Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 185



81
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 | CIÊNCIAVITAE
82
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 | CIÊNCIAVITAE
83
TITLE: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3 '-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis  Full Text
AUTHORS: Arpita Chatterjee; Saikat Saha; Anirban Chakraborty; Anabela Silva Fernandes ; Santi M Mandal; Andreia Neves Carvalho; Yongping P Liu; Raj K Pandita; Muralidhar L Hegde; Pavana M Hegde; Istvan Boldogh; Tetsuo Ashizawa; Arnulf H Koeppen; Tej K Pandita; Patricia Maciel ; Partha S Sarkar; Tapas K Hazra;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
84
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 | CIÊNCIAVITAE
85
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 | CIÊNCIAVITAE
86
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
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID | CIÊNCIAVITAE
87
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
INDEXED IN: Scopus CrossRef
IN MY: ORCID | CIÊNCIAVITAE
88
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
INDEXED IN: CrossRef: 22
IN MY: ORCID | CIÊNCIAVITAE
89
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
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID | CIÊNCIAVITAE
90
TITLE: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients  Full Text
AUTHORS: Santen, GWE; Aten, E; Vulto van Silfhout, AT; Pottinger, C; van Bon, BWM; van Minderhout, IJHM; Snowdowne, R; van der Lans, CAC; Boogaard, M; Linssen, MML; Vijfhuizen, L; van der Wielen, MJR; Vollebregt, MJE; Breuning, MH; Kriek, M; van Haeringen, A; den Dunnen, JT; Hoischen, A; Clayton Smith, J; de Vries, BBA; Hennekam, RCM; van Belzen, MJ; Almureikhi, M; Baban, A; Barbosa, M; Ben Omran, T; Berry, K; Bigoni, S; Boute, O; Brueton, L; van der Burgt, I; Canham, N; Chandler, KE; Chrzanowska, K; Collins, AL; de Toni, T; Dean, J; den Hollander, NS; Flore, LA; Fryer, A; Gardham, A; Graham, JM; Harrison, V; Horn, D; Jongmans, MC; Josifova, D; Kant, SG; Kapoor, S; Kingston, H; Kini, U; Kleefstra, T; Krajewska-Walasek Malgorzata; Kramer, N; Maas, SM; Maciel, P ; Mancini Grazia M.S.; Maystadt, I; McKee, S; Milunsky, JM; Nampoothiri, S; Newbury Ecob, R; Nikkel, SM; Parker, MJ; Perez Jurado, LA; Robertson, SP; Rooryck, C; Shears, D; Silengo, M; Singh, A; Smigiel, R; Soares, G; Splitt, M; Stewart, H; Sweeney, E; Tassabehji, M; Temple, IK; Tuysuz, B; van Eerde, AM; Vincent Delorme, C; Wilson, LC; Yesil, G; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
Page 9 of 19. Total results: 185.

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