20 results on '"Ferrandes, G"'
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2. Identification of symbol digit modality test score extremes in Huntington's disease
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Braisch, U, Muche, R, Rothenbacher, D, Landwehrmeyer, GB, Long, JD, Bentivoglio, AR, Biunno, I, Bonelli, RM, Dunnett, SB, Illmann, T, Levey, J, Ramos-Arroyo, M, Nielsen, JE, Paivarinta, M, Sebastian, AR, Tabrizi, SJ, Vandenberghe, W, Uhrova, T, Come, A, Garde, MB, Betz, S, Capodarca, S, Wildson, SC, da Silva, V, Di Renzo, M, Finisterra, M, Genoves, C, Gilling, M, Handley, OJ, Hvalstedt, C, Koppers, K, Lamanna, C, Laura, M, Descals, AM, Monza, D, Mutze, L, Oehmen, M, Padieu, H, Paterski, L, Koivisto, SP, Rindal, B, Roren, N, Sasinkova, P, Seliverstov, Y, Timewell, E, Cubillo, PT, van Walsem, MR, Witjes-Ane, MN, Yudina, E, Zielonka, E, Zinzi, P, Braunwarth, EM, Brugger, F, Buratti, L, Hametner, EM, Hepperger, C, Holas, C, Hotter, A, Hussl, A, Larcher, B, Mahlknecht, P, Muller, C, Pinter, B, Poewe, W, Seppi, K, Sprenger, F, Wenning, G, Dupuis, M, Minet, C, Ribai, P, Van Paemel, D, Verellen-Dumoulin, C, Klempir, J, Majerova, V, Roth, J, Babiloni, B, Debruxelles, S, Duche, C, Goizet, C, Jameau, L, Lafoucriere, D, Spampinato, U, Bachoud-Levi, AC, Boisse, MF, de Langavant, LC, Lemoine, L, Morgado, G, Youssov, K, Annic, A, Barthelemy, R, De Bruycker, C, Cabaret, M, Carette, AS, Carriere, N, Decorte, E, Defebvre, L, Delliaux, M, Delval, A, Depelchin, A, Destee, A, Dewulf-Pasz, N, Dondaine, T, Dugauquier, F, Dujardin, K, Lemaire, MH, Manouvrier, S, Peter, M, Plomhause, L, Sablonniere, B, Simonin, C, Tard, C, Thibault-Tanchou, S, Vuillaume, I, Bellonet, M, Benoit, A, Blin, S, Courtin, F, Duru, C, Fasquel, V, Godefroy, O, Krystkowiak, P, Mantaux, B, Roussel, M, Tir, M, Schuler, B, Wannepain, S, Azulay, JP, Chabot, C, Delfini, M, Eusebio, A, Fluchere, F, Grosjean, H, Mundler, L, Nowak, M, Bioux, S, Bliaux, E, Girard, C, Guyant-Marechal, L, Hannequin, D, Hannier, V, Jourdain, S, Maltete, D, Pouliquen, D, Blondeau, L, Calvas, F, Cheriet, S, Delabaere, H, Demonet, JF, Pariente, J, Pierre, M, Beuth, M, Gelderblom, H, Priller, J, Pruss, H, Spruth, E, Thiel, S, Ellrichmannberlin, G, Herrmann, L, Hoffmann, R, Kaminski, B, Saft, C, Bosredon, C, Hunger, U, Lohle, M, Maass, A, Ossig, C, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Kohl, Z, Kozay, C, Ullah, J, Winkler, J, Bergmann, U, Boringer, R, Capetian, P, Kammel, G, Lambeck, J, Meier, S, Rijntjes, M, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Heinicke, W, Hidding, U, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Francis, F, Gayde-Stephan, S, Gorzolla, H, Kramer, B, Minschke, R, Schrader, C, Tacik, P, Longinus, B, Lusebrink, A, Muhlau, M, Peinemann, A, Stadtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Gopfert, N, Holzner, E, Lange, H, Reilmann, R, Rohm, S, Rumpf, S, Sass, C, Schepers, S, Weber, N, Barth, K, Buck, A, Connemann, J, Ecker, D, Geitner, C, Held, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Lewerenz, J, Nepper, S, Niess, A, Orth, M, Schneider, A, Schwenk, D, Sussmuth, S, Trautmann, S, Weydt, P, Klebe, S, Musacchio, T, Leypold, C, Noth, K, Cormio, C, de Tommaso, M, Franco, G, Sciruicchio, V, Serpino, C, Calandra-Buonaura, G, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Sambati, L, Scaglione, C, Maserati, MS, Agosti, C, Barlati, S, Compostella, S, Marchina, E, Padovani, A, Bertini, E, Ghelli, E, Ginestroni, A, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Ferrandes, G, Mandich, P, Marchese, R, Tamburini, T, Baake, V, van den Bogaard, SJA, Bos, R, Dumas, EM, t'Hart, EP, Kampstra, A, Roos, RAC, Schoonderbeek, A, Aaserud, O, Bjorgo, K, Borgeod, N, Dramstad, E, Fannemel, M, Frich, JC, Gorvell, PF, Heiberg, A, Lorentzen, E, Retterstol, L, Rosby, O, Sikiric, A, Stokke, B, van Walsem, M, Wehus, R, Bjornevoll, I, Sando, SB, Haug, MG, Storseth, HH, Arntsen, V, Dziadkiewicz, A, Konkel, A, Narozanska, E, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Arkuszewski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Nska-Myga, BJ, Kaczmarczyk, A, Klodowska-Duda, G, Opala, G, Stompel, D, Banaszkiewicz, K, Bocwinska, D, Bojakowska-Jaremek, K, Dec, M, Grabska, N, Krawczyk, GM, Kubowicz, E, Malec-Litwinowicz, M, Rudzinska, M, Stenwak, A, Szczudlik, A, Szczygiel, E, Wojcik, M, Wasielewska, A, Bryl, JAA, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Sniewski, BW, Zielonka, D, Gogol, A, Janik, P, Jamrozik, Z, Kaminska, A, Kwiecinski, H, 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, Ziora-Jakutowicz, K, Januario, C, Julio, F, Guedes, LC, Coelho, M, Finisterra, AM, Ferreira, JJ, Mestre, T, Mendes, T, Rosa, MM, Valadas, A, Kopishinskaya, S, Korotysh, M, Herrera, CD, Moreno, PG, Bas, J, Busquets, N, Calopa, M, Classen, SJ, Dedicha, NR, Buongiorno, MT, Maria, ADS, Munoz, E, Santacruz, P, Barbera, MA, Pardo, SA, Guia, DB, Calzado, N, Hernanz, LC, Diaz-Zorita, JPT, Catena, JL, Ferrer, PQ, Carruesco, GT, Robert, MF, Viladrich, CM, Roca, E, Idiago, JMR, Riballo, AV, Campolongo, A, de Bobadilla, RF, Bojarsky, JK, Martinez-Horta, S, Pagonabarraga, J, Perez, JP, Ribosa, R, Villa, C, Gil, MAA, Corrales, KB, Esteban, JCG, Gonzalez, A, Merino, BT, Cubo, E, Polo, CG, Mariscal, N, Romero, SG, Arbelo, JM, de Molina, RM, Martin, I, Perianez, JM, Udaeta, B, Alonso-Frech, F, Frades, B, Villanueva, MA, Sevilla, MAZ, Frech, FA, Fenollar, MD, Garcia, RGR, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Barral, VM, Ruiz, PJG, Garcia, A, Lopez, RG, Barcenas, AH, Martinez-Descals, A, Martin, VP, Martinez, NR, Artiga, MJS, Sanchez, V, Pueyo, A, Gonzalez, S, Guisasola, LM, Ribacoba, MPPR, Salvador, C, Lozano, PS, Caldentey, JG, Ramirez, IL, Arques, PN, Lopera, MR, Pastor, BV, Gaston, I, Garcia-Amigot, F, Martinez-Jaurrieta, MD, Ramos-Arroyo, MA, Carrillo, F, Redondo, MTC, Mir, P, Gonzalez, LV, Moreno, JMG, Lucena, CM, Pena, JC, Redondo, L, Sanchez, VS, Fernandez, CM, Mata, MP, Lemos, MDR, Bosca, M, Burguera, JA, Vilaplana, FCBCP, Solis, P, Figuerola, BJ, Palanca, PM, Berglund, P, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Linnsand, P, Neleborn-Lingefjard, L, Wahlstrom, J, Palhagen, S, Svenningsson, P, Paucar, M, Wallden, T, Ekwall, C, Goller, ML, Sundblom, J, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jung, H, Petersen, J, Auer, M, Mihaylova, V, Vernon, N, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Piedad, J, Rickards, H, Wright, J, Pallett, A, Coulthard, E, Gethin, L, Hayward, B, Sieradzan, K, Wright, A, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Price, K, Townhill, J, Rosser, A, Edwards, M, Ho, C, McGill, M, Porteous, M, Pearson, P, Harrower, T, Irvine, S, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Deith, C, Ireland, J, Ritchie, S, Andrew, A, Frost, J, Noad, R, Cosgrove, J, Gallantree, D, Hamer, S, Hobson, E, Jamieson, S, Kraus, A, Longthorpe, M, Markova, I, Musgrave, H, Peacy, C, Raman, A, Rowett, L, Toscano, J, Wild, S, Yardumian, P, Clayton, C, Dipple, H, Freire-Patino, D, Hallam, C, Middleton, J, Alusi, S, Davies, R, Foy, K, Gerrans, E, Leggett, H, Pate, L, Anjum, U, Coebergh, J, Eddy, C, McEntagart, M, Patton, M, Peterson, M, Rose, S, Andrews, T, Brown, S, 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, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington-Jones, L, Rogers, D, Sollom, A, Snowden, J, Stopford, C, Thompson, J, Tinkler, P, Trender-Gerhard, I, Verstraelen, N, Westmoreland, L, Cass, G, Davidson, L, Davison, J, Fullerton, N, Holmes, K, Komati, S, McDonnell, S, Mohammed, Z, Morgan, K, Savage, L, Singh, B, Wood, J, Chu, E, Knight, C, O'Neill, M, Das Purkayastha, D, Nemeth, AH, Siuda, G, Valentine, R, Dixon, K, Armstrong, R, Harrison, D, Hughes, M, Large, S, Donovan, JO, Palmer, A, Parkinson, A, Soltysiak, B, Timings, L, Williams, J, Burn, J, Weekes, R, Craven, J, Bailey, W, Coleman, C, Haig-Brown, D, Simpson, S, Hare, M, Majeed, T, Bandmann, O, Bradbury, A, Fairtlough, H, Fillingham, K, Foustanos, I, Gill, P, Kazoka, M, Nevitt, L, Peppa, N, Quarrell, O, Taylor, C, Tidswell, K, O'Donovan, K, Agarwal, V, Anderson, M, Gunner, K, Harris, K, Hayward, E, Heywood, M, Keys, L, Kipps, C, MacKinnon, L, Smalley, S, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M, Tan, L, Burgunder, JM, Lau, PN, Pica, E, Shoulson, I, Gusella, JG, Antonijevic, I, vankammen, D, Foroud, T, Warner, J, Giuliano, J, Vetter, L, Marshall, F, Marder, K, Frucht, S, Moskowitz, C, Clouse, R, Wasserman, P, Shannon, K, Jaglin, J, Jankovic, J, Palao, A, Harrison, M, Singer, C, Quesada, M, Hersch, S, Rosas, D, Tanev, K, Malarick, K, Colcher, A, Sanchez-Ramos, J, Kostyk, S, Paulsen, J, Perlmutter, J, Tabbal, S, Ross, C, Dorsey, R, Nucifora, F, Dubinsky, R, Dubinsky, H, Suchowersky, O, Klimek, ML, Jones, R, Morgan, J, Mohlo, E, Kang, U, Agarwal, P, Factor, S, Jennings, D, Higgins, D, Adams, J, Frank, S, Saint-Hilaire, M, Diggin, M, Furtado, S, Walker, F, O'Neill, C, Quaid, K, LeDoux, M, Raymond, L, Leavitt, B, Decolongon, J, Perlman, S, Peavy, G, Goldstein, J, Kumar, R, McCusker, E, Griffith, J, Loy, C, Wheelock, V, Tempkin, T, Martin, A, Nance, M, Mallonee, W, Suter, G, Revilla, F, Gartner, M, Drazinic, C, Fitzpatrick, MJ, Panisset, M, Duff, K, Scott, B, Weiner, W, Robottom, B, Chiu, E, Yastrubetskaya, O, Churchyard, A, Greenamyre, TJ, Oakes, D, Beck, C, Robertson, S, Eaton, K, Lindsay, P, Deuel, L, MacDonald, M, Hickey, C, Muratori, L, Leserman, A, Doucette, N, Uc, E, Rodnitzky, R, Vik, S, Davis, R, Dietrich, S, Segro, V, Erickson, D, Hunt, V, Lucarelli, N, Broyles, J, Delarosa, J, Louis, E, Panegyres, P, Schmidt, A, Barton, S, Sperin, E, Testa, C, Thiede, F, Zauber, SE, McInnis, R, Welsh, C, Wesson, M, Coleman, A, and European Commission
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Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,COHORT ,Cox hazard model ,quantile regression ,REGISTRY ,symbol digit modalities test ,Genotype ,Neuropsychological Tests ,Cohort Studies ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Cognition ,0302 clinical medicine ,Huntington's disease ,Rating scale ,mental disorders ,medicine ,Humans ,Verbal fluency test ,Longitudinal Studies ,Genetics (clinical) ,Proportional Hazards Models ,030304 developmental biology ,0303 health sciences ,Proportional hazards model ,business.industry ,Reproducibility of Results ,Middle Aged ,medicine.disease ,nervous system diseases ,Psychiatry and Mental health ,Huntington Disease ,Phenotype ,Test score ,Cohort ,Disease Progression ,Female ,Observational study ,business ,030217 neurology & neurosurgery ,Stroop effect ,Clinical psychology - Abstract
REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group., Studying individuals with extreme phenotypes could facilitate the understanding of disease modification by genetic or environmental factors. Our aim was to identify Huntington's disease (HD) patients with extreme symbol digit modality test (SDMT) scores. We first examined in HD the contribution of cognitive measures of the Unified Huntington's Disease Rating Scale (UHDRS) in predicting clinical endpoints. The language-independent SDMT was used to identify patients performing very well or very poorly relative to their CAG and age cohort. We used data from REGISTRY and COHORT observational study participants (5,603 HD participants with CAG repeats above 39 with 13,868 visits) and of 1,006 healthy volunteers (with 2,241 visits), included to identify natural aging and education effects on cognitive measures. Separate Cox proportional hazards models with CAG, age at study entry, education, sex, UHDRS total motor score and cognitive (SDMT, verbal fluency, Stroop tests) scores as covariates were used to predict clinical endpoints. Quantile regression for longitudinal language-independent SDMT data was used for boundary (2.5% and 97.5% quantiles) estimation and extreme score analyses stratified by age, education, and CAG repeat length. Ten percent of HD participants had an extreme SDMT phenotype for at least one visit. In contrast, only about 3% of participants were consistent SDMT extremes at two or more visits. The thresholds for the one-visit and two-visit extremes can be used to classify existing and new individuals. The identification of these phenotype extremes can be useful in the search for disease modifiers., This work was in part funded by a grant from the EuropeanCommission under the 7th framework programme (RD-Connect, grantagreement number 305444).
