Publications by authors named "Isabel Rivera"

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Isabel Rivera

Brain· November 2025

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Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Leonardo Simão Medeiros, Lucas Ferreira Teixeira, Alexandra Gomes, Isabel Rivera, Cláudia Fernandes Lorea

Mol Genet Metab· August 2025

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SARS-CoV-2 infection of human cortical cells is influenced by the interaction between aneuploidy and biological sex: insights from a Down syndrome in vitro model.
Maria I Lioudyno, Evgueni A Sevrioukov, Gema M Olivarria, Lauren Hitchcock, Dominic I Javonillo, Isabel Rivera

Acta Neuropathol· May 2025

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Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
M Estela Rubio-Gozalbo, E Naomi Vos, Isabel Rivera, Kent Lai, Gerard T Berry

J Inherit Metab Dis· March 2025

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Natural history of three late-diagnosed classic Galactosemia patients.
Dulce Quelhas, Sandra D K Kingma, An I Jonckheere, Claudia S Smeets-Peels, Daniel Costa Gomes, Isabel Rivera

Mol Genet Metab Rep· March 2024

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Bianca Panis, E Naomi Vos, Ivo Barić, Annet M Bosch, Martijn C G J Brouwers, Isabel A Rivera

Front Genet· February 2024

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Sulphur Amino Acids: How Important is it to Set Reference Ranges for Each Population?
Helena Caldeira Araújo, Cristina Florindo, Alexandra Gomes, João Caio, Rita Castro, Isabel Rivera

Endocr Metab Immune Disord Drug Targets· January 2024

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Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines.
Hana Pavlú-Pereira, Cristina Florindo, Filipa Carvalho, Isabel Tavares de Almeida, Joao Vicente, Isabel Rivera

Endocr Metab Immune Disord Drug Targets· October 2023

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An efficient method for simultaneous species, individual, and sex identification via in-solution single nucleotide polymorphism capture from low-quality scat samples.
Lillian D Parker, Michael G Campana, Jessica D Quinta, Brian Cypher, Isabel Rivera

Mol Ecol Resour· May 2022

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IVEN: A quantitative tool to describe 3D cell position and neighbourhood reveals architectural changes in FGF4-treated preimplantation embryos.
Jessica E Forsyth, Ali H Al-Anbaki, Roberto de la Fuente, Nikkinder Modare, Diego Perez-Cortes, Isabel Rivera

PLoS Biol· July 2021

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Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
Hana Pavlu-Pereira, Diana Lousa, Catarina S Tomé, Cristina Florindo, Maria João Silva, Isabel Rivera

Biochimie· April 2021

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Galactokinase deficiency: lessons from the GalNet registry.
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, Isabel A Rivera

Genet Med· January 2021

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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Isabel Rivera

Orphanet J Rare Dis· October 2020

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Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells.
Sunyoung Hwang, Jessica F Williams, Maja Kneissig, Maria Lioudyno, Isabel Rivera

Cell Rep· November 2019

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Darier disease: first molecular study of a Portuguese family.
Andreia Almeida, Maria de Lurdes Lobo, Cecília Moura, Isabel Rivera

Heliyon· September 2019

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Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions.
Helena Caldeira-Araújo, Ruben Ramos, Cristina Florindo, Isabel Rivera, Rita Castro

Nutrients· March 2019

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Modulation of Alzheimer's amyloid β peptide oligomerization and toxicity by extracellular Hsp70.
Isabel Rivera, Ricardo Capone, David M Cauvi, Nelson Arispe, Antonio De Maio

Cell Stress Chaperones· March 2018

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Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
Danijela Petković Ramadža, Vladimir Sarnavka, Jurica Vuković, Ksenija Fumić, Vjekoslav Krželj, Isabel Rivera

J Pediatr Endocrinol Metab· January 2018

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Sweet and sour: an update on classic galactosemia.
Ana I Coelho, M Estela Rubio-Gozalbo, João B Vicente, Isabel Rivera

J Inherit Metab Dis· May 2017

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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.
Ana Pinheiro, Maria João Silva, Hana Pavlu-Pereira, Cristina Florindo, Madalena Barroso, Isabel Rivera

Data Brief· December 2016

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Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Ana Pinheiro, Maria João Silva, Hana Pavlu-Pereira, Cristina Florindo, Madalena Barroso, Isabel Rivera

Gene· October 2016

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ISOLATION AND MOLECULAR IDENTIFICATION OF POTENTIALLY PATHOGENIC Escherichia coli AND Campylobacter jejuni IN FERAL PIGEONS FROM AN URBAN AREA IN THE CITY OF LIMA, PERU.
Moisés Caballero, Isabel Rivera, Luis M Jara, Francisco M Ulloa-Stanojlovic, Carlos Shiva

Rev Inst Med Trop Sao Paulo· April 2016

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Changes in macrophage function modulated by the lipid environment.
Michael R Williams, David M Cauvi, Isabel Rivera, Dennis Hawisher, Antonio De Maio

Innate Immun· April 2016

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Scedosporium apiospermum and S. prolificans mixed disseminated infection in a lung transplant recipient: An unusual case of long-term survival with combined systemic and local antifungal therapy in intensive care unit.
Bárbara Balandin, Miriam Aguilar, Isabel Sánchez, Araceli Monzón, Isabel Rivera

Med Mycol Case Rep· March 2016

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Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.
Marisa I S Mendes, Desirée E C Smith, João B Vicente, Isabel Tavares De Almeida, Tawfeg Ben-Omran, Isabel A Rivera

Hum Mol Genet· December 2015

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