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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
34
TITLE: Sequence Analysis of 5' Regulatory Regions of the Machado-Joseph Disease Gene (ATXN3)  Full Text
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Jacome Bruges Armas ; Manuela Lima ;
PUBLISHED: 2012, SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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: 12
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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