52
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: 10
IN MY: ORCID
53
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
54
TITLE: Polymorphisms in DNA methylatione-related genes are linked to the phenotype of Machado-Joseph disease  Full Text
AUTHORS: Ding, DX; Wang, CR; Chen, Z; Peng, HR; Li, K; Zhou, X; Peng, Y; Wang, PZ; Hou, XC; Li, TJ; Qiu, R; Xia, K; Sequeiros, J; Ashizawa, T; Tang, BS; Jiang, H;
PUBLISHED: 2019, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 75
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
55
TITLE: Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients. Large Normal ATXN2 Alleles  Full Text
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves Ferreira; Jorge Sequeiros; Denisa Mendonca ; Isabel Alonso; Alda Sousa; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 85, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
56
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
IN MY: ORCID
58
TITLE: Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?  Full Text
AUTHORS: Li, TJ; Martins, S ; Peng, Y; Wang, PZ; Hou, XC; Chen, Z; Wang, CR; Tang, ZL; Qiu, R; Chen, C; Hu, ZM; Xia, K; Tang, BS; Sequeiros, J; Jiang, H;
PUBLISHED: 2019, SOURCE: FRONTIERS IN GENETICS, VOLUME: 9, ISSUE: FEB
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID
59
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
IN MY: ORCID
60
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
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