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S Gorman

Showing results (261-270 of 299) with videos related to

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Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.
Journal of Inherited Metabolic Disease|February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensusMaaike C De Vries, David A Brown, Mitchell E Allen, et al.
Neurology|June 8, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsC Fratter, P Raman, C L Alston, et al.
Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
International Journal of Cardiology|June 8, 2013
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial diseaseMatthew G D Bates, Jane H Newman, Djordje G Jakovljevic, et al.
Neurology|May 19, 2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEOC Fratter, G S Gorman, J D Stewart, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
ADT-030, a novel PDE10 inhibitor, demonstrates potent antitumor activity in pancreatic ductal adenocarcinomaDhana Sekhar Reddy Bandi, Ganji Purnachandra Nagaraju, Sujith Sarvesh, et al.
European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.
Pageof 30

Showing results (261-270 of 299) with videos related to

Sort By:
Pageof 30
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.
Journal of Inherited Metabolic Disease|February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensusMaaike C De Vries, David A Brown, Mitchell E Allen, et al.
Neurology|June 8, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletionsC Fratter, P Raman, C L Alston, et al.
Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
International Journal of Cardiology|June 8, 2013
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial diseaseMatthew G D Bates, Jane H Newman, Djordje G Jakovljevic, et al.
Neurology|May 19, 2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEOC Fratter, G S Gorman, J D Stewart, et al.
Biorxiv : the Preprint Server for Biology|February 23, 2026
ADT-030, a novel PDE10 inhibitor, demonstrates potent antitumor activity in pancreatic ductal adenocarcinomaDhana Sekhar Reddy Bandi, Ganji Purnachandra Nagaraju, Sujith Sarvesh, et al.
European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.
Pageof 30