António Jorge dos Santos Pereira de Sequeiros


AuthID: R-000-23K

Confirmed Publications: 240



51
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
52
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
53
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
54
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
55
TITLE: Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal  Full Text
AUTHORS: Vale, J; Bugalho, P; Silveira, I ; Sequeiros, J ; Guimaraes, J; Coutinho, P ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
56
57
TITLE: Common Origin of Pure and Interrupted Repeat Expansions in Spinocerebellar Ataxia Type 2 (SCA2)  Full Text
AUTHORS: Eliana Marisa Ramos; Sandra Martins ; Isabel Alonso ; Vanessa E Emmel; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Paula Coutinho ; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 153B, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 28
IN MY: ORCID
58
TITLE: Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias  Full Text
AUTHORS: Jorge Sequeiros ; Sara Seneca; Joanne Martindale;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
59
60
TITLE: EMQN Best Practice Guidelines for molecular genetic testing of SCAs Prepared on behalf of the European Molecular Quality Genetics Network (EMQN)  Full Text
AUTHORS: Jorge Sequeiros ; Joanne Martindale; Sara Seneca;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 11
INDEXED IN: Scopus WOS
Page 6 of 24. Total results: 240.

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