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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat ExpansionCampuzano, Victoria ; Montermini, Laura ; Moltò, Maria Dolores ; Pianese, Luigi ; Cossée, Mireille ; Cavalcanti, Francesca ; Monros, Eugenia ; Rodius, François ; Duclos, Franck ; Monticelli, Antonella ; Zara, Federico ; Cañizares, Joaquin ; Koutnikova, Hana ; Bidichandani, Sanjay I. ; Gellera, Cinzia ; Brice, Alexis ; Trouillas, Paul ; De Michele, Giuseppe ; Filla, Alessandro ; De Frutos, Rosa ; Palau, Francisco ; Patel, Pragna I. ; Di Donato, Stefano ; Mandel, Jean-Louis ; Cocozza, Sergio ; Koenig, Michel ; Pandolfo, MassimoScience (American Association for the Advancement of Science), 1996-03, Vol.271 (5254), p.1423-1427 [Periódico revisado por pares]Washington, DC: American Society for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locusDe Michele, G ; Filla, A ; Cavalcanti, F ; Di Maio, L ; Pianese, L ; Castaldo, I ; Calabrese, O ; Monticelli, A ; Varrone, S ; Campanella, GJournal of neurology, neurosurgery and psychiatry, 1994-08, Vol.57 (8), p.977-979 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexesFilla, A ; De Michele, G ; Cavalcanti, F ; Perretti, A ; Santoro, L ; Barbieri, F ; D'Arienzo, G ; Campanella, GJournal of neurology, neurosurgery and psychiatry, 1990-08, Vol.53 (8), p.667-670 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Interactions of Dietary Whole-Grain Intake With Fasting Glucose- and Insulin-Related Genetic Loci in Individuals of European Descent: A meta-analysis of 14 cohort studiesNettleton, Jennifer A ; McKeown, Nicola M ; Kanoni, Stavroula ; Lemaitre, Rozenn N ; Hivert, Marie-France ; Ngwa, Julius ; van Rooij, Frank J.A ; Sonestedt, Emily ; Wojczynski, Mary K ; Ye, Zheng ; Tanaka, ToshDiabetes care, 2010-12, Vol.33 (12), p.2684-2691 [Periódico revisado por pares]Alexandria, VA: American Diabetes AssociationTexto completo disponível |
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Cardiovascular and Other Outcomes Postintervention With Insulin Glargine and Omega-3 Fatty Acids (ORIGINALE)Punthakee, Z ; Gerstein, HC ; Bosch, J ; Tyrwhitt, J ; Jung, H ; Lee, SF ; Lonn, E ; Marsden, T ; McKelvie, R ; McQueen, MJ ; Morillo, CA ; Yusuf, S ; Dagenais, GR ; Diaz, R ; Maggioni, AP ; Probstfield, J ; Ramachandran, A ; Riddle, MC ; Ryden, LE ; Badings, EA ; Birkeland, KI ; Cardona, E ; Commerford, P ; Davies, M ; Fodor, JG ; Gomis, R ; Hanefeld, M ; Hildebrandt, P ; Kacerovsky-Bielesz, G ; Keltai, M ; Lanas, F ; Lewis, BS ; Lopez-Jaramillo, P ; Marin-Neto, J ; Marre, M ; Mendoza, I ; Pan, CY ; Pirags, V ; Rosenstock, J ; Spinas, GA ; Sreenan, S ; Syvanne, M ; Yale, JFDiabetes care, 2016-05, Vol.39 (5), p.709-716 [Periódico revisado por pares]United States: American Diabetes AssociationTexto completo disponível |
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Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 DiabetesSTRAWBRIDGE, Rona J ; DUPUIS, Josée ; NICA, Alexandra ; WHEELER, Eleanor ; HAN CHEN ; VOIGHT, Benjamin F ; TANEERA, Jalal ; KANONI, Stavroula ; PEDEN, John F ; TURRINI, Fabiola ; GUSTAFSSON, Stefan ; ZABENA, Carina ; PROKOPENKO, Inga ; ALMGREN, Peter ; BARKER, David J. P ; BARNES, Daniel ; DENNISON, Elaine M ; ERIKSSON, Johan G ; ERIKSSON, Per ; EURY, Elodie ; FOLKERSEN, Lasse ; FOX, Caroline S ; FRAYLING, Timothy M ; BARKER, Adam ; GOEL, Anuj ; GU, Harvest F ; HORIKOSHI, Momoko ; ISOMAA, Bo ; JACKSON, Anne U ; JAMESON, Karen A ; KAJANTIE, Eero ; KERR-CONTE, Julie ; KUULASMAA, Teemu ; KUUSISTO, Johanna ; AHLQVIST, Emma ; LOOS, Ruth J. F ; JIAN'AN LUAN ; MAKRILAKIS, Konstantinos ; MANNING, Alisa K ; MARTINEZ-LARRAD, Maria Teresa ; NARISU, Narisu ; MANNILA, Maria Nastase ; OHRVIK, John ; OSMOND, Clive ; PASCOE, Laura ; RYBIN, Denis ; PAYNE, Felicity ; SAYER, Avan A ; SENNBLAD, Bengt ; SILVEIRA, Angela ; STANCAKOVA, Alena ; STIRRUPS, Kathy ; SWIFT, Amy J ; SYVÄNEN, Ann-Christine ; PETRIE, John R ; TRAVERS, Mary E ; BOUATIA-NAJI, Nabila ; DIMAS, Antigone SDiabetes (New York, N.Y.), 2011-10, Vol.60 (10), p.2624-2634 [Periódico revisado por pares]Alexandria, VA: American Diabetes AssociationTexto completo disponível |
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Material Type: Artigo
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Metabolically Healthy Obesity and High Carotid Intima-Media Thickness in Children and Adolescents: International Childhood Vascular Structure Evaluation ConsortiumZhao, Min ; López-Bermejo, Abel ; Caserta, Carmelo A ; Medeiros, Carla Campos Muniz ; Kollias, Anastasios ; Bassols, Judit ; Romeo, Elisabetta L ; Ramos, Thacira Dantas Almeida ; Stergiou, George S ; Yang, Lili ; Xargay-Torrent, Silvia ; Amante, Angela ; Gusmão, Tatianne Moura Estrela ; Grammatikos, Evangelos ; Zhang, Yuanyuan ; Prats-Puig, Anna ; de Carvalho, Danielle Franklin ; Yang, Liu ; Carreras-Badosa, Gemma ; Simões, Mônica de Oliveira ; Hou, Yaping ; Mas-Pares, Berta ; Shui, Wang ; Guo, Teng ; Wang, Mingming ; Chen, Hua ; Lou, Xiaohuan ; Zhang, Qian ; Zhang, Yanqing ; Bovet, Pascal ; Magnussen, Costan G ; Xi, BoDiabetes care, 2019-01, Vol.42 (1), p.119-125 [Periódico revisado por pares]United States: American Diabetes AssociationTexto completo disponível |