Sandra Cristina da Silva Martins


AuthID: R-000-KGW

Confirmed Publications: 46



31
TITLE: Mutational mechanism for DAB1 (ATTTC)(n) insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution  Full Text
AUTHORS: Loureiro, JR; Oliveira, CL; Mota, C; Castro, AF; Costa, C; Loureiro, JL; Coutinho, P; Martins, S ; Sequeiros, J; Silveira, I;
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
32
TITLE: The potential use of the UV-A and UV-B to improve tomato quality and preference for consumers  Full Text
AUTHORS: Nuno Mariz Ponte; Sandra Martins ; Alexandre Goncalves; Carlos M Correia; Carlos Ribeiro; Maria Celeste Dias; Conceição Santos ;
PUBLISHED: 2019, SOURCE: SCIENTIA HORTICULTURAE, VOLUME: 246
INDEXED IN: Scopus WOS
33
TITLE: Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor
AUTHORS: Reuven Sharony; Sandra Martins ; Ines P D Costa; Roy Zaltzman; Amorim, Antonio ; Jorge Sequeiros; Carlos R Gordon;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
34
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 | ResearcherID
35
TITLE: Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis
AUTHORS: Hussein Daoud; Veronique Belzil; Sandra Martins ; Mike Sabbagh; Pierre Provencher; Lucette Lacomblez; Vincent Meininger; William Camu; Nicolas Dupre; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2011, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 68, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 64
IN MY: ORCID | ResearcherID
36
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
37
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
38
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
39
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
40
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
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