- Published
- 2019
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3. Suicidal ideation in a European Huntington's disease population
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Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast RC, Giltay, Ej, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo MA, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, Šašinková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva WV, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, As, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, 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, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Salvatore, E, Rinaldi, C, Rossi, F, Massarelli, M, Roca, A, Ammendola, S, Russo, Cv, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, Romano, S, van Hout MS, van Vugt JP, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard SJ, 't Hart EP, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, 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, Opala, G, Kłodowska Duda, G, Stompel, D, Banaszkiewicz, K, Boćwińska, D, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygieł, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Wiśniewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, Stępniak, I, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno JL, García Ruíz PJ, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea MF, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Martinez Jaurrieta MD, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani TW, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani TW, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Guzman, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, Quarrell, O., Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), A. A., M, E. v., Duijn, R. A., C, D., Craufurd, H., Rickard, G. B., Landwehrmeyer, R. C., Van, E. J., Giltay, R. E., G., Rinaldi, Carlo, Anna A.M. Huber, Erik van Duijn, Raymund A.C. Roo, David Craufurd, Hugh Rickard, G. Bernhard Landwehrmeyer, Rose C. van der Mast, Erik J. Giltay REGISTRY investigators of the European Huntington's Disease Network. Collaborators: Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, llmann TI, Landwehrmeyer GB, Levey J, Ramos-Arroyo MA, Nielsen JE, ProKoivisto S, Päivärinta M, Roos RA, Rojo Sebastián A, Tabrizi SJ, Vandenberghe W, Verellen- Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Pro Koivisto S, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, Walsem MR, Wright A, da Silva WV, Witjes-Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Poewe W, Braunwarth EM, Sprenger F, Müller C, Sinadinosa D, Walleczek AM, Ladurner G, Staffen W, Flamez A, Morez V, de Raedt S, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hartikainen P, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer- Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann M, Marcel C, Calvas F, Pariente J, Démonet JF, Cheriet S, Kosinski CM, Milkereit E, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüß H, Spruth EJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Bosredon C, Maass A, Schmidt S, Storch A, Wolz M, Kohl Z, Winkler J, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Dressler D, Gorzolla H, Schrader C, Tacik P, Heinicke W, Longinus B, Bürk K, Möller JC, Rissling I, Mühlau M, Peinemann A, Städtler M, Weindl A, Winkelmann J, Ziegler C, Bohlen S, Hölzner E, Reilmann R, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Buck A, Connemann J, Eschenbach C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Schwenk D, Süßmuth S, Trautmann S, Weydt P, Cormio C, Sciruicchio V, Serpino C, Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, 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, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Salvatore E, Rinaldi C, Rossi F, Massarelli M, Roca A, Ammendola S, Russo CV, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, Weert A, Bolwijn J, Dekker M, Leenders K, Kremer HP, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Økland E, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Koivisto SP, Retterstøl L, Overland T, Stokke B, Sando B, 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, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzińska M, Wójcik M, Dec M, Krawczyk M, Jaremek KB, Szczygieł E, Stenwak A, ielewska AW, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Timóteo Â, Costa C, Cavaco S, Damásio J, Loureiro R, Magalhães M, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Quiroga PP, Rivera SV, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, Yébenes JG, López-Sendón Moreno JL, García Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Noguera Perea MF, Fortuna L, Martirio M, Torres A, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastián AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, Díez-AjaLópez C, Terol SD, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Càrdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, San Martín ES, González M, Gorospe A, Legarda I, Arques PN, Torres Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Manuel J, Moreno G, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Bosca M, Burguera JA, Garcia AC, Brugada FC, Martínez LM, Val JL, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, lhagen SE, Paucar M, Svenningsson P, Reza- Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Tedr- off J, Esmaeilzadeh M, Winnberg E, Pålhagen S, Svennigsson P, Riza-Soltani TW, Sundblom J, Johansson A, Wiklund L, Ekwall C, Göller ML, Petersén A, Reimer J, Widner H, Stebler Y, Kaelin A, Romero I, Schüpbach M, Weber S, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, Souza J, Rickards H, Wright J, Hayward B, Sieradzan K, Barker RA, O'Keefe D, Di Pietro A, Fisher K, Hill S, Mason S, Swain R, Valle N, Guzman, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Wild S, Yarduiman P, Chu C, Kraus A, Yardumian P, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Craufurd D, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Burn J, Coleman C, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O'Donovan K, Taylor C, Tidswell K, Quarrell O., Molecular Neuroscience and Ageing Research (MOLAR), Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast, Rc, Giltay, Ej, CollaboratorsBachoud Lévi AC, REGISTRY investigators of the European Huntington's Disease N. e. t. w. o. r. k., Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo, Ma, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, a??inková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva, Wv, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempí??, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, A, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, 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, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Salvatore, Elena, Rossi, F, Massarelli, Marco, Roca, Alessandro, Ammendola, S, Russo, Cinzia, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, Rinaldi, C, Massarelli, M, Roca, A, Russo, Cv, van Hout, M, van Vugt, Jp, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard, Sj, 't Hart, Ep, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, 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, Opala, G, K??odowska Duda, G, Stompel, D, Banaszkiewicz, K, Bo??wi??ska, D, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygie??, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempo??owicz, J, Samara, H, Wi??niewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, St??pniak, I, Witkowski, G, Zdzienicka, E, Su??ek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno, Jl, García Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea, Mf, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez, Mj, Vives, B, Gaston, I, Martinez Jaurrieta, Md, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani, Tw, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani, Tw, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, and Quarrell, O.
