Browsing by Author Loureiro, JL
Showing results 1 to 3 of 3
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 |
2020 | Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia | Rodrigues, R; Silva, R; Branco, M; Brandão, E; Alonso, I; Ruano, L; Loureiro, JL | 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 |