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

Fernando Scaglia

Showing results (131-140 of 190) with videos related to

Pageof 19
Sort By:
Molecular Genetics and Metabolism|July 20, 2014
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneLindsay C Burrage, Sha Tang, Jing Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disordersLindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup, et al.
The EMBO Journal|August 7, 2004
Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failureMotoaki Sano, Sam C Wang, Manabu Shirai, et al.
Advanced Genetics (Hoboken, N.J.)|March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial DiseaseAmel Karaa, Laura E MacMullen, John C Campbell, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Characterization of the renal phenotype in RMND1-related mitochondrial diseaseBrian J Shayota, Nhon T Le, Nasim Bekheirnia, et al.
Molecular Genetics and Metabolism|May 23, 2022
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
JIMD Reports|June 30, 2026
JAK Inhibition in <i>PNPT1</i>-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune CrosstalkDan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, et al.
Journal of Patient-Reported Outcomes|October 27, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectivesPaolo Medrano, Benjamin Banderas, Marisa Brimmer, et al.
Neurology|January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trialKaren L Madsen, Astrid E Buch, Bruce H Cohen, et al.
Pageof 19

Showing results (131-140 of 190) with videos related to

Sort By:
Pageof 19
Molecular Genetics and Metabolism|July 20, 2014
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneLindsay C Burrage, Sha Tang, Jing Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disordersLindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup, et al.
The EMBO Journal|August 7, 2004
Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failureMotoaki Sano, Sam C Wang, Manabu Shirai, et al.
Advanced Genetics (Hoboken, N.J.)|March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial DiseaseAmel Karaa, Laura E MacMullen, John C Campbell, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Characterization of the renal phenotype in RMND1-related mitochondrial diseaseBrian J Shayota, Nhon T Le, Nasim Bekheirnia, et al.
Molecular Genetics and Metabolism|May 23, 2022
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
JIMD Reports|June 30, 2026
JAK Inhibition in <i>PNPT1</i>-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune CrosstalkDan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, et al.
Journal of Patient-Reported Outcomes|October 27, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectivesPaolo Medrano, Benjamin Banderas, Marisa Brimmer, et al.
Neurology|January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trialKaren L Madsen, Astrid E Buch, Bruce H Cohen, et al.
Pageof 19