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| Issue Date | Title | Author(s) | Type |
| 2017 | A 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, I | Artigo em Revista Científica Internacional |
| 2019 | A pipeline to assess disease-associated haplotypes in repeat expansion disorders: The example of MJD/SCA3 locus | Costa, IPD; Almeida, B; Sequeiros, J; Amorim, A; Martins, S | Artigo em Revista Científica Internacional |
| 2018 | Analysis of (CAG) n Expansion in ATXN1, ATXN2 and ATXN3 in Chinese Patients With Multiple System Atrophy | Zhou, 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, H | Artigo em Revista Científica Internacional |
| 2021-01-18 | Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis | Alves-Ferreira, M; Azevedo, A; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C | Artigo em Revista Científica Internacional |
| 2019 | C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients | Dias, A; Santos, D; Coelho, T; Alves-Ferreira, M; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C | Artigo em Revista Científica Internacional |
| 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 |
