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TÍTULO: Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's Disease  Full Text
AUTORES: Rosa, AI; Duarte Silva, S; Silva Fernandes, A; Nunes, MJ; Carvalho, AN; Rodrigues, E; Gama, MJ; Rodrigues, CMP; Maciel, P; Castro Caldas, M;
PUBLICAÇÃO: 2018, FONTE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, NÚMERO: 12
INDEXADO EM: Scopus WOS CrossRef: 61
NO MEU: ORCID
62
TÍTULO: Identification of rare de novo epigenetic variations in congenital disorders
AUTORES: Barbosa, M; Joshi, RS; Garg, P; Martin Trujillo, A; Patel, N; Jadhav, B; Watson, CT; Gibson, W; Chetnik, K; Tessereau, C; Mei, H; De Rubeis, S; Reichert, J; Lopes, F; Vissers, LELM; Kleefstra, T; Grice, DE; Edelmann, L; Soares, G; Maciel, P; Brunner, HG; Buxbaum, JD; Gelb, BD; Sharp, AJ; ...Mais
PUBLICAÇÃO: 2018, FONTE: NATURE COMMUNICATIONS, VOLUME: 9, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 80
NO MEU: ORCID
63
TÍTULO: Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3  Full Text
AUTORES: Duarte Silva, S; Neves Carvalho, A; Soares Cunha, C; Silva, JM; Teixeira Castro, A; Vieira, R; Silva Fernandes, A; Maciel, P;
PUBLICAÇÃO: 2018, FONTE: MOVEMENT DISORDERS, VOLUME: 33, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef: 27 Handle
NO MEU: ORCID
64
TÍTULO: Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
AUTORES: Kyle K Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; Grace Schwartz; Rachel Nguyen; Elizabeth E Guerrero; Caroline Dias; Branko Aleksic; Richard Anney; Mafalda Barbosa; Somer Bishop; Alfredo Brusco; Jonas Bybjerg-Grauholm; Angel Carracedo; Marcus C.Y Chan; Andreas G Chiocchetti; Brian H Y Chung; Hilary Coon; Michael L Cuccaro; Aurora Currò; Bernardo Dalla Bernardina; Ryan Doan; Enrico Domenici; Shan Dong; Chiara Fallerini; Montserrat Fernández-Prieto; Giovanni Battista Ferrero; Christine M Freitag; Menachem Fromer; Jay J Gargus; Daniel Geschwind; Elisa Giorgio; Javier González-Peñas; Stephen Guter; Danielle Halpern; Emily Hansen-Kiss; Xin He; Gail E Herman; Irva Hertz-Picciotto; David M Hougaard; Christina M Hultman; Iuliana Ionita-Laza; Suma Jacob; Jesslyn Jamison; Astanand Jugessur; Miia Kaartinen; Gun Peggy Knudsen; Alexander Kolevzon; Itaru Kushima; So Lun Lee; Terho Lehtimäki; Elaine T Lim; Carla Lintas; Ian I Lipkin; Diego Lopergolo; Fátima Lopes; Yunin Ludena; Patricia Maciel; Per Magnus; Behrang Mahjani; Nell Maltman; Dara S Manoach; Gal Meiri; Idan Menashe; Judith Miller; Nancy Minshew; Eduarda Montenegro M de Souza; Danielle Moreira; Eric M Morrow; Ole Mors; Preben Bo Mortensen; Matthew Mosconi; Pierandrea Muglia; Benjamin Neale; Merete Nordentoft; Norio Ozaki; Aarno Palotie; Mara Parellada; Maria Rita Passos-Bueno; Margaret Pericak-Vance; Antonio Persico; Isaac Pessah; Kaija Puura; Abraham Reichenberg; Alessandra Renieri; Evelise Riberi; Elise B Robinson; Kaitlin E Samocha; Sven Sandin; Susan L Santangelo; Gerry Schellenberg; Stephen W Scherer; Sabine Schlitt; Rebecca Schmidt; Lauren Schmitt; Isabela Maya W Silva; Tarjinder