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Male ,medicine.medical_specialty ,Heterozygote ,Psychopharmacology ,Population ,Poison control ,psychology/statistics /&/ numerical data ,Suicide, Attempted ,Suicide prevention ,Suicidal Ideation ,[SHS]Humanities and Social Sciences ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Prevalence ,Humans ,epidemiology, Europe ,Psychiatry ,education ,Suicidal ideation ,ComputingMilieux_MISCELLANEOUS ,Proportional Hazards Models ,Attempted ,Psychiatric Status Rating Scales ,education.field_of_study ,Psychological Tests ,Suicide attempt ,Psychopathology ,Depression ,Hazard ratio ,Huntington's disease ,Odds ratio ,Middle Aged ,3. Good health ,030227 psychiatry ,Europe ,psychology, Male, Middle Aged, Prevalence, Proportional Hazards Models, Psychiatric Status Rating Scales, Psychological Tests, Suicidal Ideation, Suicide ,Clinical Psychology ,Psychiatry and Mental health ,Suicide ,Huntington Disease ,epidemiology, Female, Heterozygote, Humans, Huntington Disease ,Cohort studies ,Female ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
BACKGROUND: Previous studies indicate increased prevalences of suicidal ideation, suicide attempts, and completed suicide in Huntington's disease (HD) compared with the general population. This study investigates correlates and predictors of suicidal ideation in HD.METHODS: The study cohort consisted of 2106 HD mutation carriers, all participating in the REGISTRY study of the European Huntington's Disease Network. Of the 1937 participants without suicidal ideation at baseline, 945 had one or more follow-up measurements. Participants were assessed for suicidal ideation by the behavioural subscale of the Unified Huntington's Disease Rating Scale (UHDRS). Correlates of suicidal ideation were analyzed using logistic regression analysis and predictors were analyzed using Cox regression analysis.RESULTS: At baseline, 169 (8.0%) mutation carriers endorsed suicidal ideation. Disease duration (odds ratio [OR]=0.96; 95% confidence interval [CI]: 0.9-1.0), anxiety (OR=2.14; 95%CI: 1.4-3.3), aggression (OR=2.41; 95%CI: 1.5-3.8), a previous suicide attempt (OR=3.95; 95%CI: 2.4-6.6), and a depressed mood (OR=13.71; 95%CI: 6.7-28.0) were independently correlated to suicidal ideation at baseline. The 4-year cumulative incidence of suicidal ideation was 9.9%. Longitudinally, the presence of a depressed mood (hazard ratio [HR]=2.05; 95%CI: 1.1-4.0) and use of benzodiazepines (HR=2.44; 95%CI: 1.2-5.0) at baseline were independent predictors of incident suicidal ideation, whereas a previous suicide attempt was not predictive.LIMITATIONS: As suicidal ideation was assessed by only one item, and participants were a selection of all HD mutation carriers, the prevalence of suicidal ideation was likely underestimated.CONCLUSIONS: Suicidal ideation in HD frequently occurs. Assessment of suicidal ideation is a priority in mutation carriers with a depressed mood and in those using benzodiazepines.
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- 2013
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4. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients
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Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, CAPELLARI, SABINA, CORTELLI, PIETRO, Gallassi R, PODA, ROBERTO, RIZZO, GIOVANNI, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, 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, Opala G, Kłodowska Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza Soltani TW, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, 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, Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos-Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes-Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev-Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer-Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, 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, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska-Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán-Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza-Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, 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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, and Quarrell O
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Adult ,Adolescent ,Genotype ,Huntington ,Ubiquitin-Activating Enzymes ,Autophagy-Related Protein 7 ,Polymorphism, Single Nucleotide ,Cohort Studies ,Young Adult ,Gene Frequency ,V471A polymorphism ,Genetics ,Autophagy ,Humans ,Age of Onset ,Child ,Biology ,Genetic Association Studies ,Aged ,Clinical Genetics ,Evolutionary Biology ,Computational Biology ,Human Genetics ,Middle Aged ,Huntington Disease ,Neurology ,Italy ,Autosomal Dominant ,Child, Preschool ,Genetic Polymorphism ,Medicine ,Population Genetics ,gene ATG7 ,Research Article - Abstract
The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.
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- 2013
5. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
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Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, 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, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Rinaldi, Carlo, Russo, Cv, Salvatore, Elena, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Dumas, Em, Jurgens, Ck, van den Bogaard, Sj, 't Hart, Ep, Kremer, B, Verstappen, Cc, Frich, J, Wehus, R, Aaserud, O, Borgerød, N, Bjørgo, K, Fannemel, M, Gørvell, P, Pro Koivisto, S, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Blinkenberg, Eø, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Júlio, F, Januário, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Vale, J, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Bascuñana, M, Ventura, Mf, Ribas, Gg, de Yébenes, Jg, Moreno, Jl, Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Perea, Mf, Lorenza, F, Torres, Mm, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Muñoz, E, Elorza, Md, López, Cd, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Pons i., Càrdenas R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Villa Riballo, A, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, Gorospe, A, Legarda, I, Arques, Pn, Rodríguez, Mj, Vives, B, Gaston, I, Ramos Arroyo, Ma, Moreno, Jm, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Martínez, Lm, del Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Höglund, A, Pålhagen, Se, Paucar, M, Sandström, B, Soltani, R, Svenningsson, P, Reza Soltani, Tw, Constantinescu, R, Fredlund, G, Høsterey Ugander, U, Neleborn Lingefjärd, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Björn, Y, Ekwall, C, Gøller, Ml, Johansson, A, Wiklund, L, Petersen, Å, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza Keylock, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Faculty of Economic and Social Sciences and Solvay Business School, Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Orth M., European Huntington's Disease Network, Handley O.J., Schwenke C., Dunnet S., Wild E.J., Tabrizi S.J., Landwehrmeyer G.B., Capellari S., Cortelli P., Gallassi R., Poda R., Rizzo G., and Scaglione C.
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Gerontology ,medicine.medical_specialty ,Neurology ,International Cooperation ,Disease ,Irritability ,Data Collection/methods ,Huntington's disease ,medicine ,Humans ,Registries ,Psychiatry ,Suicidal ideation ,Disease burden ,business.industry ,Data Collection ,medicine.disease ,Europe ,Huntington Disease ,Psychiatry and Mental health ,European Huntington's Disease Network ,Surgery ,Observational study ,Neurology (clinical) ,medicine.symptom ,business - Abstract
BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS: We report on cross-sectional data of the first 1766 participants in REGISTRY, the European Huntington's Disease Network's (EHDN), multi-lingual, multi-national prospective observational study of HD in Europe. Data collection (demographics, phenotype, genotype, medication, co-morbidities, biosamples) followed a standard protocol. RESULTS: Phenotype, and the HD genotype, of manifest HD participants across different European regions was similar. Motor onset was most common (48%) with a non-motor onset in more than a third of participants. Motor signs increased, and cognitive abilities and functional capacity declined as the disease burden (CAGn-35.5) X age) increased. A life-time history of behavioural symptoms was common, but the behavioural score was not related to disease burden. One fifth of participants had severe psychiatric problems, e.g. suicidal ideation and attempts, and/or irritability/aggression, with psychosis being less common. Participants on anti-dyskinetic medication had a higher motor and lower cognitive score, were older, and more prone to physical trauma. A higher motor and a lower cognitive score predicted more advanced disease. CONCLUSIONS: The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of novel treatments.
