81
TITLE: Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells
AUTHORS: Andreia Neves Carvalho; Elsa Logarinho; Ana Freitas; Sara Duarte Silva; Maria do Carmo Costa; Anabela Silva Fernandes; Margarida Martins; Sofia Cravino Serra; Andre T Lopes; Henry L Paulson; Peter Heutink; Joao B Relvas ; Patricia Maciel;
PUBLISHED: 2015, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID
82
TITLE: Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. NOVEL BLOOD-BASED BIOMARKERS OF MJD/SCA3
AUTHORS: Raposo, M; Bettencourt, C; Maciel, P; Gao, F; Ramos, A; Kazachkova, N; Vasconcelos, J; Kay, T; Rodrigues, AJ; Bettencourt, B; Bruges Armas, J; Geschwind, D; Coppola, G; Lima, M;
PUBLISHED: 2015, SOURCE: MOVEMENT DISORDERS, VOLUME: 30, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
83
TITLE: Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene  Full Text
AUTHORS: Vieira, JP; Lopes, F; Silva Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenco, T; Maciel, P;
PUBLISHED: 2015, SOURCE: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 46
INDEXED IN: Scopus WOS
IN MY: ORCID
84
TITLE: Institutionalization and indiscriminate social behavior: Differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes  Full Text
AUTHORS: Mesquita, AR; Belsky, J; Li, Z; Baptista, J; Carvalho Correia, E; Maciel, P; Soares, I;
PUBLISHED: 2015, SOURCE: PHYSIOLOGY & BEHAVIOR, VOLUME: 152
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
85
TITLE: Redefining the MED13L syndrome
AUTHORS: Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Bjorn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; Joao Silva; Gabriela Soares; Fatima Lopes; Hossein Najmabadi; Kimia Kahrizi; Gerald F Cox; Steven P Angus; John F Staropoli; Ute Fischer; Vanessa Suckow; Oliver Bartsch; Andrew Chess; Hans Hilger Ropers; Thomas F Wienker; Christoph Hubner; Angela M Kaindl; Vera M Kalscheuer; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
86
TITLE: Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease  Full Text
AUTHORS: Esteves, S; Duarte Silva, S; Naia, L; Neves Carvalho, A; Teixeira Castro, A; Rego, AC; Silva Fernandes, A; Maciel, P;
PUBLISHED: 2015, SOURCE: PLOS ONE, VOLUME: 10, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
87
TITLE: Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease  Full Text
AUTHORS: Teixeira Castro, A; Jalles, A; Esteves, S; Kang, S; Santos, LD; Silva Fernandes, A; Neto, MF; Brielmann, RM; Bessa, C; Duarte Silva, S; Miranda, A; Oliveira, S; Neves Carvalho, A; Bessa, J; Summavielle, T; Silverman, RB; Oliveira, P ; Morimoto, RI; Maciel, P;
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
88
TITLE: Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene  Full Text
AUTHORS: José Pedro Vieira; Fátima Lopes; Anabela Silva-Fernandes; Maria Vânia Sousa; Sofia Moura; Susana Sousa; Bruno M Costa; Mafalda Barbosa; Bauke Ylstra; Teresa Temudo; Teresa Lourenço; Patrícia Maciel;
PUBLISHED: 2015, SOURCE: International Journal of Developmental Neuroscience, VOLUME: 46
INDEXED IN: CrossRef
IN MY: ORCID
89
TITLE: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing  Full Text
AUTHORS: Fatima Lopes; Mafalda Barbosa; Teresa Temudo; Joaquim de Sa; Ana Isabel Dias; Guiomar Oliveira; Pedro Cabra; Eulalia Calado; Isabel Fineza Cruz; Gabriela Soares; Jose Pedro Vieira; Maria Margarida Venancio; Renata Oliveira; Inger Jonasson; Adam Ameur; Dalila Pinto; Ulf Gyllensten; Patricia Maciel;
PUBLISHED: 2015, SOURCE: Joint Meeting of the 20th Biennial Meeting of the International-Society-for-Developmental-Neuroscience / 5th Annual NeuroDevNet Brain Development Conference in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 47
INDEXED IN: WOS CrossRef
IN MY: ORCID
90
TITLE: Lack of H3K4 demethylase rbr-2/KDM5C leads to GABA-related behavioral defects in C. elegans  Full Text
AUTHORS: Rodrigues, AJ; Bessa, C; Marques, F; Pereira, F; Amorim, A; Lopes, F; Maciel, P;
PUBLISHED: 2015, SOURCE: Joint Meeting of the 20th Biennial Meeting of the International-Society-for-Developmental-Neuroscience / 5th Annual NeuroDevNet Brain Development Conference in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 47
INDEXED IN: WOS CrossRef
IN MY: ORCID
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