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Patricia Espinheira Sá Maciel
AuthID:
R-000-E14
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (71)
Review (6)
Note (2)
Letter (2)
Correction (1)
Proceedings Paper (1)
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Confirmed Publications: 83
31
TITLE:
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
AUTHORS:
Bettencourt, C; Fialho, RN; Santos, C; Montiel, R;
Bruges Armas, J
;
Maciel, P
;
Lima, M
;
PUBLISHED:
2008
,
SOURCE:
JOURNAL OF HUMAN GENETICS,
VOLUME:
53,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
Handle
IN MY:
ORCID
32
TITLE:
T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population
AUTHORS:
Carvalho, A;
Santos, M
;
Maciel, P
;
Rodrigues, F
;
PUBLISHED:
2008
,
SOURCE:
MULTIPLE SCLEROSIS,
VOLUME:
14,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
33
TITLE:
The C677T polymorphism in MTHFR is not associated with migraine in Portugal
Full Text
AUTHORS:
Ferro, A; Castro, MJ;
Lemos, C
;
Santos, M
;
Sousa, A
;
Pereira Monteiro, J
;
Sequeiros, J
;
Maciel, P
;
PUBLISHED:
2008
,
SOURCE:
DISEASE MARKERS,
VOLUME:
25,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
34
TITLE:
Abnormal movements in Rett syndrome are present before the regression period: A case study
Full Text
AUTHORS:
Teresa Temudo;
Patricia Maciel
;
Jorge Sequeiros
;
PUBLISHED:
2007
,
SOURCE:
MOVEMENT DISORDERS,
VOLUME:
22,
ISSUE:
15
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
35
TITLE:
An explanation for another familial case of Rett syndrome: maternal germline mosaicism
Full Text
AUTHORS:
Margarida Venancio; Monica Santos; Susana Aires Pereira;
Patricia Maciel
; Jorge M Saraiva;
PUBLISHED:
2007
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
15,
ISSUE:
8
INDEXED IN:
Scopus
WOS
IN MY:
ResearcherID
36
TITLE:
Evidence for abnormal early development in a mouse model of Rett syndrome
Full Text
AUTHORS:
Santos, M
;
Silva Fernandes, A
;
Oliveira, P
;
Nuno Sousa
;
Patricia Maciel
;
PUBLISHED:
2007
,
SOURCE:
GENES BRAIN AND BEHAVIOR,
VOLUME:
6,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
37
TITLE:
Functional genomics and biochemical characterization of the C-elegans orthologue of the Machado-Joseph disease protein ataxin-3
AUTHORS:
Ana Joao Rodrigues
; Giovanni Coppola;
Claudia Santos
;
Maria do Carmo Costa
;
Michael Ailion
;
Jorge Sequeiros
; Daniel H Geschwind;
Patricia Maciel
;
PUBLISHED:
2007
,
SOURCE:
FASEB JOURNAL,
VOLUME:
21,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
58
IN MY:
ORCID
|
ResearcherID
38
TITLE:
Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans (vol 179, pg 108, 2006)
Full Text
AUTHORS:
Maria Ban; David Booth; Robert Heard; Graeme Stewart; An Goris; Koen Vandenbroeck; Benedicte Dubois; Mikko Laaksonen; Jorma Ilonen; Mehdi Alizadeh; Gilles Edan; Marie Claude Babron; David Brassat; Michael Clanet; Isabelle Cournu Rebeix; Bertrand Fontaine; Gilbert Semana; Rene Goedde; Jorg Epplen; Alexandra Weber;
Carmen Infante Duarte;
Frauke Zipp;
Cecilia Rajda;
Krisztina Bencsik;
Laszlo Vecsei;
Shirley Heggarty;
Colin Graham;
Stanley Hawkins;
Maria Liguori;
Patricia Momigliano Richiardi;
Domenico Caputo;
Luigi M E Grimaldi;
Maurizio Leone;
Luca Massacesi;
Clara Milanese;
Marco Salvetti;
Giovani Savettieri;
Maria Trojano;
Bartosz Bielecki;
Marcin P Mycko;
Krzysztof Selmaj;
Monica Santos;
Patricia Maciel
;
Clara Pereira;
Ana Silva;
Berta Martins Silva
;
Francesca Coraddu;
Maria Giovanna Marrosu;
Eva Akesson;
Jan Hillert;
Pameli Datta;
Annette Oturai;
Hanne F Harbo;
Anne Spurkland;
Robert Goertsches;
Pablo Villoslada;
Mefkure Eraksoy;
Anke Hensiek;
Alastair Compston;
Efrosini Setakis;
Julia Gray;
Tai Wan Yeo;
Stephen Sawcer;
...More
PUBLISHED:
2007
,
SOURCE:
JOURNAL OF NEUROIMMUNOLOGY,
VOLUME:
189,
ISSUE:
1-2
INDEXED IN:
Scopus
WOS
IN MY:
ResearcherID
39
TITLE:
MECP2 coding sequence and 3 ' UTR variation in 172 unrelated autistic patients
Full Text
AUTHORS:
Ana M Coutinho;
Guiomar Oliveira
; Cecile Katz; Jinong N Feng; Jin Yan; Chunmei M Yang; Carla Marques; Assuncao Ataide;
Teresa S Miguel
; Luis Borges; Joana Ahneida;
Catarina Correia
; Antonio Currais; Celeste Bento;
Luisa Mota Vieira
; Teresa Temudo; Monica Santos;
Patricia Maciel
;
Steve S Sommer
;
Astrid M Vicente
;
PUBLISHED:
2007
,
SOURCE:
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS,
VOLUME:
144B,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
40
TITLE:
NEDD8: A new ataxin-3 interactor
Full Text
AUTHORS:
Ferro, A;
Carvalho, AL
;
Teixeira Castro, A
; Almeida, C; Tome, RJ;
Cortes, L
;
Rodrigues, AJ
;
Logarinho, E
;
Sequeiros, J
;
Macedo Ribeiro, S
;
Maciel, P
;
PUBLISHED:
2007
,
SOURCE:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH,
VOLUME:
1773,
ISSUE:
11
INDEXED IN:
Scopus
WOS
CrossRef
Handle
IN MY:
ORCID
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