Browsing by Author Sequeiros, J

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Issue DateTitleAuthor(s)Type
2017A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.Seixas, AI; Loureiro, JR; Costa, C; Ordóñez-Ugalde, A; Marcelino, H; Oliveira, CL; Loureiro, JL; Dhingra, A; Brandão, E; Cruz, VT; Timóteo, A; Quintáns, B; Rouleau, GA; Rizzu, P; Carracedo, A; Bessa, J; Heutink, P; Sequeiros, J; Sobrido, MJ; Coutinho, P; Silveira, IArtigo em Revista Científica Internacional
2019A pipeline to assess disease-associated haplotypes in repeat expansion disorders: The example of MJD/SCA3 locusCosta, IPD; Almeida, B; Sequeiros, J; Amorim, A; Martins, SArtigo em Revista Científica Internacional
2018Analysis of (CAG) n Expansion in ATXN1, ATXN2 and ATXN3 in Chinese Patients With Multiple System AtrophyZhou, X; Wang, C; Ding, D; Chen, Z; Peng, Y; Peng, H; Hou, X; Wang, P; Hou, X; Ye, W; Li, T; Yang, H; Qiu, R; Xia, K; Sequeiros, J; Tang, B; Jiang, HArtigo em Revista Científica Internacional
2021-01-18Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosisAlves-Ferreira, M; Azevedo, A; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, CArtigo em Revista Científica Internacional
2019C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patientsDias, A; Santos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Alonso, I; Sousa, A; Lemos, CArtigo em Revista Científica Internacional
2016Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onsetSantos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Mendonça, D; Alonso, I; Lemos, C; Sousa, AArtigo em Revista Científica Internacional
2021A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control studyAlves-Ferreira, M; Quintas, M; Sequeiros, J; Sousa, A; Pereira-Monteiro, J; Alonso, I; Neto, JL; Lemos, CArtigo em Revista Científica Internacional
2020Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseAkçimen, F; Martins, S; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes-Cendes, I; Saraiva-Pereira, ML; Jardim, LB; Sequeiros, J; Dion, PA; Rouleau, GAArtigo em Revista Científica Internacional
2019Is the high frequency of machado-joseph disease in China due to new mutational orignis?Li, T; Martins, S; Peng, Y; Wang, P; Hou, X; Chen, Z; Wang, C; Tang, Z; Qiu, R; Chen, C; Hu, Z; Xia, K; Tang, B; Sequeiros, J; Jiang, HArtigo em Revista Científica Internacional
2019Large Normal Alleles of ATXN2 Decrease Age at Onset in Transthyretin Familial Amyloid Polyneuropathy Val30Met PatientsSantos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Mendonça, D; Alonso, I; Sousa, A; Lemos, CArtigo em Revista Científica Internacional
2018Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive studyLopes, A; Sousa, A; Fonseca, I; Branco, M; Rodrigues, C; Coelho, T; Sequeiros, J; Freitas, PArtigo em Revista Científica Internacional
2015Machado-Joseph disease in a Nigerian family: mutational origin and review of the literatureOgun, SA; Martins, S; Adebayo, PB; Dawodu, CO; Sequeiros, J; Finkel, MFArtigo em Revista Científica Internacional
2014Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.Martins, S; Pearson, CE; Coutinho, P; Provost, S; Amorim, A; Dubé, MP; Sequeiros, J; Rouleau, GAArtigo em Revista Científica Internacional
2017mtDNA copy number associated with age of onset in familial amyloid polyneuropathySantos, D; Santos, MJ; Alves-Ferreira, M; Coelho, T; Sequeiros, J; Alonso, I; Oliveira, P; Sousa, A; Lemos, C; Grazina, MArtigo em Revista Científica Internacional
2020Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitutionLoureiro, JR; Oliveira, CL; Mota, C; Castro, AF; Costa, C; Loureiro, JL; Coutinho, P; Martins, S; Sequeiros, J; Silveira, IArtigo em Revista Científica Internacional
2020Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular basis and expanded clinical phenotypeSantos, M; Damásio, J; Kun-Rodrigues, C; Barbot, C; Sequeiros, J; Brás, J; Alonso, I; Guerreiro, RArtigo em Revista Científica Internacional
2014Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30MLemos, C; Coelho, T; Alves-Ferreira, M; Martins-da-Silva, A; Sequeiros, J; Mendonca, DArtigo em Revista Científica Internacional
2019Parkin truncating variants result in a loss-of-function phenotypeSantos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, IArtigo em Revista Científica Internacional
2018Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the diseaseLopes, A; Fonseca, I; Sousa, A; Rodrigues, C; Branco, M; Coelho, T; Sequeiros, J; Freitas, PArtigo em Revista Científica Internacional
2018A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37Loureiro, JR; Oliveira, CL; Sequeiros, J; Silveira, IArtigo em Revista Científica Internacional