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TITLE: Contribution of autosomal rare and de novo variants to sex differences in autism
AUTHORS: Mahmoud Koko; Kyle K Satterstrom; Kyle K Satterstrom; Branko Aleksic; Mykyta Artomov; Mafalda Barbosa; Elisa Benetti; Catalina Betancur; Monica Biscaldi Schafer; Anders D Børglum; Harrison Brand; Alfredo Brusco; Joseph D Buxbaum; Gabriele Campos; Simona Cardaropoli; Diana Carli; Angel Carracedo; Marcus C Y Chan; Andreas G Chiocchetti; Brian H Y Chung; Brett Collins; Ryan L Collins; Edwin H Cook; Hilary Coon; Claudia I S Costa; Michael L Cuccaro; David J Cutler; Mark J Daly; Silvia De Rubeis; Bernie Devlin; Ryan N Doan; Enrico Domenici; Shan Dong; Chiara Fallerini; Montserrat Fernández Prieto; Giovanni Battista Ferrero; Christine M Freitag; Jack M Fu; Jay J Gargus; Sherif Gerges; Elisa Giorgio; Ana Cristina Girardi; Stephen Guter; Emily Hansen Kiss; Gail E Herman; Irva Hertz Picciotto; David M Hougaard; Christina M Hultman; Suma Jacob; Miia Kaartinen; Lambertus Klei; Alexander Kolevzon; Itaru Kushima; So Lun Lee; Terho Lehtimäki; Lindsay Liang; Carla Lintas; Alicia Ljungdahl; Caterina Lo Rizzo; Yunin Ludena; Patricia Maciel ; Behrang Mahjani; Nell Maltman; Marianna Manara; Dara S Manoach; Gal Meiri; Idan Menashe; Judith Miller; Nancy Minshew; Matthew Mosconi; Rachel Nguyen; Norio Ozaki; Aarno Palotie; Mara Parellada; Maria Rita Passos Bueno; Lisa Pavinato; Minshi Peng; Margaret Pericak Vance; Antonio M Persico; Isaac N Pessah; Kaija Puura; Abraham Reichenberg; Alessandra Renieri; Kathryn Roeder; Stephan J Sanders; Sven Sandin; Stephen W Scherer; Sabine Schlitt; Rebecca J Schmidt; Lauren Schmitt; Katja Schneider Momm; Paige M Siper; Laura Sloofman; Moyra Smith; Christine R Stevens; Pål Suren; James S Sutcliffe; John A Sweeney; Michael E Talkowski; Flora Tassone; ...More
PUBLISHED: 2025, SOURCE: American Journal of Human Genetics, VOLUME: 112, ISSUE: 3

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TITLE: Rescue of respiratory and cognitive impairments in Rett Syndrome mice using NLX-101, a selective 5-HT1A receptor biased agonist Full Text
AUTHORS: Daniela Monteiro Fernandes; Ian Charles; Sara Guerreiro; Daniela Cunha Garcia; Joana Pereira Sousa; Stéphanie Oliveira; Andreia Teixeira Castro; Mark Varney; Mark Kleven; Adrian Newman Tancredi; Ana P Sheikh Abdala; Sara Duarte Silva; Patrícia Maciel ;
PUBLISHED: 2025, SOURCE: Biomedicine and Pharmacotherapy, VOLUME: 186

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TITLE: Computational Approaches for the Automatic Quantification of Cells from Brain Images
AUTHORS: Lopes, Diogo; Campos, Ana Bela; Maciel, Patricia ; Paulo Novais ; Fernandes, Bruno;
PUBLISHED: 2024, SOURCE: 11st World Conference on Information Systems and Technologies (WorldCIST) in INFORMATION SYSTEMS AND TECHNOLOGIES, VOL 1, WORLDCIST 2023, VOLUME: 799