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- 2011
6. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY
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Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB, Investigators of the European Huntington's Disease N.e.t.w.o.r.k. CollaboratorsBonelli R, Herranhof B, Hödl A, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Flamez A, Morez V, de Raedt S, Ribaï P, Verellen Dumoulin C, Vandenberghe W, van Reijen D, Hasholt L, Hjermind L, Jakobsen O, Nørremølle A, Sørensen S, Stokholm J, Peippo M, Sipponen M, Hiivola H, Martikainen K, Tuuha K, Kosinski C, Probst D, Sass C, Schiefer J, Schlangen C, Werner C, Priller J, Prüss H, Andrich J, Hoffmann R, Kraus P, Prehn C, Saft C, Salmen S, Strassburger K, Lange H, Hunger U, Löhle M, Schmidt S, Storch A, Wolz A, Wolz M, Lammbeck J, Zucker B, Hidding U, Münchau A, Stubbe L, Heinicke W, Longinus B, Möller J, Rissling I, Peinemann A, Städtler M, Weindl A, Bohlen S, Reilmann R, Beister A, Dose M, Leythaeuser G, Marquard R, Schrenk C, Schuierer M, Wiedemann A, Ecker D, Landwehrmeyer B, Lezius F, Trautmann S, Bertini E, Mechi C, Paganini M, Piacentini S, Romoli M, Sorbi S, Abbruzzese G, di Poggio M, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Donato S, Mariotti C, Soliveri P, Carlo R, Luigi D, Rinaldi C, Tucci T, Ciarmiello A, Martino T, Simonelli M, Squitieri F, Bentivoglio A, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Romano S, Soleti F, Spadaro M, Zinzi P, Heiberg A, van Walsem M, Bjørgo K, Fannemel M, Lars Retterstøl P, Bjørnevoll I, Sando S, Sitek E, Slawek J, Soltan W, Boczarska Jedynak M, Jasinska Myga B, Opala G, Rudzińska M, Szczudlik A, Wójcik M, Banaszkiewicz K, Bryl A, Ciesielska A, Klimberg A, Kozubski W, Marcinkowski J, Sempołowicz P, Zielonka D, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Witkowski G, Rakowicz M, Richter P, Ryglewicz D, Zaremba J, Zdzienicka E, Costa C, Coelho M, Ferreira J, Mestre T, Rosa M, Valadas A, Gago M, Garrett C, Guerra M, Bas J, Calopa M, Barberà M, Badenes D, Casas L, Arroyo S, Vara J, Krupinski J, López J, Obdulia M, Ferrer P, Sebastián A, Contreras S, Carruesco G, Cubo E, Mariscal N, Sánchez J, Barrero F, Morales B, López Sendón Moreno J, García RR, Quiroga P, Villanueva C, Ruíz Espiga PJ, Martínez A, Artiga MS, Sánchez V, Bascuñana M, Fatas M, Ribas G, de Yébenes J, López Moreno J, Schwarz C, Cubillo P, Arques P, Gorospe A, Legarda I, Torres Rodríguez M, Gaston I, Ramos Arroyo MA, Del Val JL, Martinez L, Burgunder JM, Romero I, Schüpbach M, Zaugg SW, van Hout MS, van Vugt JP, de Weert AM, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Bos R, Dumas E, Jurgens CK, Roos RA, Witjes Ané MN, Matheson K, Rae D, Simpson S, Summers F, Ure A, Curtis A, Keylock J, Rickards H, Wright J, Barker R, Fisher K, Goodman AG, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Ellison Rose L, Handley O, Dunnett S, Naji J, Price K, Rosser A, Edwards M, De Sousa P, Hughes T, McGill M, Pearson P, Porteous M, Zema A, Brockie P, Foster J, Johns N, McKenzie S, Thomas G, Burrows L, Fletcher A, Laver F, Silva M, Thomson A, Chu C, Hobson E, Jamieson S, Toscano J, Wild S, Yardumian P, Bourne C, Clayton C, Dipple H, Grant J, Gross D, Hallam C, Middleton J, Murch A, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Bruno S, Henley S, Novak M, O'Driscoll C, Patel A, Rosser E, Tabrizi S, Taylor R, Warner T, Arran N, Fullam R, Howard L, Huson S, Partington Jones L, Ritchie N, Snowden J, Solom A, Stopford C, Thompson J, Westmoreland L, Nemeth A, Siuda G, Bandmann O, Bradbury A, Fillingham K, Foustanos I, Quarrell O, Reynders H, Robertson L, Tidswell K., DE MICHELE, GIUSEPPE, SALVATORE, ELENA, Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB, Investigators of the European Huntington's Disease Network. Collaborators (314), Orth, M, Handley, Oj, Schwenke, C, Dunnett, Sb, Craufurd, D, Ho, Ak, Wild, E, Tabrizi, Sj, Landwehrmeyer, Gb, CollaboratorsBonelli R, Investigators of the European Huntington's Disease N. e. t. w. o. r. k., Herranhof, B, Hödl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribaï, P, Verellen Dumoulin, C, Vandenberghe, W, van Reijen, D, Hasholt, L, Hjermind, L, Jakobsen, O, Nørremølle, A, Sørensen, S, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Priller, J, Prüss, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strassburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, J, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Ecker, D, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, D, DE MICHELE, Giuseppe, Rinaldi, C, Salvatore, Elena, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, van Walsem, M, Bjørgo, K, Fannemel, M, Lars Retterstøl, P, Bjørnevoll, I, Sando, S, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Rudzińska, M, Szczudlik, A, Wójcik, M, Banaszkiewicz, K, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempołowicz, P, Zielonka, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Witkowski, G, Rakowicz, M, Richter, P, Ryglewicz, D, Zaremba, J, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, J, Mestre, T, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Bas, J, Calopa, M, Barberà, M, Badenes, D, Casas, L, Arroyo, S, Vara, J, Krupinski, J, López, J, Obdulia, M, Ferrer, P, Sebastián, A, Contreras, S, Carruesco, G, Cubo, E, Mariscal, N, Sánchez, J, Barrero, F, Morales, B, López Sendón Moreno, J, García, Rr, Quiroga, P, Villanueva, C, Ruíz Espiga, Pj, Martínez, A, Artiga, M, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, G, de Yébenes, J, López Moreno, J, Schwarz, C, Cubillo, P, Arques, P, Gorospe, A, Legarda, I, Torres Rodríguez, M, Gaston, I, Ramos Arroyo, Ma, Del Val, Jl, Martinez, L, Burgunder, Jm, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Jurgens, Ck, Roos, Ra, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goodman, Ag, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Dunnett, S, Naji, J, Price, K, Rosser, A, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, Novak, M, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, and Tidswell, K.
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- 2010
7. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
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Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, Ehdn, Rsg, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Roos, Ra, Bachoud Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, Giovanni, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, De michele, G, Rinaldi, C, Salvatore, E, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, Ms, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Mandich, Paola, Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, EHDN Registry Study, Group, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Bachoud Levi AC, Roos R. A., Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, DE MICHELE, Giuseppe, Rinaldi, Carlo, Salvatore, Elena, Tucci, Tecla, Ciarmielo, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Neurology, Clinical sciences, and Neuroprotection & Neuromodulation
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Adult ,Male ,medicine.medical_specialty ,Pathology ,congenital, hereditary, and neonatal diseases and abnormalities ,Huntingtin ,Adolescent ,Huntington Disease/epidemiology ,Serotonin Plasma Membrane Transport Proteins/genetics ,Severity of Illness Index ,Basal Ganglia ,Central nervous system disease ,Young Adult ,Degenerative disease ,Internal medicine ,Basal ganglia ,Severity of illness ,mental disorders ,medicine ,Humans ,Prospective Studies ,Allele ,Age of Onset ,Child ,Basal Ganglia/pathology ,Aged ,Serotonin Plasma Membrane Transport Proteins ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Endocrinology ,Huntington Disease ,Mutation ,Disease Progression ,Female ,Neurology (clinical) ,Age of onset ,Trinucleotide repeat expansion ,Psychology ,Trinucleotide Repeat Expansion ,Follow-Up Studies - Abstract
OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using linear regression and mixed-effects models, the influence of mutant and normal CAG repeat sizes interaction was assessed on 1) age at onset in 921 patients with HD, 2) clinical severity and progression in 512 of these patients with follow-up data available, and 3) basal ganglia volume on magnetic resonance images in 16 premanifest HD mutation carriers. RESULTS: Normal and mutant CAG repeat sizes interacted to influence 1) age at onset (p = 0.001), 2) severity or progression of motor, cognitive, and functional, but not behavioral, symptoms in patients with HD (all p < 0.05), and 3) in premanifest subjects, basal ganglia volumes (p < 0.05). In subjects with mutant CAG expansions in the low range, increasing size of the normal repeat correlated with more severe symptoms and pathology, whereas for those subjects with expansions in the high range, increasing size of the normal repeat correlated with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal and mutant huntingtin (fragments) and needs further elucidation. These findings may have predictive value and are essential for the design and interpretation of future therapeutic trials.
