, M; Novak, M; Patel, A; Robertson, N; Rosser, E; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Arran, N; Bek, J; Callaghan, J; Craufurd, D; Fullam, R; Hare, M; Howard, L; Huson, S; Johnson, L; Jones, M; Murphy, H; Oughton, E; Partington-Jones, L; Rogers, D; Sollom, A; Snowden, J; Stopford, C; 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; Peppa, N; Taylor, C; Tidswell, K; Quarrell, O; Burgunder, Jm.

doi:10.1016/S1474-4422(17)30161-8

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.

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Titolo:	Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Autori:	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 C 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 Callaghan J 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 Koivisto SP 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 Verellen-Dumoulin C Boogaerts A Vandenberghe W 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 Orth M 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 Bechtel N Beckmann H Bohlen S Hölzner E Lange H Reilmann R Rohm S Rumpf S Schepers S Weber N Dose M Leythäuser G Marquard R Raab T Wiedemann A Barth K Buck A Connemann J Ecker D Geitner C Held C Kesse A Landwehrmeyer B Lang C Lewerenz J Lezius F Nepper S Niess A Orth M 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, GIOVANNI di Poggio MB Ferrandes G MANDICH, PAOLA MARCHESE, ROBERTA Albanese A Di Bella D Castaldo A Di Donato S Gellera C Genitrini S Mariotti C Monza D 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 Zinzi P 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 Bos R Dumas EM 't Hart EP Roos RAC Kremer B Verstappen CCP Aaserud O C JF Heiberg A van Walsem MR Wehus R Bjørgo K Fannemel M Gørvell PF Lorentzen E Koivisto SP 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 Zielonka D 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 Witkowski G Zaremba J Zdzienicka E Zieora-Jakutowicz K Ferreira JJ Coelho M Guedes LC Mendes T Mestre 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 Sebastián AR 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 Cubillo PT Alegre J Frech FA de Yébenes JG 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 Ramos-Arroyo MA 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 Wahlström J Wentzel M Loutfi G Olofsson C Stattin EL Westman L Wikström B Burgunder JM 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 Wright A 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 Callaghan J Dunnett S Clenaghan C Fullam R Handley O Hunt S Jones L Jones U Khalil H Minster S Owen M Price K Rosser A Townhill J 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 Chu C Evans C Gallentrae D Hamer S Kraus A Markova I Raman A Chu C Hamer S Hobson E Jamieson S Kraus A Markova I Raman A Musgrave H Rowett L Toscano J Wild S Yardumian P 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 Andrews T Bruno S Doherty K Golding C Haider S Hensman D Lahiri N Lewis M Novak M Patel A Robertson N Rosser E Tabrizi S Taylor R Warner T Wild E Arran N Bek J Callaghan J Craufurd D Fullam R Hare M Howard L Huson S Johnson L Jones M Murphy H Oughton E Partington-Jones L Rogers D Sollom A Snowden J Stopford C 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 Peppa N Taylor C Tidswell K Quarrell O Burgunder JM. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2017
Rivista:	LANCET NEUROLOGY
Abstract:	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.
Handle:	http://hdl.handle.net/11567/920745
Appare nelle tipologie:	01.01 - Articolo su rivista

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