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António Jorge dos Santos Pereira de Sequeiros
AuthID:
R-000-23K
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (137)
Abstract (65)
Letter (12)
Review (6)
Proceedings Paper (5)
Article in Press (4)
Note (2)
Correction (2)
Editorial Material (2)
Biographical-Item (1)
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Confirmed Publications: 236
31
TITLE:
Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
AUTHORS:
Sandra Martins
; Bing Wen Soong;
Virginia C N Wong
; Paola Giunti;
Giovanni Stevanin
;
Laura P W Ranum
; Hidenao Sasaki;
Olaf Riess
; Shoji Tsuji;
Paula Coutinho
;
Amorim, Antonio
;
Jorge Sequeiros
; Garth A Nicholson;
PUBLISHED:
2012
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
69,
ISSUE:
6
INDEXED IN:
Scopus
WOS
CrossRef
:
18
IN MY:
ORCID
32
TITLE:
Population stratification may bias analysis of PGC-1 alpha as a modifier of age at Huntington disease motor onset
Full Text
AUTHORS:
Eliana Marisa Ramos
;
Jeanne C Latourelle
; Ji Hyun Lee; Tammy Gillis;
Jayalakshmi S Mysore
; Ferdinando Squitieri; Alba Di Pardo; Stefano Di Donato;
Michael R Hayden
; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis;
Estrella Gomez Tortosa
; Carmen Ayuso;
Oksana Suchowersky
;
Ronald J Trent
; Elizabeth McCusker;
Andrea Novelletto
; Marina Frontali;
Randi Jones;
Tetsuo Ashizawa
;
Samuel Frank
;
Marie Helene Saint Hilaire;
Steven M Hersch;
Herminia D Rosas
;
Diane Lucente
;
Madaline B Harrison;
Andrea Zanko;
Karen Marder;
James F Gusella
;
Jong Min Lee;
Isabel Alonso
;
Jorge Sequeiros
;
Richard H Myers;
Marcy E MacDonald;
...More
PUBLISHED:
2012
,
SOURCE:
HUMAN GENETICS,
VOLUME:
131,
ISSUE:
12
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
33
TITLE:
Quality Assessment of Genetic Counseling Process in the Context of Presymptomatic Testing for Late-Onset Disorders: A Thematic Analysis of Three Review Articles
AUTHORS:
Milena Paneque
;
Jorge Sequeiros
;
Heather Skirton
;
PUBLISHED:
2012
,
SOURCE:
GENETIC TESTING AND MOLECULAR BIOMARKERS,
VOLUME:
16,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
13
IN MY:
ORCID
34
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
35
TITLE:
Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations
Full Text
AUTHORS:
Joanne E Martindale; Sara Seneca; Stefan Wieczorek;
Jorge Sequeiros
;
PUBLISHED:
2012
,
SOURCE:
HUMAN MUTATION,
VOLUME:
33,
ISSUE:
9
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
36
TITLE:
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease
Full Text
AUTHORS:
Ji Hyun Lee; Jong Min Lee;
Eliana Marisa Ramos
; Tammy Gillis;
Jayalakshmi S Mysore
;
Shotaro Kishikawa
; Tiffany Hadzi; Audrey E Hendricks;
Michael R Hayden
; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Ferdinando Squitieri; Cinzia Gellera;
Estrella Gomez Tortosa
; Carmen Ayuso;
Oksana Suchowersky
; Ronald J Trent; Elizabeth McCusker;
Andrea Novelletto
;
Marina Frontali;
Randi Jones;
Tetsuo Ashizawa
;
Samuel Frank
;
Marie Helene Saint Hilaire;
Steven M Hersch;
Herminia D Rosas
;
Diane Lucente;
Madaline B Harrison;
Andrea Zanko;
Ruth K Abramson
;
Karen Marder;
Jorge Sequeiros
;
Bernhard B Landwehrmeyer
;
Ira Shoulson
;
Richard H Myers;
Marcy E MacDonald;
James F Gusella
;
...More
PUBLISHED:
2012
,
SOURCE:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
VOLUME:
424,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
37
TITLE:
The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil
AUTHORS:
Debora Gusmao Melo
;
Jorge Sequeiros
;
PUBLISHED:
2012
,
SOURCE:
GENETIC TESTING AND MOLECULAR BIOMARKERS,
VOLUME:
16,
ISSUE:
7
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
38
TITLE:
The wide variation of definitions of genetic testing in international recommendations, guidelines and reports
AUTHORS:
Sequeiros, J
;
Paneque, M
; Guimaraes, B; Rantanen, E; Javaher, P; Nippert, I; Schmidtke, J; Kaariaainen, H; Kristoffersson, U; Cassiman, JJ;
PUBLISHED:
2012
,
SOURCE:
Journal of Community Genetics,
VOLUME:
3,
ISSUE:
2
INDEXED IN:
Scopus
CrossRef
:
13
IN MY:
ORCID
39
TITLE:
A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. EDNRA is associated with migraine without aura
Full Text
AUTHORS:
Lemos, C
;
Neto, JL
;
Pereira Monteiro, J
;
Mendonca, D
;
Barros, José
;
Sequeiros, J
;
Alonso, I
;
Sousa, A
;
PUBLISHED:
2011
,
SOURCE:
EUROPEAN JOURNAL OF NEUROLOGY,
VOLUME:
18,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
14
IN MY:
ORCID
40
TITLE:
Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?
Full Text
AUTHORS:
Emmel, VE;
Alonso, I
;
Jardim, LB
; Saraiva Pereira, ML;
Sequeiros, J
;
PUBLISHED:
2011
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
79,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
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