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S Gorman

Showing results (251-260 of 299) with videos related to

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Clinical Science (London, England : 1979)|January 29, 2015
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expressionGrainne S Gorman, Emma L Blakely, Hue-Tran Hornig-Do, et al.
Wellcome Open Research|August 16, 2021
A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER ProjectAura Cecilia Jimenez-Moreno, Cathy Anne Pinto, Bennett Levitan, et al.
European Heart Journal|July 19, 2015
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsYi Shiau Ng, John P Grady, Nichola Z Lax, et al.
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.
Neurology. Genetics|August 19, 2016
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsySteven A Hardy, Emma L Blakely, Andrew I Purvis, et al.
Human Mutation|March 13, 2015
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 WorkshopFrancois H van der Westhuizen, Phumla Z Sinxadi, Collet Dandara, et al.
Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.
Journal of Inherited Metabolic Disease|November 7, 2020
Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"Laurence A Bindoff, David A Brown, Gráinne S Gorman, et al.
Annual Review of Statistics and Its Application|May 14, 2026
Statistical Methods in Aging Research: Improving Current Practices and Embracing Emerging ApproachesDeependra K Thapa, Erik S Parker, Mounika Kandukuri, et al.
Pageof 30

Showing results (251-260 of 299) with videos related to

Sort By:
Pageof 30
Clinical Science (London, England : 1979)|January 29, 2015
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expressionGrainne S Gorman, Emma L Blakely, Hue-Tran Hornig-Do, et al.
Wellcome Open Research|August 16, 2021
A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER ProjectAura Cecilia Jimenez-Moreno, Cathy Anne Pinto, Bennett Levitan, et al.
European Heart Journal|July 19, 2015
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsYi Shiau Ng, John P Grady, Nichola Z Lax, et al.
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.
Neurology. Genetics|August 19, 2016
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsySteven A Hardy, Emma L Blakely, Andrew I Purvis, et al.
Human Mutation|March 13, 2015
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 WorkshopFrancois H van der Westhuizen, Phumla Z Sinxadi, Collet Dandara, et al.
Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.
Journal of Inherited Metabolic Disease|November 7, 2020
Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"Laurence A Bindoff, David A Brown, Gráinne S Gorman, et al.
Annual Review of Statistics and Its Application|May 14, 2026
Statistical Methods in Aging Research: Improving Current Practices and Embracing Emerging ApproachesDeependra K Thapa, Erik S Parker, Mounika Kandukuri, et al.
Pageof 30