António Jorge dos Santos Pereira de Sequeiros


AuthID: R-000-23K

Publications Awaiting Confirmation

41
TITLE: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
AUTHORS: Roux, T; Barbier, M; Papin, M; Davoine, CS; Sayah, S; Coarelli, G; Charles, P; Marelli, C; Parodi, L; Tranchant, C; Goizet, C; Klebe, S; Lohmann, E; Van Maldergen, L; van Broeckhoven, C; Coutelier, M; Tesson, C; Stevanin, G; Duyckaerts, C; Brice, A; Durr, A; Durr, A; Stevanin, G; Brice, A; Darios, F; Forlani, S; Site, PS; Banneau, G; Cazeneuve, C; Charles, P; Duyckaerts, C; Fontaine, B; Azulay, JP; Boesfplug Tanguy, O; Goizet, C; Hannequin, D; Hazan, J; Burgo, A; Verny, C; Koenig, M; Labauge, P; Marelli, C; N’guyen, K; Rodriguez, D; Belarbi, S; Hamri, A; Tazir, M; Boesch, S; Pandolfo, M; Laura, J; Guergueltcheva, V; Tournev, I; Pedraza Linarès, OL; Nielsen, JE; Svenstrup, K; Zaki, M; Bauer, P; Schöls, L; Schüle, R; Lossos, A; Bassi, MT; Basso, M; Bertini, E; Brusco, A; Casali, C; Casari, G; Criscuolo, C; Filla, A; Orsi, L; Santorelli, FM; Valente, EM; Vavla, M; Vazza, G; Megarbane, A; Benomar, A; Kremer, B; Van Roon Mom, W; Roxburgh, R; Erichsen, AK; Tallaksen, C; Alonso, I; Coutinho, P; Loureiro, JL; Sequeiros, J; Salih, M; Kostic, VS; Rouco Axpe, I; Elsayed, L; Paucar, MA; Roumani, S; Bing Wen, S; Reid, E; Suran, N; Warner, T; Wood, N; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 11
INDEXED IN: Scopus CrossRef: 30
IN MY: ORCID
42
TITLE: Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study  Full Text
AUTHORS: Quintas, M; Neto, JL; Sequeiros, J; Sousa, A; Pereira Monteiro, J; Lemos, C ; Alonso, I;
PUBLISHED: 2020, SOURCE: HEADACHE, VOLUME: 60, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
43
TITLE: Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)
AUTHORS: Roux, T; Barbier, M; Papin, M; Davoine, CS; Sayah, S; Coarelli, G; Charles, P; Marelli, C; Parodi, L; Tranchant, C; Goizet, C; Klebe, S; Lohmann, E; Van Maldergem, L; van Broeckhoven, C; Coutelier, M; Tesson, C; Stevanin, G; Duyckaerts, C; Brice, A; Durr, A; Durr, A; Stevanin, G; Brice, A; Darios, F; Forlani, S; Site, PS; Banneau, G; Cazeneuve, C; Charles, P; Duyckaerts, C; Fontaine, B; Azulay, JP; Boesfplug Tanguy, O; Goizet, C; Hannequin, D; Hazan, J; Burgo, A; Verny, C; Koenig, M; Labauge, P; Marelli, C; N’guyen, K; Rodriguez, D; Belarbi, S; Hamri, A; Tazir, M; Boesch, S; Pandolfo, M; Laura, J; Guergueltcheva, V; Tournev, I; Pedraza Linarès, OL; Nielsen, JE; Svenstrup, K; Zaki, M; Bauer, P; Schöls, L; Schüle, R; Lossos, A; Bassi, MT; Basso, M; Bertini, E; Brusco, A; Casali, C; Casari, G; Criscuolo, C; Filla, A; Orsi, L; Santorelli, FM; Valente, EM; Vavla, M; Vazza, G; Megarbane, A; Benomar, A; Kremer, B; Van Roon Mom, W; Roxburgh, R; Erichsen, AK; Tallaksen, C; Alonso, I; Coutinho, P; Loureiro, JL; Sequeiros, J; Salih, M; Kostic, VS; Rouco Axpe, I; Elsayed, L; Paucar, MA; Roumani, S; Bing Wen, S; Reid, E; Suran, N; Warner, T; Wood, N; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID
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46
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: 8
IN MY: ORCID
47
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
48
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
49
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
50
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
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