Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Frederic Tort

Showing results (21-30 of 47) with videos related to

Pageof 5
Sort By:
International Journal of Molecular Sciences|October 27, 2022
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 DeficiencyGerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, et al.
Molecular Genetics and Metabolism|November 6, 2020
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolutionFrederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, et al.
Journal of Inherited Metabolic Disease|November 27, 2012
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the diseaseXènia Ferrer-Cortès, Aida Font, Núria Bujan, et al.
Molecular Genetics and Metabolism|May 28, 2013
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduriaFrederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, et al.
Blood|October 24, 2002
CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomasFrederic Tort, Silvia Hernàndez, Silvia Beà, et al.
Molecular Genetics and Metabolism|September 18, 2012
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patientsAleix Navarro-Sastre, Frederic Tort, Judit Garcia-Villoria, et al.
Human Molecular Genetics|November 22, 2013
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexesFrederic Tort, Xènia Ferrer-Cortès, Marta Thió, et al.
Molecular Genetics and Metabolism Reports|December 28, 2020
Leigh syndrome associated with TRMU gene mutationsJúlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de Las Heras, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 19, 2025
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in miceEulàlia Segur-Bailach, Anna Mateu-Bosch, Xavier Bofill-De Ros, et al.
Mitochondrion|November 7, 2025
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndromeOlatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
International Journal of Molecular Sciences|October 27, 2022
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 DeficiencyGerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, et al.
Molecular Genetics and Metabolism|November 6, 2020
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolutionFrederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, et al.
Journal of Inherited Metabolic Disease|November 27, 2012
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the diseaseXènia Ferrer-Cortès, Aida Font, Núria Bujan, et al.
Molecular Genetics and Metabolism|May 28, 2013
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduriaFrederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, et al.
Blood|October 24, 2002
CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomasFrederic Tort, Silvia Hernàndez, Silvia Beà, et al.
Molecular Genetics and Metabolism|September 18, 2012
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patientsAleix Navarro-Sastre, Frederic Tort, Judit Garcia-Villoria, et al.
Human Molecular Genetics|November 22, 2013
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexesFrederic Tort, Xènia Ferrer-Cortès, Marta Thió, et al.
Molecular Genetics and Metabolism Reports|December 28, 2020
Leigh syndrome associated with TRMU gene mutationsJúlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de Las Heras, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 19, 2025
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in miceEulàlia Segur-Bailach, Anna Mateu-Bosch, Xavier Bofill-De Ros, et al.
Mitochondrion|November 7, 2025
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndromeOlatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, et al.
Pageof 5