Browsing by Author Alonso, I

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Showing results 1 to 13 of 13
Issue DateTitleAuthor(s)Type
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
2020Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the cerebellar syndromePedroso, JL; Vale, TC; Costa, SCG; Santos, M; Alonso, I; Barsottini, OGPArtigo em Revista Científica Internacional
2020Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegiaRodrigues, R; Silva, R; Branco, M; Brandão, E; Alonso, I; Ruano, L; Loureiro, JLArtigo 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
2019Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challengeSalgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, MArtigo 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
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
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
2019Parkin truncating variants result in a loss-of-function phenotypeSantos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, 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
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