Showing results 6 to 24 of 24
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Issue Date | Title | Author(s) | Type |
2016 | Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset | Santos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Mendonça, D; Alonso, I; Lemos, C; Sousa, A | Artigo em Revista Científica Internacional |
2018 | Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning? | Lopes, A; Rodrigues, C; Fonseca, I; Sousa, A; Branco, M; Coelho, T; Sequeiros, J; Freitas, P | Artigo em Revista Científica Internacional |
2021 | A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study | Alves-Ferreira, M; Quintas, M; Sequeiros, J; Sousa, A; Pereira-Monteiro, J; Alonso, I; Neto, JL; Lemos, C | Artigo em Revista Científica Internacional |
2020 | Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease | Akçimen, 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, GA | Artigo em Revista Científica Internacional |
2019 | Is 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, H | Artigo em Revista Científica Internacional |
2019 | Large Normal Alleles of ATXN2 Decrease Age at Onset in Transthyretin Familial Amyloid Polyneuropathy Val30Met Patients | Santos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Mendonça, D; Alonso, I; Sousa, A; Lemos, C | Artigo em Revista Científica Internacional |
2018 | Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study | Lopes, A; Sousa, A; Fonseca, I; Branco, M; Rodrigues, C; Coelho, T; Sequeiros, J; Freitas, P | Artigo em Revista Científica Internacional |
2015 | Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature | Ogun, SA; Martins, S; Adebayo, PB; Dawodu, CO; Sequeiros, J; Finkel, MF | Artigo em Revista Científica Internacional |
2014 | Modifiers 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, GA | Artigo em Revista Científica Internacional |
2017 | mtDNA copy number associated with age of onset in familial amyloid polyneuropathy | Santos, D; Santos, MJ; Alves-Ferreira, M; Coelho, T; Sequeiros, J; Alonso, I; Oliveira, P; Sousa, A; Lemos, C; Grazina, M | Artigo em Revista Científica Internacional |
2020 | Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution | Loureiro, JR; Oliveira, CL; Mota, C; Castro, AF; Costa, C; Loureiro, JL; Coutinho, P; Martins, S; Sequeiros, J; Silveira, I | Artigo em Revista Científica Internacional |
2020 | Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular basis and expanded clinical phenotype | Santos, M; Damásio, J; Kun-Rodrigues, C; Barbot, C; Sequeiros, J; Brás, J; Alonso, I; Guerreiro, R | Artigo em Revista Científica Internacional |
2014 | Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M | Lemos, C; Coelho, T; Alves-Ferreira, M; Martins-da-Silva, A; Sequeiros, J; Mendonca, D | Artigo em Revista Científica Internacional |
2019 | Parkin truncating variants result in a loss-of-function phenotype | Santos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, I | Artigo em Revista Científica Internacional |
2018 | Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease | Lopes, A; Fonseca, I; Sousa, A; Rodrigues, C; Branco, M; Coelho, T; Sequeiros, J; Freitas, P | Artigo em Revista Científica Internacional |
2018 | A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37 | Loureiro, JR; Oliveira, CL; Sequeiros, J; Silveira, I | Artigo em Revista Científica Internacional |
2018 | A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal | Alves-Ferreira, M; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C | Artigo em Revista Científica Internacional |
2019 | Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal | Paneque, M; Félix, J; Mendes, Á; Lemos, C; Lêdo, S; Silva, J; Sequeiros, J | Artigo em Revista Científica Internacional |
2016 | Variants 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, A | Artigo em Revista Científica Internacional |