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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: Ana I Seixas; Jose Vale; Paula Jorge; Isabel Marques; Rosario Santos; Isabel Alonso ; Ana M Fortuna; Jorge Pinto Basto; Paula Coutinho ; Russell L Margolis; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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
IN MY: ORCID
44
TITLE: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes  Full Text
AUTHORS: Teresa Temudo; Monica Santos; Elisabete Ramos ; Karin Dias; Jose Pedro Vieira; Ana Moreira; Eulalia Calado; Ines Carrilho; Guiomar Oliveira ; Antonio Levy; Clara Barbot ; Maria Fonseca; Alexandra Cabral; Pedro Cabral; Jose Monteiro; Luis Borges; Roseli Gomes; Graca Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes ; Jorg T Epplen; Jorge Sequeiros ; Patricia Maciel ; ...More
PUBLISHED: 2011, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 17
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
IN MY: ORCID
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
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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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