Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 83



1
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
2
TITLE: Patterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease
AUTHORS: Kazachkova, N ; Raposo, M; Montiel, R; Cymbron, T ; Bettencourt, C; Silva Fernandes, A ; Silva, S; Maciel, P ; Lima, M ;
PUBLISHED: 2013, SOURCE: NEURODEGENERATIVE DISEASES, VOLUME: 11, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
3
TITLE: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2  Full Text
AUTHORS: Jiadi Wen; Fatima Lopes; Gabriela Soares; Sandra A Farrell; Cara Nelson; Ying Qiao; Sally Martell; Chansonette Badukke; Carlos Bessa ; Bauke Ylstra; Suzanne Lewis; Nina Isoherranen; Patricia Maciel ; Evica Rajcan Separovic;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID
4
5
TITLE: Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool  Full Text
AUTHORS: Baptista, MS; Duarte, CB ; Maciel, P ;
PUBLISHED: 2012, SOURCE: CELLULAR AND MOLECULAR LIFE SCIENCES, VOLUME: 69, ISSUE: 16
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
6
TITLE: Sequence Analysis of 5' Regulatory Regions of the Machado-Joseph Disease Gene (ATXN3)  Full Text
AUTHORS: Bettencourt, C; Raposo, M; Kazachkova, N ; Santos, C; Kay, T; Vasconcelos, J; Maciel, P ; Donis, KC; Saraiva Pereira, ML; Jardim, LB; Sequeiros, J ; Bruges Armas, J ; Lima, M ;
PUBLISHED: 2012, SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
7
TITLE: The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma  Full Text
AUTHORS: Carvalho, A; Cunha, C; Almeida, AJ; Osorio, NS ; Saraiva, M ; Teixeira Coelho, M; Pedreiro, S; Torrado, E ; Domingues, N; Gomes Alves, AG; Marques, A; Lacerda, JF; da Silva, MG; Gomes, M; Pinto, AC; Torres, F; Rendeiro, P; Tavares, P; Di Ianni, M; Rui Medeiros ; Heutink, P; Bracci, PM; Conde, L; Ludovico, P ; Pedrosa, J ; Maciel, P ; Pitzurra, L; Aversa, F; Marques, H ; Paiva, A; Skibola, CF; Romani, L; Castro, AG ; Rodrigues, F ; ...More
PUBLISHED: 2012, SOURCE: GENES AND IMMUNITY, VOLUME: 13, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 29 Handle
IN MY: ORCID
8
TITLE: Absence of Ataxin-3 Leads to Enhanced Stress Response in C. elegans  Full Text
AUTHORS: Rodrigues, AJ; Neves Carvalho, A; Teixeira Castro, A ; Rokka, A; Corthals, G; Logarinho, E ; Maciel, P ;
PUBLISHED: 2011, SOURCE: PLOS ONE, VOLUME: 6, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
9
TITLE: An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans
AUTHORS: Andreia Teixeira Castro ; Nuno Dias ; Pedro Rodrigues; Joao Filipe Oliveira ; Nuno F Rodrigues ; Patricia Maciel ; Joao L Vilaca ;
PUBLISHED: 2011, SOURCE: 5th International Conference on Practical Applications of Computational Biology and Bioinformatics in 5TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS (PACBB 2011), VOLUME: 93
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | ResearcherID
10
TITLE: Neuron-specific proteotoxicity of mutant ataxin-3 in C-elegans: rescue by the DAF-16 and HSF-1 pathways
AUTHORS: Teixeira Castro, A ; Ailion, M; Jalles, A; Brignull, HR; Vilaca, JL ; Dias, N ; Rodrigues, P; Oliveira, JF ; Neves Carvalho, A; Morimoto, RI; Maciel, P ;
PUBLISHED: 2011, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 20, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
Page 1 of 9. Total results: 83.

A place for researchers and their institutions

Useful Links

Get Help

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service