71
TITLE: Pre-Clinical Assessment of Mesenchymal Stem Cell-Based Therapies in Spinocerebellar Ataxia Type 3
AUTHORS: Andreia Neves-Carvalho; Bárbara Mendes-Pinheiro; Joana Sofia Correia; Joel Pires; Fábio Gabriel Teixeira; Nuno Silva; Rui Lima; Susana Monteiro; Sara Duarte-Silva; António J Salgado; Patrícia Maciel;
PUBLISHED: 2019, SOURCE: SSRN Electronic Journal
INDEXED IN: CrossRef
IN MY: ORCID
72
TITLE: Revalorisation of rapeseed pomace extracts: An in vitro study into its anti-oxidant and DNA protective properties
AUTHORS: Pohl, F; Goua, M; Bermano, G; Russell, WR; Scobbie, L; Maciel, P; Lin, PKT;
PUBLISHED: 2018, SOURCE: FOOD CHEMISTRY, VOLUME: 239
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID
73
TITLE: The contribution of 7q33 copy number variations for intellectual disability
AUTHORS: Lopes, F; Torres, F; Lynch, SA; Jorge, A; Sousa, S; Silva, J; Rendeiro, P; Tavares, P; Fortuna, AM; Maciel, P;
PUBLISHED: 2018, SOURCE: NEUROGENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
74
TITLE: Pharmacological Therapies for Machado-Joseph Disease
AUTHORS: Duarte Silva, S; Maciel, P;
PUBLISHED: 2018, SOURCE: POLYGLUTAMINE DISORDERS, VOLUME: 1049
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
75
TITLE: Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's Disease  Full Text
AUTHORS: Rosa, AI; Duarte Silva, S; Silva Fernandes, A; Nunes, MJ; Carvalho, AN; Rodrigues, E; Gama, MJ; Rodrigues, CMP; Maciel, P; Castro Caldas, M;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 61
IN MY: ORCID
76
TITLE: Identification of rare de novo epigenetic variations in congenital disorders
AUTHORS: 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; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 80
IN MY: ORCID
77
TITLE: Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3  Full Text
AUTHORS: Duarte Silva, S; Neves Carvalho, A; Soares Cunha, C; Silva, JM; Teixeira Castro, A; Vieira, R; Silva Fernandes, A; Maciel, P;
PUBLISHED: 2018, SOURCE: MOVEMENT DISORDERS, VOLUME: 33, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 27 Handle
IN MY: ORCID
78
TITLE: Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
AUTHORS: 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; ...More
PUBLISHED: 2018
INDEXED IN: CrossRef: 27
IN MY: ORCID
79
TITLE: Further delineation of a novel 2q11.1q11.2 micro-duplication syndrome  Full Text
AUTHORS: 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;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26
INDEXED IN: WOS
IN MY: ORCID
80
TITLE: Identification of rare de novo epigenetic variations in congenital disorders
AUTHORS: Mafalda Barbosa; Ricky S Joshi; Paras Garg; Alejandro Martin-Trujillo; Nihir Patel; Bharati Jadhav; Corey T Watson; William Gibson; Kelsey Chetnik; Chloe Tessereau; Hui Mei; Silvia De Rubeis; Jennifer Reichert; Fatima Lopes; Lisenka E.L.M Vissers; Tjitske Kleefstra; Dorothy E Grice; Lisa Edelmann; Gabriela Soares; Patricia Maciel; Han G Brunner; Joseph D Buxbaum; Bruce D Gelb; Andrew J Sharp; ...More
PUBLISHED: 2018
INDEXED IN: CrossRef
IN MY: ORCID
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