Sandra Cristina da Silva Martins


AuthID: R-000-KGW

Confirmed Publications: 51



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: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity  Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
43
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 | ResearcherID
44
TITLE: Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)  Full Text
AUTHORS: Teresa Almeida; Isabel Alonso ; Sandra Martins ; Eliana Marisa Ramos; Luisa Azevedo ; Kinji Ohno; Amorim, Antonio ; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Tohru Matsuura; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2009, SOURCE: PLOS ONE, VOLUME: 4, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 37
IN MY: ORCID | ResearcherID
45
TITLE: Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease  Full Text
AUTHORS: Sandra Martins ; Paula Coutinho ; Isabel Silveira ; Paola Giunti; Laura B Jardim; Francesc Calafell; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 147B, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID | ResearcherID
46
TITLE: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
AUTHORS: Sandra Martins ; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira ; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing Wen Soong; Leal Loureiro; Alexandra Duerr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy A Rouleau; Paula Coutinho ; Amorim, Antonio ; Jorge Sequeiros ; ...More
PUBLISHED: 2007, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 64, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 54
IN MY: ORCID | ResearcherID
47
TITLE: A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus  Full Text
AUTHORS: Sandra Martins ; Francesc Calafell; Virginia C N Wong; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2006, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 14, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID | ResearcherID
48
TITLE: Haplotype diversity and somatic instability in normal and expanded SCA8 alleles  Full Text
AUTHORS: Martins, S ; Seixas, AI; Magalhaes, P; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2005, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 139B, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID | ResearcherID
49
TITLE: Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin  Full Text
AUTHORS: Martins, S ; Matama, T ; Guimaraes, L ; Vale, J; Guimaraes, J; Ramos, L; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2003, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 11, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID | ResearcherID
50
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