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Jerry Vockley

Showing results (281-290 of 295) with videos related to

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Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Molecular Genetics and Metabolism|September 26, 2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence baseKathryn M Camp, Danuta Krotoski, Melissa A Parisi, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Nature Metabolism|November 23, 2023
Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndromeValerian E Kagan, Yulia Y Tyurina, Karolina Mikulska-Ruminska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
Pageof 30

Showing results (281-290 of 295) with videos related to

Sort By:
Pageof 30
Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Molecular Genetics and Metabolism|September 26, 2016
Nutritional interventions in primary mitochondrial disorders: Developing an evidence baseKathryn M Camp, Danuta Krotoski, Melissa A Parisi, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Nature Metabolism|November 23, 2023
Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndromeValerian E Kagan, Yulia Y Tyurina, Karolina Mikulska-Ruminska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
Pageof 30