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Frederic Tort

Showing results (31-40 of 47) with videos related to

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Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
Mitochondrion|December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosisXènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
Human Mutation|November 19, 2016
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationLeslie Matalonga, Miren Bravo, Carla Serra-Peinado, et al.
American Journal of Human Genetics|November 15, 2011
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsAleix Navarro-Sastre, Frederic Tort, Oliver Stehling, et al.
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Human Mutation|May 7, 2019
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyFrederic Tort, Olatz Ugarteburu, Laura Texidó, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
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 newbornsSonia Pajares, Jose Antonio Arranz, Aida Ormazabal, et al.
Nature|December 1, 2006
Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpointsJirina Bartkova, Nousin Rezaei, Michalis Liontos, et al.
Orphanet Journal of Rare Diseases|May 1, 2021
Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newbornsSonia Pajares, Jose Antonio Arranz, Aida Ormazabal, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
Mitochondrion|December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosisXènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
Human Mutation|November 19, 2016
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationLeslie Matalonga, Miren Bravo, Carla Serra-Peinado, et al.
American Journal of Human Genetics|November 15, 2011
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsAleix Navarro-Sastre, Frederic Tort, Oliver Stehling, et al.
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Human Mutation|May 7, 2019
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyFrederic Tort, Olatz Ugarteburu, Laura Texidó, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
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 newbornsSonia Pajares, Jose Antonio Arranz, Aida Ormazabal, et al.
Nature|December 1, 2006
Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpointsJirina Bartkova, Nousin Rezaei, Michalis Liontos, et al.
Orphanet Journal of Rare Diseases|May 1, 2021
Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newbornsSonia Pajares, Jose Antonio Arranz, Aida Ormazabal, et al.
Journal of Clinical Medicine|January 13, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial DiseaseCristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, et al.
Pageof 5