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TITLE: Genomic imbalances defining novel intellectual disability associated loci  Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Mafalda Barbosa; Joao Silva; Frederico Duque; Miguel Rocha; Joaquim Sa; Guiomar Oliveira; Maria Joao Sa ; Teresa Temudo; Susana Sousa; Carla Marques; Sofia Lopes; Catarina Gomes; Gisela Barros; Arminda Jorge; Felisbela Rocha; Cecilia Martins; Sandra Mesquita; Susana Loureiro; Elisa Maria Cardoso; Maria Jose Calix; Andreia Dias; Cristina Martins; Ceu R Mota; Diana Antunes; Juliette Dupont; Sara Figueiredo; Sonia Figueiroa; Susana Gama de Sousa; Sara Cruz; Adriana Sampaio; Paul Eijk; Marjan M Weiss; Bauke Ylstra; Paula Rendeiro; Purificacao Tavares; Margarida Reis Lima; Jorge Pinto Basto; Ana Maria Fortuna; Patricia Maciel; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS
32
TITLE: From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation
AUTHORS: Jorge Diogo Da Silva; Andreia Teixeira Castro; Patricia Maciel;
PUBLISHED: 2019, SOURCE: NEUROTHERAPEUTICS, VOLUME: 16, ISSUE: 4
INDEXED IN: Scopus WOS
33
TITLE: GST-4-Dependent Suppression of Neurodegeneration in C. elegans Models of Parkinson's and Machado-Joseph Disease by Rapeseed Pomace Extract Supplementation  Full Text
AUTHORS: Pohl, F; Teixeira Castro, A; Costa, MD; Lindsay, V; Fiuza Femandes, J; Goua, M; Germano, G; Russell, W; Maciel, P; Lin, PKT;
PUBLISHED: 2019, SOURCE: FRONTIERS IN NEUROSCIENCE, VOLUME: 13, ISSUE: OCT
INDEXED IN: Scopus WOS CrossRef: 5
34
TITLE: The contribution of 7q33 copy number variations for intellectual disability  Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Sally Ann Lynch; Arminda Jorge; Susana Sousa; Joao Silva; Paula Rendeiro; Purificacao Tavares; Ana Maria Fortuna; Patricia Maciel;
PUBLISHED: 2018, SOURCE: NEUROGENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: WOS
35
TITLE: Pharmacological Therapies for Machado-Joseph Disease
AUTHORS: Sara Duarte Silva; Patricia Maciel;
PUBLISHED: 2018, SOURCE: POLYGLUTAMINE DISORDERS, VOLUME: 1049
INDEXED IN: Scopus WOS
37
TITLE: Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3  Full Text
AUTHORS: Carmen Rodriguez Cueto; Mariluz Hernandez Galvez; Cecilia J Hillard; Patricia Maciel; Sara Valdeolivas; Jose A Ramos; Maria Gomez Ruiz; Javier Fernandez Ruiz;
PUBLISHED: 2017, SOURCE: PLOS ONE, VOLUME: 12, ISSUE: 4
INDEXED IN: Scopus WOS
38
TITLE: 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
AUTHORS: Franziska Pohl; Marie Goua; Giovanna Bermano; Wendy R Russell; Lorraine Scobbie; Patricia Maciel; Andreia Teixeira Castro; Paul Kong Thoo Lin;
PUBLISHED: 2017, SOURCE: 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
INDEXED IN: WOS
40
TITLE: Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
AUTHORS: Fatima Torres; Mafalda Barbosa; Patricia Maciel;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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