João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Confirmed Publications: 109



11
TITLE: Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus  Full Text
AUTHORS: Moreno Martinez, D; Aguiar, P; Auray Blais, C; Beck, M; Bichet, DG; Burlina, A; Cole, D; Elliott, P; Feldt Rasmussen, U; Feriozzi, S; Fletcher, J; Giugliani, R; Jovanovic, A; Kampmann, C; Langeveld, M; Lidove, O; Linhart, A; Mauer, M; Moon, JC; Muir, A; Nowak, A; Oliveira, JP ; Ortiz, A; Pintos Morell, G; Politei, J; Rozenfeld, P; Schiffmann, R; Svarstad, E; Talbot, AS; Thomas, M; Tondel, C; Warnock, D; West, ML; Hughes, DA; ...More
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 132, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | CIÊNCIAVITAE
12
TITLE: Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss
AUTHORS: Behzad Najafian; Camilla Tondel; Einar Svarstad; Marie Claire Gubler; Oliveira, JP ; Michael Mauer;
PUBLISHED: 2020, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 31, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 61
IN MY: ORCID | CIÊNCIAVITAE
13
TITLE: Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease
AUTHORS: Charlton, JR; Tan, WZ; Daouk, G; Teot, L; Rosen, S; Bennett, KM; Cwiek, A; Nam, S; Emma, F; Jouret, F; Oliveira, JP ; Tranebjaerg, L; Frykholm, C; Mane, S; Hildebrandt, F; Srivastava, T; Storm, T; Christensen, EI; Nielsen, R;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, VOLUME: 319, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID | CIÊNCIAVITAE
14
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
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID | CIÊNCIAVITAE
15
TITLE: Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
AUTHORS: Laney, DA; Germain, DP; Oliveira, JP ; Burlina, AP; Cabrera, GH; Hong, GR; Hopkin, RJ; Niu, DM; Thomas, M; Trimarchi, H; Wilcox, WR; Politei, JM; Ortiz, A;
PUBLISHED: 2020, SOURCE: CLINICAL KIDNEY JOURNAL, VOLUME: 13, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | CIÊNCIAVITAE
16
TITLE: Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
AUTHORS: Oliveira, JP ; Albina Nowak; Frederic Barbey; Marcia Torres; Jose P Nunes ; Fernando Teixeira e Costa; Fernanda Carvalho; Susana Sampaio ; Isabel Tavares ; Odete Pereira; Ana L Soares; Catia Carmona; Maria Teresa Cardoso; Iulia E Jurca Simina; Marco Spada; Susana Ferreira ; Dominique P Germain;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 19
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Use of a rare disease registry for establishing phenotypic classification of previously unassignedGLAvariants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup
AUTHORS: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLISHED: 2020, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 45
IN MY: ORCID | CIÊNCIAVITAE
18
TITLE: Fabry disease: Detection of Alu-mediated exon duplication by NGS  Full Text
AUTHORS: Martin Farr; Susana Ferreira; Arwa Al Dilaimi; Sonja Boegeholz; Alexander Goesmann; Joern Kalinowski; Cornelius Knabbe; Lothar Faber; Oliveira, JP ; Volker Rudolph;
PUBLISHED: 2019, SOURCE: MOLECULAR AND CELLULAR PROBES, VOLUME: 45
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
19
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
INDEXED IN: Scopus WOS CrossRef: 38
IN MY: ORCID | CIÊNCIAVITAE
20
TITLE: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
AUTHORS: Dominique P Germain; Perry M Elliott; Bruno Falissard; Victor V Fomin; Max J Hilz; Ana Jovanovic; Ilkka Kantola; Ales Linhart; Renzo Mignani; Mehdi Namdar; Albina Nowak; Oliveira, JP ; Maurizio Pieroni; Miguel Viana Baptista; Christoph Wanner; Marco Spada;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 19
INDEXED IN: Scopus WOS CrossRef: 75
IN MY: ORCID | CIÊNCIAVITAE
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