3 documents found, page 1 of 1
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-...
Baptista, V; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, V; Carmona, C; Silva, F; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, A; Leitão, ABACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admit...
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-...
Baptista, MV; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, VT; Carmona, C; Silva, FA; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, AA; Leitão, ABACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admit...
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n alle...
Silveira, I; Miranda, C; Guimarães, L; Moreira, MC; Alonso, I; Mendonça, P; Ferro, A; Pinto-Basto, J; Coelho, J; Ferreirinha, F; Poirier, J; Vale, JBACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. OBJECTIVE: To examine the...