21
TITLE: Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease  Full Text
AUTHORS: Almeida, Filipa; Ferreira, Ildete L.; Naia, Luana; Marinho, Daniela; Vilaca Ferreira, Ana Catarina; Costa, Marta D.; Duarte Silva, Sara; Maciel, Patricia; Rego, A. Cristina;
PUBLISHED: 2023, SOURCE: CELLS, VOLUME: 12, ISSUE: 19
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
22
TITLE: Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing  Full Text
AUTHORS: Raposo, Mafalda; Bettencourt, Conceicao; Melo, Ana Rosa Vieira; Ferreira, Ana F. ; Alonso, Isabel; Silva, Paulo; Vasconcelos, Joao; Kay, Teresa; Saraiva Pereira, Maria Luiza; Costa, Marta D.; Vilasboas Campos, Daniela; Bettencourt, Bruno Filipe; Bruges Armas, Jacome; Houlden, Henry; Heutink, Peter; Jardim, Laura Bannach; Sequeiros, Jorge; Maciel, Patricia; Lima, Manuela;
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 162
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
23
TITLE: Profiling Microglia in a Mouse Model of Machado-Joseph Disease
AUTHORS: Campos, AB; Duarte Silva, S; Fernandes, B; das Neves, SP; Marques, F; Teixeira Castro, A; Neves Carvalho, A; Monteiro Fernandes, D; Portugal, CC; Socodato, R; Summavielle, T ; Ambrosio, AF; Relvas, JB ; Maciel, P;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
24
TITLE: Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D-2 and Serotonin 1A and 2A Receptors in C. elegans
AUTHORS: Jalles, A; Vieira, C; Pereira Sousa, J; Vilasboas Campos, D; Mota, AF; Vasconcelos, S; Ferreira Lomba, B; Costa, MD; Da Silva, JD; Maciel, P; Teixeira Castro, A;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
25
TITLE: Modifier pathways in polyglutamine (PolyQ) diseases: from genetic screens to drug targets  Full Text
AUTHORS: Costa, Marta Daniela; Maciel, Patricia;
PUBLISHED: 2022, SOURCE: CELLULAR AND MOLECULAR LIFE SCIENCES, VOLUME: 79, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
26
TITLE: Microglial Depletion Has No Impact on Disease Progression in a Mouse Model of Machado-Joseph Disease  Full Text
AUTHORS: Campos, Ana Bela; Duarte Silva, Sara; Fernandes, Bruno; Coimbra, Barbara; Campos, Jonas; Monteiro Fernandes, Daniela; Teixeira Castro, Andreia; Ambrosio, Antonio Francisco; Maciel, Patricia;
PUBLISHED: 2022, SOURCE: CELLS, VOLUME: 11, ISSUE: 13
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
27
TITLE: Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3
AUTHORS: Mayoral Palarz, Kristin; Neves Carvalho, Andreia; Duarte Silva, Sara; Monteiro Fernandes, Daniela; Maciel, Patricia; Khodakhah, Kamran;
PUBLISHED: 2022, SOURCE: DISEASE MODELS & MECHANISMS, VOLUME: 15, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
28
TITLE: Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
AUTHORS: Jack M Fu; Kyle K Satterstrom; Minshi Peng; Harrison Brand; Ryan L Collins; Shan Dong; Brie Wamsley; Lambertus Klei; Lily Wang; Stephanie P Hao; Christine R Stevens; Caroline Cusick; Mehrtash Babadi; Eric Banks; Brett Collins; Sheila Dodge; Stacey B Gabriel; Laura Gauthier; Samuel K Lee; Lindsay Liang; Alicia Ljungdahl; Behrang Mahjani; Laura Sloofman; Andrey N Smirnov; Mafalda Barbosa; Catalina Betancur; Alfredo Brusco; Brian H Y Chung; Edwin H Cook; Michael L Cuccaro; Enrico Domenici; Giovanni Battista Ferrero; Jay J Gargus; Gail E Herman; Irva Hertz Picciotto; Patricia Maciel; Dara S Manoach; Maria Rita Passos Bueno; Antonio M Persico; Alessandra Renieri; James S Sutcliffe; Flora Tassone; Elisabetta Trabetti; Gabriele Campos; Simona Cardaropoli; Diana Carli; Marcus C Y Chan; Chiara Fallerini; Elisa Giorgio; Ana Cristina Girardi; Emily Hansen Kiss; So Lun Lee; Carla Lintas; Yunin Ludena; Rachel Nguyen; Lisa Pavinato; Margaret Pericak Vance; Isaac N Pessah; Rebecca J Schmidt; Moyra Smith; Claudia I S Costa; Slavica Trajkova; Jaqueline Y T Wang; Mullin H C Yu; Branko Aleksic; Mykyta Artomov; Elisa Benetti; Monica Biscaldi Schafer; Anders D Børglum; Angel Carracedo; Andreas G Chiocchetti; Hilary Coon; Ryan N Doan; Montserrat Fernández Prieto; Christine M Freitag; Sherif Gerges; Stephen Guter; David M Hougaard; Christina M Hultman; Suma Jacob; Miia Kaartinen; Alexander Kolevzon; Itaru Kushima; Terho Lehtimäki; Caterina Lo Rizzo; Nell Maltman; Marianna Manara; Gal Meiri; Idan Menashe; Judith Miller; Nancy Minshew; Matthew Mosconi; Norio Ozaki; Aarno Palotie; Mara Parellada; Kaija Puura; Abraham Reichenberg; Sven Sandin; Stephen W Scherer; Sabine Schlitt; ...More
PUBLISHED: 2022, SOURCE: NATURE GENETICS, VOLUME: 54, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 208
IN MY: ORCID
29
TITLE: Pre-clinical study of a 5HT1A specific agonist in the CMVMJD135 mouse model of Machado-Joseph disease  Full Text
AUTHORS: Guerreiro, Sara; Ferreira Lomba, Bruna; Cunha Garcia, Daniela; Duarte Silva, Sara; Teixeira Castro, Andreia; Vilasboas Campos, Daniela; Vidinha Mira, Andre; Newman Tancredi, Adrian; Kleven, Mark S.; Maciel, Patricia;
PUBLISHED: 2022, SOURCE: JOURNAL OF NEUROCHEMISTRY, VOLUME: 162
INDEXED IN: WOS
IN MY: ORCID
30
TITLE: Integration of behavior and neuronal physiology in a mouse model of Rett Syndrome: a focus on serotonergic system modulation  Full Text
AUTHORS: Monteiro Fernandes, Daniela; Guerreiro, Sara; Gomes, Ana; Domingues, Ana Veronica; Soares Cunha, Carina; Coimbra, Barbara; Santos, Alexandre; Newman Tancredi, Adrian; Kleven, Mark; Rodrigues, Ana Joao; Duarte Silva, Sara; Maciel, Patricia;
PUBLISHED: 2022, SOURCE: JOURNAL OF NEUROCHEMISTRY, VOLUME: 162
INDEXED IN: WOS
IN MY: ORCID
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