- Published
- 2009
8. Identificare e classificare
- Author
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A. F. Ferrandes, G. Pardini, Giannichedda, Enrico, Giannichedda, Enrico (ORCID:0000-0001-7229-9273), A. F. Ferrandes, G. Pardini, Giannichedda, Enrico, and Giannichedda, Enrico (ORCID:0000-0001-7229-9273)
- Abstract
il concetto di classificazione negli studi di archeologia
- Published
- 2016
9. β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease
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Vittori, A, Orth, M, Roos, Ra, Outeiro, Tf, Giorgini, F, Hollox, Ej, Bachoud-Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Landwehrmeyer, Gb, Levey, J, Martinez-Jaurrieta, Md, Nielsen, Je, Pro Koivisto, S, Piiiviirinta, M, Sebastian, Ar, Tabrizi, Sj, Vandenberghe, W, Verellen-Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Barth, K, Correia-Guedes, L, Finisterra, Am, Bascuiiana Garde, M, Betz, S, Bos, R, Ecker, D, Held, C, Koppers, K, Laura, M, Descals, Am, Mestre, T, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Rialland, A, Røren, N, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes-Ane, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Hod, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Scheib, M, Hecht, K, Lilek, S, Muller, N, Schoggl, H, Ullah, J, Ribal, P, Klempff, J, Majerova, V, Roth, J, Hjermind, Le, Jakobsen, O, Vinthev-Jensen, T, Larsen, Iu, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Santala, M, Milkereit, E, Kosinski, Cm, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Lohle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Miinchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Ribbat, M, Longinus, B, Miihlau, M, Peinemann, A, Stiidtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Holzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Siissmuth, S, Trautmann, S, Weydt, P, Cormio, C, de Tommaso, M, Sciruicchio, V, Serpino, C, Ghelli, E, Ginestroni, A, Bertini, E, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Ferrandes, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Soliveri, P, Tomasello, C, De Michele, G, Dimaio, L, Massarelli, M, Rinaldi, C, Roca, A, Rossi, F, Russo, Cv, Salvatore, E, Sorrentino, P, Tucci, T, De Nicola, A, Elifani, F, Petrollini, M, Martino, T, Lovo, F, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Piccininni, C, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, de Weert, A, Bolwijn, Jj, Neurologie, P, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, van Walsem MR, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, 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, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Jasinska-Myga, B, Opala, G, Klodowska, G, Stompel, D, Banaszkiewicz, K, Boewiriska, D, Bojakowska-Jaremek, K, Neurologii, A, Dec, M, Krawczyk, M, Rudziriska, M, Szczudlik, A, Szczygiel, E, Wasielewska, A, Wojcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Sulek, A, Witkowski, G, Zdzienicka, E, Zieora-Jakutowicz, K, Coelho, M, Mendes, T, Valadas, A, Andrade, C, Joao, Ps, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Cubo, E, Mariscal, N, Sanchez, J, Barrero, Fj, Alonso-Frech, F, Perez, Mr, Fenollar, M, Garda, R, Rivera, Sv, Villanueva, C, Alegre, J, Bascuiiana, M, Ventura, Mf, Ribas, Gg, Moreno, Jl, Cubillo, Pt, Rufz, Pj, Frech, Fa, Dfaz, J, Guerrero, R, Artiga, Mj, Sanchez, V, Alcaraz, Lf, de Ia Arrixaca, V, Manzanares, S, Perea, Mf, Reinante, G, Arrixaca, Ia, Torres, Mm, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastian, R, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Munoz, E, Elorza, Md, Lopez, Cd, Terol, Ds, Robert, Mf, Rufz, Bg, Casado, Ag, Martinez, Ih, Viladrich, Cm, Pons, R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, Garcia, Ss, Riballo, Av, Hoglund, A, Palhagen, Se, Paucar, M, Sandstrom, B, Svenningsson, P, Reza-Soltani, Tw, Kaelin, A, Romero, I, Schupbach, M, Stebler, Y, Zaugg, Sw, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, Ao, Hill, S, Kershaw, A, Mason, S, O'Keefe, D, Swain, R, Guzman, Nv, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Fullam, R, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Hunt, S, Price, K, Rosser, A, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Porteous, M, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Burrows, L, Chu, C, Fletcher, A, Gallantrae, D, Harding, A, Hamer, S, Kraus, A, Laver, F, Longthorpe, M, Markova, I, Raman, A, Silva, M, Thomson, A, Wild, S, Yardumian, P, Hobson, E, Jamieson, S, Musgrave, H, Rowett, L, Toscano, J, Clayton, C, Dipple, H, Middleton, J, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Bruno, S, Doherty, K, Lahiri, N, Novak, M, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Callaghan, J, Craufurd, D, Howard, L, Hare, M, Huson, S, Johnson, L, Jones, M, Murphy, H, Oughton, E, Partington-Janes, L, Rogers, D, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender-Gerhard, I., Vittori, Angelica, Orth, Michael, Roos, Raymund A C, Outeiro, Tiago F, Giorgini, F, Russo, Cinzia Valeria, Flaviano, and Hollox, Edward J
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Adult ,Male ,Age of Onset ,DNA Copy Number Variations ,Female ,Genotype ,Humans ,Huntington Disease ,Middle Aged ,beta-Defensins ,Disease ,Biology ,Genetic modifier ,Article ,Pathogenesis ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,Huntington's disease ,medicine ,Copy-number variation ,Defensin ,030304 developmental biology ,Genetics ,0303 health sciences ,copy number variation ,inflammation ,Acquired immune system ,medicine.disease ,3. Good health ,Beta defensin ,Neurology (clinical) ,Age of onset ,030217 neurology & neurosurgery - Abstract
Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammations is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.
