Patricia Espinheira Sá Maciel
AuthID: R-000-E14
71
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; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
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; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 10
72
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
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
73
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
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
74
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
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
75
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
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
WOS CrossRef76
TITLE: The disruption of proteostasis in neurodegenerative disorders
AUTHORS: Ana Jalles; Patricia Maciel;
PUBLISHED: 2015, SOURCE: AIMS MOLECULAR SCIENCE, VOLUME: 2, ISSUE: 3
AUTHORS: Ana Jalles; Patricia Maciel;
PUBLISHED: 2015, SOURCE: AIMS MOLECULAR SCIENCE, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS
WOS77
TITLE: Chronic Treatment with 17-DMAG Improves Balance and Coordination in A New Mouse Model of Machado-Joseph Disease
AUTHORS: Silva Fernandes, A; Duarte Silva, S; Neves Carvalho, A; Amorim, M; Soares Cunha, C; Oliveira, P ; Thirstrup, K; Teixeira Castro, A; Maciel, P;
PUBLISHED: 2014, SOURCE: NEUROTHERAPEUTICS, VOLUME: 11, ISSUE: 2
AUTHORS: Silva Fernandes, A; Duarte Silva, S; Neves Carvalho, A; Amorim, M; Soares Cunha, C; Oliveira, P ; Thirstrup, K; Teixeira Castro, A; Maciel, P;
PUBLISHED: 2014, SOURCE: NEUROTHERAPEUTICS, VOLUME: 11, ISSUE: 2
78
TITLE: Lithium Chloride Therapy Fails to Improve Motor Function in a Transgenic Mouse Model of Machado-Joseph Disease Full Text
AUTHORS: Duarte Silva, S; Neves Carvalho, A; Soares Cunha, C; Teixeira Castro, A; Oliveira, P ; Silva Fernandes, A; Maciel, P;
PUBLISHED: 2014, SOURCE: CEREBELLUM, VOLUME: 13, ISSUE: 6
AUTHORS: Duarte Silva, S; Neves Carvalho, A; Soares Cunha, C; Teixeira Castro, A; Oliveira, P ; Silva Fernandes, A; Maciel, P;
PUBLISHED: 2014, SOURCE: CEREBELLUM, VOLUME: 13, ISSUE: 6
79
TITLE: Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado-Joseph Disease (MJD/SCA3) Full Text
AUTHORS: Ramos, A; Kazachkova, N; Silva, F; Maciel, P; Silva Fernandes, A; Duarte Silva, S; Santos, C; Lima, M;
PUBLISHED: 2014, SOURCE: Journal of Molecular Neuroscience, VOLUME: 55, ISSUE: 2
AUTHORS: Ramos, A; Kazachkova, N; Silva, F; Maciel, P; Silva Fernandes, A; Duarte Silva, S; Santos, C; Lima, M;
PUBLISHED: 2014, SOURCE: Journal of Molecular Neuroscience, VOLUME: 55, ISSUE: 2
80
TITLE: Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells
AUTHORS: Neves-Carvalho, A; Logarinho, E; Freitas, A; Duarte-Silva, S; Costa, MdC; Silva-Fernandes, A; Martins, M; Serra, SC; Lopes, AT; Paulson, HL; Heutink, P; Relvas, JB ; Maciel, P;
PUBLISHED: 2014, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 1
AUTHORS: Neves-Carvalho, A; Logarinho, E; Freitas, A; Duarte-Silva, S; Costa, MdC; Silva-Fernandes, A; Martins, M; Serra, SC; Lopes, AT; Paulson, HL; Heutink, P; Relvas, JB ; Maciel, P;
PUBLISHED: 2014, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 1