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TITLE: Differential impact of diesel exhaust particles on glutamatergic and dopaminergic neurons in Caenorhabditis elegans : A neurodegenerative perspective Full Text
AUTHORS: Chatterjee, Nivedita; Gonzalez Durruthy, Michael; Costa, Marta Daniela; Ribeiro, Ana R.; Vilas Boas, Vania; Vilasboas Campos, Daniela; Maciel, Patricia ; Alfaro Moreno, Ernesto;
PUBLISHED: 2024, SOURCE: ENVIRONMENT INTERNATIONAL, VOLUME: 186

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TITLE: Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3
AUTHORS: Sara Duarte-Silva; Jorge Diogo Da Silva; Daniela Monteiro-Fernandes; Marta Daniela Costa; Andreia Neves-Carvalho; Mafalda Raposo; Carina Soares-Cunha; Joana S Correia; Gonçalo Nogueira-Goncalves; Henrique S Fernandes; Stephanie Oliveira; Ana Rita Ferreira-Fernandes; Fernando Rodrigues; Joana Pereira-Sousa; Daniela Vilasboas-Campos; Sara Guerreiro; Jonas Campos; Liliana Meireles-Costa; Cecilia M.P Rodrigues ; Stephanie Cabantous; Sergio F Sousa; Manuela Lima ; Andreia Teixeira-Castro; Patricia Maciel ; ...More
PUBLISHED: 2024, SOURCE: Journal of Clinical Investigation, VOLUME: 134, ISSUE: 5

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TITLE: Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3
AUTHORS: Duarte Silva, Sara; Silva, Jorge Diogo Da; Monteiro Fernandes, Daniela; Costa, Marta Daniela; Neves Carvalho, Andreia; Raposo, Mafalda; Soares Cunha, Carina; Correia, Joana S.; Nogueira Goncalves, Goncalo; Fernandes, Henrique S.; Oliveira, Stephanie; Ferreira Fernandes, Ana Rita; Rodrigues, Fernando; Pereira Sousa, Joana; Vilasboas Campos, Daniela; Guerreiro, Sara; Campos, Jonas; Meireles Costa, Liliana; Rodrigues, Cecilia M. P.; Cabantous, Stephanie; Sousa, Sergio F.; Lima, Manuela; Teixeira Castro, Andreia; Maciel, Patricia ; ...More
PUBLISHED: 2024, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 134, ISSUE: 5

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TITLE: In vitro and in vivo evaluation of novel chromeno[2,3-d]pyrimidinones as therapeutic agents for triple negative breast cancer
AUTHORS: Carvalho, Luisa; de Lima, Fabio Pedroso; Cerqueira, Monica; Silva, Ana; Pontes, Olivia; Oliveira Pinto, Sofia; Guerreiro, Sara; Costa, Marta D.; Granja, Sara; Maciel, Patricia ; Longatto Filho, Adhemar; Baltazar, Fatima; Proenca, Fernanda; Costa, Marta;
PUBLISHED: 2024, SOURCE: RSC MEDICINAL CHEMISTRY, VOLUME: 15, ISSUE: 4

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TITLE: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3'-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis Full Text
AUTHORS: Chatterjee, A; Saha, S; Chakraborty, A; Silva Fernandes, A ; Mandal, SM; Neves Carvalho, A; Liu, YP; Pandita, RK; Hegde, ML; Hegde, PM; Boldogh, I; Ashizawa, T; Koeppen, AH; Pandita, TK; Maciel, P; Sarkar, PS ; Hazra, TK;
PUBLISHED: 2024, SOURCE: PLOS GENETICS, VOLUME: 20, ISSUE: 1

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TITLE: ASSESSING THE HPA-AXIS MEDIATED STRESS RESPONSES IN A MOUSE MODEL OF SCA3
AUTHORS: Joana Sofia Correia; Daniela Monteiro-Fernandes; Sara Guerreiro; Bruna Ferreira-Lomba; Daniela Cunha-Garcia; Patrícia Gomes; Sara Duarte-Silva; Patrícia Maciel ;
PUBLISHED: 2023, SOURCE: IBRO Neuroscience Reports, VOLUME: 15

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