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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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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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Title Dsc
Results:
10
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50
Confirmed Publications: 236
41
TITLE:
Epidemiology and population genetics of degenerative ataxias
AUTHORS:
Sequeiros, J
;
Martins, S
;
Silveira, I
;
PUBLISHED:
2011
,
SOURCE:
Handbook of Clinical Neurology,
VOLUME:
103
INDEXED IN:
Scopus
CrossRef
:
51
IN MY:
ORCID
42
TITLE:
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
Full Text
AUTHORS:
Seixas, AI
; Vale, J;
Jorge, P
;
Marques, I
;
Santos, R
;
Alonso, I
;
Fortuna, AM
; Pinto Basto, J;
Coutinho, P
; Margolis, RL;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2011
,
SOURCE:
BEHAVIORAL AND BRAIN FUNCTIONS,
VOLUME:
7,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
Handle
IN MY:
ORCID
43
TITLE:
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders
Full Text
AUTHORS:
Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon Thomsen; Jean Jacques Cassiman; Gerry Evers Kiebooms; Shirley Hodgson; Cecile C J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski;
Jorge Sequeiros
;
Lisbeth Tranebjaerg;
Irene M van Langen;
Helen Wallace;
Ron Zimmern;
Joerg Schmidtke;
Martina C Cornel;
...More
PUBLISHED:
2011
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
19,
ISSUE:
SUPPL. 1
INDEXED IN:
Scopus
WOS
44
TITLE:
Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
Full Text
AUTHORS:
Temudo, T; Santos, M;
Ramos, E
; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I;
Oliveira, G
; Levy, A;
Barbot, C
; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M;
Fernandes, A
;
Epplen, JT;
Sequeiros, J
;
Maciel, P
;
...More
PUBLISHED:
2011
,
SOURCE:
BRAIN & DEVELOPMENT,
VOLUME:
33,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
Handle
IN MY:
ORCID
45
TITLE:
The APOE epsilon 2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease
AUTHORS:
Conceicao Bettencourt
;
Mafalda Raposo
;
Nadiya Kazachkova
;
Teresa Cymbron
;
Cristina Santos
; Teresa Kay; Joao Vasconcelos;
Patricia Maciel
; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim;
Jorge Sequeiros
;
Manuela Lima
;
PUBLISHED:
2011
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
68,
ISSUE:
12
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
46
TITLE:
Y-STR haplotypes in three ethnic linguistic groups of Angola population
AUTHORS:
Miguel Manuel Melo;
Monica Carvalho
;
Virginia Lopes
;
Maria Joao Anjos
; Armando Serra;
Duarte Nuno Vieira
;
Jorge Sequeiros
;
Francisco Corte Real
;
PUBLISHED:
2011
,
SOURCE:
FORENSIC SCIENCE INTERNATIONAL-GENETICS,
VOLUME:
5,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
4
IN MY:
ORCID
47
TITLE:
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
Full Text
AUTHORS:
Ronald G Lafreniere; Zameel Z Cader; Jean Francois Poulin; Isabelle Andres Enguix; Maryse Simoneau; Namrata Gupta; Karine Boisvert; Francois Lafreniere; Shannon McLaughlan; Marie Pierre Dube; Martin M Marcinkiewicz; Sreeram Ramagopalan; Olaf Ansorge; Bernard Brais;
Jorge Sequeiros
;
Jose Maria Pereira Monteiro
; Lyn R Griffiths; Stephen J Tucker; George Ebers; Guy A Rouleau;
PUBLISHED:
2010
,
SOURCE:
NATURE MEDICINE,
VOLUME:
16,
ISSUE:
10
INDEXED IN:
Scopus
WOS
48
TITLE:
A new mutation in the GJB1 gene causing a mild form of X-linked CMT
Full Text
AUTHORS:
Correia, F; Morais, H; Alves, D; Cerqueira, J; Basto, JP;
Sequeiros, J
;
PUBLISHED:
2010
,
SOURCE:
20th Meeting of the European-Neurological-Society
in
JOURNAL OF NEUROLOGY,
VOLUME:
257
INDEXED IN:
WOS
49
TITLE:
Ataxia and Progressive Encephalopathy in a 4-Year-Old Girl
AUTHORS:
Michael D Spears; Shelby Melton; Qinwen W Mao; Deborah Payne; Dinesh Rakheja; Kimmo J Hatanpaa; Dennis K Burns;
Jorge Sequeiros
;
Isabel Alonso
;
PUBLISHED:
2010
,
SOURCE:
LABMEDICINE,
VOLUME:
41,
ISSUE:
1
INDEXED IN:
WOS
50
TITLE:
Ataxia and progressive encephalopathy in a 4-year-old girl
AUTHORS:
Spears, MD; Melton, S; Mao, Q; Payne, D; Rakheja, D; Hatanpaa, KJ; Burns, DK;
Sequeiros, J
;
Alonso, I
;
PUBLISHED:
2010
,
SOURCE:
Laboratory Medicine,
VOLUME:
41,
ISSUE:
1
INDEXED IN:
Scopus
CrossRef
IN MY:
ORCID
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