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TITLE: Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease
AUTHORS: Alvaro Mendes ; Milena Paneque ; Angus Clarke; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 7
35
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
36
TITLE: Polymorphisms in DNA methylatione-related genes are linked to the phenotype of Machado-Joseph disease
AUTHORS: Dongxue X Ding; Chunrong R Wang; Zhao Chen; Huirong R Peng; Kai Li; Xin Zhou; Yun Peng; Puzhi Z Wang; Xiaocan C Hou; Tianjiao J Li; Rong Qiu; Kun Xia; Jorge Sequeiros; Tetsuo Ashizawa; Beisha S Tang; Hong Jiang;
PUBLISHED: 2019, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 75
INDEXED IN: WOS
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TITLE: A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus  Full Text
AUTHORS: Ines P D Costa; Beatriz C Almeida; Jorge Sequeiros; Amorim, Antonio ; Sandra Martins ;
PUBLISHED: 2019, SOURCE: FRONTIERS IN GENETICS, VOLUME: 10, ISSUE: FEB
INDEXED IN: Scopus WOS CrossRef: 9
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TITLE: C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients
AUTHORS: Dias, A; Santos, D; Coelho, T; Alves Ferreira, M; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C ;
PUBLISHED: 2019, SOURCE: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, VOLUME: 6, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 9
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