ProfileOfResearchers

TITLE: Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease Full Text
AUTHORS: Pedro Castro ; Mariana Gutierres; Gilberto Pereira; Susana Ferreira ; Oliveira, JP ; Elsa Azevedo ;
PUBLISHED: 2020, SOURCE: BRAIN SCIENCES, VOLUME: 10, ISSUE: 8

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TITLE: Fabry disease associated with the GLA p.Phe113Leu variant: Evidence for a common ancestor between Portuguese and Italians Full Text
AUTHORS: Diana Martins; Susana Ferreira ; Luisa Pereira; Nicoletta Chiesa; Joao Oliveira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26

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TITLE: Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype-phenotype correlations Full Text
AUTHORS: Oliveira, JP ; Susana Ferreira ;
PUBLISHED: 2019, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 12

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TITLE: Primary involvement of neurovascular coupling in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy Full Text
AUTHORS: Andrea Jokumsen Cabral; Ana Aires; Susana Ferreira ; Elsa Azevedo ; Pedro Castro ;
PUBLISHED: 2019, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 266, ISSUE: 7

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TITLE: Individuals With Normal GLA Gene Sequence May Present Abnormally Spliced Alpha-Galactosidase mRNA Transcripts
AUTHORS: Susana Ferreira ; Miguel Viana-Baptista; Daniel Rodrigues; Oliveira, JP ;
PUBLISHED: 2015, SOURCE: Gene, Cell and Tissue, VOLUME: 3, ISSUE: 1

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TITLE: The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies Full Text
AUTHORS: Susana Ferreira ; Alberto Ortiz; Dominique P Germain; Miguel Viana Baptista; Antonio Caldeira Gomes; Marta Camprecios; Maria Fenollar Cortes; Angel Gallegos Villalobos; Diego Garcia; Jose A Antonio Garcia Robles; Jesus Egido; Eduardo Gutierrez Rivas; Jose A Antonio Herrero; Sebastian Mas; Raluca Oancea; Paloma Peres; Luis M Manuel Salazar Martin; Jesus Solera Garcia; Helena Alves; Scott C Garman; Oliveira, JP ; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, ISSUE: 2

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TITLE: Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma Full Text
AUTHORS: Susana Ferreira ; Christiane Auray Blais; Michel Boutin; Pamela Lavoie; Jose Pedro Nunes ; Elisabete Martins ; Scott Garman; Oliveira, JP ;
PUBLISHED: 2015, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 447

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