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- 2013
10. Discrepancies in reporting the CAG repeat lengths for Huntington's disease
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Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, Barth, K, Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi AC, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Hjermind, Le, Jakobsen, O, Stokholm, J, Hasholt, L, Nørremølle, A, Sørensen, Sa, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Uni, M, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Valeria Russo, C, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Piccininni, C, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudziñska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempoowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Suek, A, Krysa, W, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Rabasa Perez, M, Fenollar, M, García, R, Quiroga, Pp, Vázquez Rivera, S, Villanueva, C, Bascuñana, M, Fatás Ventura, M, García Ribas, G, García de Yébenes, J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga, M, Sánchez, V, Noguera Perea, F, Lorenza, F, Torres, Mm, Reinante, G, Vivancos Moreau, L, Barbera, Ma, Badenes Guia, D, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Tome Carruesco, G, Bas, J, Busquets, N, Calopa, M, Dalmau Elorza, M, Díez, C, López, A, Durán, S, Terol, S, Floriach Robert, M, Garzón Ruíz, B, González Casado, A, Haro Martínez, I, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Ruiz Idiago JM, Ruíz Vergara, M, Soriano García, S, Villa Riballo, A, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Bosca, M, Burguera, Ja, Garcia, Ac, Pålhagen, Se, Paucar, M, Svenningsson, P, Walldén Reza Soltani, T, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedroff, J, Esmaeilzadeh, M, Winnberg, E, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Barnes, K, Chu, C, Hobson, E, Jamieson, S, Markova, I, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Suida, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Tidswell, K., Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, and DE MICHELE, Giuseppe
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medicine.medical_specialty ,Concordance ,International Cooperation ,Diagnostic Errors/statistics & numerical data ,Nerve Tissue Proteins ,Guidelines as Topic ,Bioinformatics ,Sensitivity and Specificity ,Article ,Huntingtin Gene ,Huntington's disease ,Trinucleotide Repeats ,Internal medicine ,External quality assessment ,Genetics ,medicine ,Humans ,Nerve Tissue Proteins/genetics ,Diagnostic laboratory ,Genetic Testing ,Genetic Testing/methods/standards ,Allele ,Diagnostic Errors ,standard reference material ,Genetics (clinical) ,Alleles ,Huntingtin Protein ,ddc:618 ,business.industry ,international cooperation ,Nuclear Proteins ,Reproducibility of Results ,Reference Standards ,medicine.disease ,CAG repeat length ,Nuclear Proteins/genetics ,Huntington Disease ,Huntington Disease/diagnosis ,Mutation ,Medical genetics ,reproducibility of results ,mutation ,business ,Trinucleotide repeat expansion ,Huntington Disease/diagnosis/genetics ,Genetic Testing/methods - Abstract
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
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- 2012
11. K08 1993-2013: Two Decades of Predictive HD Testing at the Medical Genetics Service of the University Of Genoa
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Mandich, P., primary, Lamp, M., additional, Gulli, R., additional, Iacometti, A., additional, Marchese, R., additional, Gotta, F., additional, Abbruzzese, G., additional, and Ferrandes, G., additional
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- 2014
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12. Serum leptin level and restrained eating. Study with the Eating Disorder Inventory
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Adami, Giovanni, Campostano, A, Cella, F, and Ferrandes, G.
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- 2002
13. The contribution of art-therapy and physiotherapy as complementary therapies for bone marrow transplant patients during isolation: the Magnolia Project
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Agnese, A., Albarello, M., Lamparelli, T., Chiodi, S., Spinelli, S., Ferrandes, G., Roy, M. T., Luzzato, P., Lint, M. T., Gualandi, F., Bregante, S., Di Grazia, C., Raiola, A. M., alida dominietto, Occhini, D., Ibatici, A., and Bacigalupo, A.
14. L’edificio ipogeo di fronte all’Arco di Tito, pendici settentrionali del Palatino: alcuni aggiornamenti
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MEDRI, MAURA, A. Ferrandes, G. Pardini, and Medri, Maura
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Archeologia, Roma, Palatino, Giacomo Boni, casa repubblicana, servi publici - Abstract
Nell’isolato di fronte all’Arco di Tito, alle pendici nord del Palatino, si trova un edificio ipogeo di epoca tardo repubblicana, caratterizzato da piccole stanze allineate lungo corridoi e dotate di letti, all’interno del quale è compreso anche un balneum. Scavato da Giacomo Boni nel 1900, l’edificio fu poi edito per la prima volta da Giuseppe Lugli. Secondo l’interpretazione proposta da Lugli (Lugli 1947) e ripresa di recente da M. Antonietta Tomei (Tomei 1995), questo edificio sarebbe un lupanar, con annessa una caupona, ma l’ipotesi che si è ora accreditata vi riconosce gli alloggi servili della domus soprastante, che secondo l’interpretazione di Andrea Carandini va identificata con quella di M. Aemilius Scaurus il giovane, pr. 56 a.C. Nelle vicinanze, esistono altri edifici ipogei del tutto simili: alcuni noti da vecchi scavi nel Foro Boario e nel Foro Romano (Giu. Gatti 1901, Boni 1904); uno scoperto di recente nella zona dell’Argiletum (Nocera, Rinaldi 2013, Rinaldi c.s.). Altri due possibili confronti per questo raro tipo edilizio si trovano a Pozzuoli (Gialanella 1993) e a Narbonne (Solier 1973). Tuttavia, l’edificio palatino è il meglio conservato e offre la possibilità di osservare molti dettagli che possono meglio indirizzare l’interpretazione.
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- 2016
15. Analysis of incidents of violence in a large Italian hospital.
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Sossai D, Molina FS, Amore M, Ferrandes G, Sarcletti E, Biffa G, Accorsi S, Belvederi Murri M, Tomellini MJ, and Copello F
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- Adult, Aged, Female, Humans, Italy, Male, Middle Aged, Retrospective Studies, Time Factors, Workplace Violence trends, Young Adult, Hospitals, Workplace Violence statistics & numerical data
- Abstract
Introduction: An increase in the rate of non-fatal violence events, from 20.65/10,000 in 2012 to 22.81/10,000 in 2014, was observed at the IRCCS Ospedale Policlinico San Martino in Genoa., Objectives: To analyze the incidence and outcome of the phenomenon of violence, by identifying the type of aggressive event and the ward in which it occurred, assuming that the occurrence is evenly distributed and not only limited to the psychiatric or to the emergency department. The age and sex of both attackers and victims of aggression were also analyzed., Methods: Retrospective analysis: study of injury trends related to episodes of violence between 2012 and 2015, incidence compared to other injuries and evaluation of the direct costs. Observational staff surveys with a questionnaire based on the Overt Aggression Scale and statistical data analysis., Results: Following the aggressions, 36 injuries were identified over the study period (2012-2015), resulting in 431 days of absence from work. The direct estimated costs were € 64,170. The observational surveys of each ward showed a high concentration of events. Reports were received from 34 out of the 76 evaluated wards. Seventy-five percent of the reports concerned only four operative units: emergency room, intermediate care, psychiatry and geriatrics. Sixty-one percent of the questionnaires were filled out by nurses, 23% by support staff and the remaining 16% was provided by physicians and coordinators., Conclusions: Violence against healthcare workers is a well-known problem; action is required on the scheduling of activities, improvement of communication paths with users and the training of operators.
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- 2017
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16. 1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.
