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Patricia Espinheira Sá Maciel
AuthID:
R-000-E14
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Document Source:
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Document Type:
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Article (71)
Review (6)
Note (2)
Letter (2)
Correction (1)
Proceedings Paper (1)
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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:
Nadiya Kazachkova
;
Mafalda Raposo
;
Rafael Montiel
;
Teresa Cymbron
;
Conceicao Bettencourt
;
Anabela Silva Fernandes
;
Sara Silva
;
Patricia Maciel
;
Manuela Lima
;
PUBLISHED:
2013
,
SOURCE:
NEURODEGENERATIVE DISEASES,
VOLUME:
11,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
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
TITLE:
Using C-elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders
Full Text
AUTHORS:
Carlos Bessa
;
Patricia Maciel
;
Ana Joao Rodrigues
;
PUBLISHED:
2013
,
SOURCE:
MOLECULAR NEUROBIOLOGY,
VOLUME:
48,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
32
IN MY:
ORCID
|
ResearcherID
5
TITLE:
Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool
Full Text
AUTHORS:
Marcio S Baptista
;
Carlos B Duarte
;
Patricia Maciel
;
PUBLISHED:
2012
,
SOURCE:
CELLULAR AND MOLECULAR LIFE SCIENCES,
VOLUME:
69,
ISSUE:
16
INDEXED IN:
Scopus
WOS
CrossRef
:
11
IN MY:
ORCID
|
ResearcherID
6
TITLE:
Sequence Analysis of 5' Regulatory Regions of the Machado-Joseph Disease Gene (ATXN3)
Full Text
AUTHORS:
Conceicao Bettencourt
;
Mafalda Raposo
;
Nadiya Kazachkova
;
Cristina Santos
;
Teresa Kay
; Joao Vasconcelos;
Patricia Maciel
; Karina C Donis; Maria Luiza Saraiva Pereira;
Laura B Jardim
;
Jorge Sequeiros
;
Jacome Bruges Armas
;
Manuela Lima
;
PUBLISHED:
2012
,
SOURCE:
CEREBELLUM,
VOLUME:
11,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
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
IN MY:
ORCID
|
ResearcherID
8
TITLE:
Absence of Ataxin-3 Leads to Enhanced Stress Response in C. elegans
Full Text
AUTHORS:
Ana Joao Rodrigues
;
Andreia Neves Carvalho
;
Andreia Teixeira Castro
; Anne Rokka;
Garry Corthals
;
Elsa Logarinho
;
Patricia Maciel
;
PUBLISHED:
2011
,
SOURCE:
PLOS ONE,
VOLUME:
6,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
23
IN MY:
ORCID
|
ResearcherID
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:
Andreia Teixeira Castro
;
Michael Ailion
;
Ana Jalles
;
Heather R Brignull
;
Joao L Vilaca
;
Nuno Dias
;
Pedro Rodrigues
;
Joao F Oliveira
;
Andreia Neves Carvalho
;
Richard I Morimoto
;
Patricia Maciel
;
PUBLISHED:
2011
,
SOURCE:
HUMAN MOLECULAR GENETICS,
VOLUME:
20,
ISSUE:
15
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
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