Singh; Paige M Siper; Moyra Smith; Gabriela Soares; Camilla Stoltenberg; Pål Suren; Ezra Susser; John Sweeney; Peter Szatmari; Lara Tang; Flora Tassone; Karoline Teufel; Elisabetta Trabetti; Maria del Pilar Trelles; Christopher Walsh; Lauren A Weiss; Thomas Werge; Donna Werling; Emilie M Wigdor; Emma Wilkinson; Jeremy A Willsey; Tim Yu; Mullin H.C Yu; Ryan Yuen; Elaine Zachi; Catalina Betancur; Edwin H Cook; Louise Gallagher; Michael Gill; James S Sutcliffe; Audrey Thurm; Michael E Zwick; Anders D Børglum; Matthew W State; Ercument E Cicek; Michael E Talkowski; David J Cutler; Bernie Devlin; Stephan J Sanders; Kathryn Roeder; Mark J Daly; Joseph D Buxbaum; ...Mais
PUBLICAÇÃO: 2018
INDEXADO EM: CrossRef: 27
NO MEU: ORCID
65
TÍTULO: Further delineation of a novel 2q11.1q11.2 micro-duplication syndrome  Full Text
AUTORES: Azzarello Burri, S; Joset, P; Andrieux, J; Lopes, F; Palmer, E; Czeschik, J; Demeer, B; Duque, F; Kuechler, A; Maciel, P; Hackenberg, A; Oneda, B; Rauch, A;
PUBLICAÇÃO: 2018, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26
INDEXADO EM: WOS
NO MEU: ORCID
66
TÍTULO: Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3
AUTORES: Rodriguez Cueto, C; Hernandez Galvez, M; Hillard, CJ; Maciel, P; Valdeolivas, S; Ramos, JA; Gomez Ruiz, M; Fernandez Ruiz, J;
PUBLICAÇÃO: 2017, FONTE: PLOS ONE, VOLUME: 12, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef: 6
NO MEU: ORCID
67
TÍTULO: Revalorisation of rapeseed pomace (RSP): A study into antioxidant and DNA protective properties (in vitro) of a RSP extract and its effects on neurodegenerative disease C-elegans models  Full Text
AUTORES: Pohl, F; Goua, M; Bermano, G; Russell, WR; Scobbie, L; Maciel, P; Teixeira Castro, A; Lin, PKT;
PUBLICAÇÃO: 2017, FONTE: Joint Conference of the 5th International Conference on the Mechanism of Action of Nutraceuticals (ICMAN) / Meeting of the Natural-Products-Section of the International-Union-of-Basic-and-Clinical-Pharmacology (IUPHAR) in BIOCHEMICAL PHARMACOLOGY, VOLUME: 139
INDEXADO EM: WOS CrossRef
NO MEU: ORCID
68
TÍTULO: Epimutations as a novel cause of congenital disorders  Full Text
AUTORES: Mafalda Barbosa; Ricky Joshi; Paras Garg; Nihir Patel; William Gibson; Corey Watson; Alejandro Martin; Fatima Lopes; Lisenka Vissers; Silvia de Rubeis; Jennifer Reichert; Patricia Maciel; Tjitske Kleefstra; Han G Brunner; Joseph D Buxbaum; Bruce Gelb; Andrew J Sharp;
PUBLICAÇÃO: 2017, FONTE: MOLECULAR CYTOGENETICS, VOLUME: 10
INDEXADO EM: WOS
NO MEU: ORCID
69
TÍTULO: Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
AUTORES: Lopes, F; Soares, G; Gonsalves Rocha, M; Pinto Basto, J; Maciel, P;
PUBLICAÇÃO: 2017, FONTE: FRONTIERS IN GENETICS, VOLUME: 8
INDEXADO EM: WOS
NO MEU: ORCID
70
TÍTULO: Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease
AUTORES: Lopes, F; Soares, G; Gonçalves Rocha, M; Pinto Basto, J; Maciel, P;
PUBLICAÇÃO: 2017, FONTE: Frontiers in Genetics, VOLUME: 8, NÚMERO: OCT
INDEXADO EM: Scopus CrossRef: 17
NO MEU: ORCID
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