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Mandich P, Lamp M, Gotta F, Gulli R, Iacometti A, Marchese R, Bellone E, Abbruzzese G, and Ferrandes G
- Abstract
Background: Predictive testing for Huntington's disease has been available at the Medical Genetics Unit of the University of Genoa from 1987. In 1989, an integrated counseling protocol (geneticist, psychologist, and neurologist) was developed following International Guidelines., Methods: This is a retrospective analysis of the clinical charts and motivation questionnaires of persons seeking predictive testing through direct DNA analysis from 1993 until 2014, with the aim to evaluate their individual characteristics, motivations, and the outcomes of the counseling protocol., Results: A total of 299 persons (164 women, 135 men) applied for predictive testing. Most applicants' features and motivations were similar to those previously described, but surprisingly the percentage of completed protocols was higher among men, 68.5% versus 53.5% ( P = 0.011). Likewise, persons over 25 years of age were more likely to take the test than younger applicants (18-25 years): 63.4% versus 48.1% ( P = 0.043). In addition, relationship status, having children, and the gender of the affected parent showed different effects on the decision about testing in males and females. No catastrophic reactions were reported during the study period., Conclusions: We observed that factors influencing the decision-making process might differ between males and females, and that predictive testing appears a safe procedure if framed within an integrated counseling protocol.
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- 2017
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17. Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.
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Mandich P, Mantero V, Verdiani S, Gotta F, Caponnetto C, Bellone E, Ferrandes G, and Origone P
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- Amyotrophic Lateral Sclerosis prevention & control, Chromosome Aberrations, DNA Mutational Analysis, DNA-Binding Proteins genetics, Female, Genes, Dominant genetics, Humans, Male, Middle Aged, Pedigree, Phenotype, Siblings, Amyotrophic Lateral Sclerosis genetics, Genetic Counseling methods, Genetic Testing
- Abstract
Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic testing for ALS. The first patient died within 2 years of ALS onset, while her brother still manages to walk unaided, 7 years into onset. Genetic analyses, performed on the first patient as part of a research protocol, and as clinical genetic testing on the brother, provided different results. Results for Patient 1 were negative for all investigated genes, thus suggesting that her disease may be a phenocopy, while her brother carried an autosomal dominant TARDBP mutation (p.A382T). A multidisciplinary approach may help patients and clinicians face the emerging dilemmas in such a complex field. Sharing and updating of advances, not to mention uncertainties inherent to current knowledge, with patients and families may prove to be an effective way to support them and to make them aware of the present limits of our knowledge and of the blurred border between research and clinical practice.
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- 2015
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18. Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.
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Origone P, Caponnetto C, Bandettini Di Poggio M, Ghiglione E, Bellone E, Ferrandes G, Mancardi GL, and Mandich P
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- Aged, Aged, 80 and over, Amino Acid Sequence, Bacterial Proteins, Exons genetics, Family Health, Female, Genetic Variation, Humans, Introns genetics, Italy, Male, Middle Aged, Molecular Sequence Data, Pedigree, Phenotype, Amyotrophic Lateral Sclerosis genetics, DNA-Binding Proteins genetics, Genetic Counseling, Point Mutation
- Abstract
Objective: The present study was aimed to enlarge the Italian ALS sample analysed for TARDBP gene mutations., Methods: Genomic DNA from 47 patients, 70 FTD patients and 158 controls was extracted from peripheral blood samples according to a standard protocol. The five coding exons (2-6) of the TARDBP gene and the flanking exon-intron boundaries were analysed by direct sequencing. Using ClustalW2 human TDP-43, protein sequence was aligned with TDP-43 protein sequence of different species., Results: A heterozygous c.1178 C-->T transition that leads to a change p.S393L was observed in a 75-years-old male patient and in his two affected siblings. A patient's brother had died at 69 years of age after a two-year history of ALS. In FTD patients no mutations were found., Conclusions: We describe a further Italian family with FALS, in which a variant (p.S393L) of the TARDBP gene was identified. Clinical course and phenotypic variability in three affected siblings is presented and relevance for genetic counselling of patients and their families is underlined. At the present state of knowledge, we suggest that the same guidelines established for SOD1 molecular testing could be proposed also for TARDBP analysis in FALS.
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- 2010
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19. [Amyotrophic lateral sclerosis: an assessment of the needs of patients and caregivers in the Liguria region of Italy].
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Ferullo CM, Mascolo M, Ferrandes G, and Caponnetto C
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- Adaptation, Psychological, Adult, Amyotrophic Lateral Sclerosis diagnosis, Caregivers statistics & numerical data, Counseling methods, Decision Making, Female, Health Surveys, Humans, Italy, Male, Middle Aged, Patients statistics & numerical data, Professional-Family Relations, Self-Help Groups, Social Isolation psychology, Social Support, Stress, Psychological, Surveys and Questionnaires, Amyotrophic Lateral Sclerosis psychology, Caregivers psychology, Needs Assessment, Palliative Care, Patients psychology
- Abstract
Unlabelled: Two surveys were carried out to assess ALS patients and caregivers' care and treatment needs in Liguria Region mainly during the first stage of the disease. One inquiry concerned patients during their first year of illness--the other concerned caregivers during different stages of the disease, excepting the terminal one., Methods: A semistructured interview was given to 18 patients during first year from diagnosis. The Caregivers Needs Assessment questionnaire was administered to 27 caregivers during different phases of their parents' illness., Results: The clinical interview emphasized that the patients need to be prepared for the future. In spite of strong (75%), or uncontrolled (50%) emotional aspects, in our group an active and fighting attitude (45%) prevailed. Caregivers' needs appeared to be generally high for the whole group, they mainly requested to be enabled to meet the appropriate assistance, to be informed on the cure and to cooperate and be involved in decision taking. Needs for spiritual, psychological or self-help and support group were apparently little required but during the first year emotional and social support are more desired., Conclusion: This survey shows that the psychological support for such patients must be planned for each of them and trimmed upon their single peculiarities after a careful evaluation and enhancement of their capability in facing difficulties. Caregivers barely asked for personal help or support--rather they asked to be enabled to tackle the practical aspects of the disease and for an improved cooperation share with doctors.
- Published
- 2009
20. Serum leptin level and restrained eating: study with the Eating Disorder Examination.
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Adami G, Campostano A, Cella F, and Ferrandes G
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- Adolescent, Adult, Body Mass Index, Body Weight physiology, Female, Humans, Eating physiology, Feeding and Eating Disorders diagnosis, Feeding and Eating Disorders psychology, Leptin blood, Obesity blood, Obesity psychology
- Abstract
Serum leptin concentrations in obese patients are influenced at short-term by a reduction of food intake. The objective of this investigation was to evaluate the relationship between serum leptin level and eating behavior. The eating behavior and the food and shape attitudes of a group of obese women were assessed by the Eating Disorder Examination (EDE), and the subscale scores were correlated with serum leptin levels. No difference in serum leptin level was found between obese patients with binge eating disorder (BED) and their nonbingeing counterparts. Considering all patients, the serum leptin levels positively correlated with the body mass index values (BMI), and the EDE subscales scores were positively interrelated. After controlling for BMI, serum leptin level was negatively correlated with the EDE Restraint score and positively correlated with the EDE Shape Concern score. The findings of this investigation indicate that in obese women serum leptin level and the occurrence of binge eating are unrelated. Furthermore, this study also found that the relationship between serum leptin level and restraint over food intake observed in eating disordered patients and in overweight preadolescent girls is shared by obese adult women. In addition, the positive relationship between EDE Shape Concern and serum leptin concentration suggests that the restrained eating might be the cause rather the consequence of the low leptin production.
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- 2002
- Full Text
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