Publications by authors named "Frederic Tort"

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Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
Olatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, María Unceta, Javier De Las Heras, Frederic Tort

Mitochondrion· January 2026

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Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.
Eulàlia Segur-Bailach, Anna Mateu-Bosch, Xavier Bofill-De Ros, Marta Parés, Patricia da Silva Buttkus, Frederic Tort

Mol Ther· October 2025

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Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, Aida M Bertoli-Avella, Marta Gómez-Chiari, Frederic Tort

Brain Commun· October 2025

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Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Agustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon, Eliana Barriocanal-Casado, Alba Pesini, Frederic Tort

Ann Neurol· December 2024

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Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model.
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Frederic Tort

Mol Ther Methods Clin Dev· September 2024

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Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, Angels García-Cazorla, Mar O'Callaghan, Frederic Tort

Mol Genet Metab· July 2024

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CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
Gerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach, Sonia Moliner, Susana Jurado, Frederic Tort

J Inherit Metab Dis· November 2023

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Functional Evidence of as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Luisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez, Laura Gort, Judit García-Villoria, Frederic Tort

Int J Mol Sci· August 2023

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Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Frederic Tort

Orphanet J Rare Dis· July 2023

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Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, Cristina Jou, Olatz Ugarteburu, Frederic Tort

Brain Pathol· May 2023

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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Frederic Tort

Int J Mol Sci· October 2022

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HACE1 builds molecular crosstalks between rare diseases and (more) common disorders.
Frederic Tort

Clin Transl Med· June 2022

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Frederic Tort

Genome Med· April 2022

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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Frederic Tort

Hum Mutat· March 2022

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Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, Laura Texido, Celia Painous

J Clin Med· March 2022

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Implementation of second-tier tests in newborn screening for the detection of vitamin B related acquired and genetic disorders: results on 258,637 newborns.
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Frederic Tort

Orphanet J Rare Dis· April 2021

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Laura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, Roser Pons, Anastasia Skouma, Frederic Tort

J Inherit Metab Dis· March 2021

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Leigh syndrome associated with TRMU gene mutations.
Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de Las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Frederic Tort

Mol Genet Metab Rep· March 2021

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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, Rita Barone, Sandra Brasil, Frederic Tort

J Inherit Metab Dis· January 2021

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Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
Olatz Ugarteburu, Maria Teresa Garcia-Silva, Luis Aldamiz-Echevarria, Laura Gort, Judit Garcia-Villoria, Frederic Tort

Mitochondrion· November 2020

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Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Frederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, Olatz Ugarteburu, Xenia Ferrer-Cortès

Mol Genet Metab· November 2020

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Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Frederic Tort

J Inherit Metab Dis· March 2020

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Physiopathological Bases of the Disease Caused by Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response.
Olatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, Tamara Barcos-Rodríguez, Gloria Garrabou, Frederic Tort

J Clin Med· March 2020

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Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Frederic Tort, Olatz Ugarteburu, Laura Texidó, Sabrina Gea-Sorlí, Judit García-Villoria

Hum Mutat· October 2019

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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Cristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, Andres Nascimento, Alejandra Darling, Frederic Tort

J Clin Med· January 2019

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