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Belén Pérez

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 19

Top Venues

Journal of inherited metabolic disease

International journal of molecular sciences

Human mutation

Clinical genetics

Universidad Autónoma de Madrid

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidad Autónoma de Madrid

Spain

Researcher :: Biología Molecular

Publications

Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy. International journal of molecular sciences 24 (3) (2023)
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy. International journal of molecular sciences 24 (3) (2023)
Irene Bravo-Alonso, Matías Morin, Laura Arribas-Carreira, Mar Álvarez, Consuelo Pedrón-Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón-Maiques, Magdalena Ugarte, Pilar Rodríguez-Pombo, Joaquín Ariño, Miguel Ángel Moreno-Pelayo, Belén Pérez
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy. Journal of inherited metabolic disease 46 (2) (2023)
Irene Bravo-Alonso, Matías Morin, Laura Arribas-Carreira, Mar Álvarez, Consuelo Pedrón-Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón-Maiques, Magdalena Ugarte, Pilar Rodríguez-Pombo, Joaquín Ariño, Miguel Ángel Moreno-Pelayo, Belén Pérez
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy. Journal of inherited metabolic disease 46 (2) (2023)
Irene Bravo-Alonso, Matías Morin, Laura Arribas-Carreira, Mar Álvarez, Consuelo Pedrón-Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón-Maiques, Magdalena Ugarte, Pilar Rodríguez-Pombo, Joaquín Ariño, Miguel Ángel Moreno-Pelayo, Belén Pérez
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy. Journal of inherited metabolic disease 46 (2) (2023)
Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy. International journal of molecular sciences 24 (3) (2023)
Cristina Segovia-Falquina, Alicia Vilas, Fátima Leal, Francisco Del Caño-Ochoa, Edwin P Kirk, Magdalena Ugarte, Santiago Ramón-Maiques, Alejandra Gámez, Belén Pérez
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones. Human mutation 43 (10) (2022)
Irene Bravo-Alonso, Matías Morin, Laura Arribas-Carreira, Mar Álvarez, Consuelo Pedrón-Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón-Maiques, Magdalena Ugarte, Pilar Rodríguez-Pombo, Joaquín Ariño, Miguel Ángel Moreno-Pelayo, Belén Pérez
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy. Journal of inherited metabolic disease (2022)
Patricia Alcaide, Isaac Ferrer-López, Leticia Gutierrez, Fatima Leal, Elena Martín-Hernández, Pilar Quijada-Fraile, Marcello Bellusci, Ana Moráis, Consuelo Pedrón-Giner, Dolores Rausell, Patricia Correcher, María Unceta Suarez, Sinziana Stanescu, Magdalena Ugarte, Pedro Ruiz-Sala, Belén Pérez
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases. Journal of clinical medicine 11 (10) (2022)
Irene Bravo-Alonso, Matías Morin, Laura Arribas-Carreira, Mar Álvarez, Consuelo Pedrón-Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón-Maiques, Magdalena Ugarte, Pilar Rodríguez-Pombo, Joaquín Ariño, Miguel Ángel Moreno-Pelayo, Belén Pérez
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase (PPCDC) cause autosomal-recessive dilated cardiomyopathy. Journal of inherited metabolic disease (2022)
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, Natalia Castejón-Fernández, Rosa Navarrete, Patricia Alcaide, Maria Luz Couce, Elena Martín-Hernández, Pilar Quijada-Fraile, Luis Peña-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodríguez-Pombo, Belén Pérez
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism. International journal of molecular sciences 23 (21) (2022)
Obdulia Sánchez-Lijarcio, Delia Yubero, Fátima Leal, María L Couce, Luis González Gutiérrez-Solana, Eduardo López-Laso, Àngels García-Cazorla, Leticia Pías-Peleteiro, Begoña de Azua Brea, Salvador Ibáñez-Micó, Gonzalo Mateo-Martínez, Monica Troncoso-Schifferli, Scarlet Witting-Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. Clinical genetics 102 (1) (2022)
Elena Rojano, José Córdoba-Caballero, Fernando M Jabato, Diana Gallego, Mercedes Serrano, Belén Pérez, Álvaro Parés-Aguilar, James R Perkins, Juan A G Ranea, Pedro Seoane
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer. Journal of personalized medicine 11 (8) (2021)
Esmeralda Alonso-Barroso, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard
Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia. International journal of molecular sciences 22 (3) (2021)
Raquel Yahyaoui, Javier Blasco-Alonso, Montserrat Gonzalo-Marín, Carmen Benito, Juliana Serrano-Nieto, Inmaculada González-Gallego, Pedro Ruiz-Sala, Belén Pérez, Domingo González-Lamuño
Metabolic Serendipities of Expanded Newborn Screening. Genes 11 (9) (2020)
Diana Gallego, Fátima Leal, Alejandra Gámez, Margarita Castro, Rosa Navarrete, Obdulia Sanchez-Lijarcio, Isidro Vitoria, María Bueno-Delgado, Amaya Belanger-Quintana, Ana Morais, Consuelo Pedrón-Giner, Inmaculada García, Jaume Campistol, Rafael Artuch, Carlos Alcaide, Veronica Cornejo, David Gil, Raquel Yahyaoui, Lourdes R Desviat, Magdalena Ugarte, Aurora Martinez, Belén Pérez
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Human mutation 41 (7) (2020)
Celia Medrano, Ana Vega, Rosa Navarrete, M Jesús Ecay, Rocío Calvo, Samuel Ignacio Pascual, Mónica Ruiz-Pons, Laura Toledo, Inmaculada García-Jiménez, Ignacio Arroyo, Andrea Campo, M Luz Couce, M Rosario Domingo-Jiménez, M Teresa García-Silva, Luis González-Gutiérrez-Solana, Loreto Hierro, Elena Martín-Hernández, Mercedes Martínez-Pardo, Susana Roldán, Miguel Tomás, Jose C Cabrera, Francisco Mártinez-Bugallo, Lucía Martín-Viota, Isidro Vitoria-Miñana, Dirk J Lefeber, M Luisa Girós, Mercedes Serrano Gimare, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain. Clinical genetics 95 (5) (2019)
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage Storstein Andresen, Lourdes Ruiz Desviat
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site. PLoS genetics 14 (4) (2018)
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress. PloS one 12 (6) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Belén Pérez