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Browsing by Author Sequeiros, J

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Showing results 11 to 24 of 24 < previous 
Issue DateTitleAuthor(s)Type
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
2018A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in PortugalAlves-Ferreira, M; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, CArtigo em Revista Científica Internacional
2019Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in PortugalPaneque, M; Félix, J; Mendes, Á; Lemos, C; Lêdo, S; Silva, J; Sequeiros, JArtigo em Revista Científica Internacional
2016Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)Santos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Mendonça, D; Alonso, I; Lemos, C; Sousa, AArtigo em Revista Científica Internacional
Showing results 11 to 24 of 24 < previous