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Shamima Rahman

Showing results (71-80 of 182) with videos related to

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Journal of Inherited Metabolic Disease|July 7, 2012
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatmentKate E C Duberley, Andrey Y Abramov, Annapurna Chalasani, et al.
Journal of Medical Genetics|September 21, 2011
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathyElisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, et al.
Journal of Inherited Metabolic Disease|January 18, 2015
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregationMarta Kanabus, Rojeen Shahni, José W Saldanha, et al.
Clinical Case Reports|September 4, 2023
IgG4-related retroperitoneal fibrosis: A case report of a challenging diseaseSaika Farook, Md Shariful Alam Jilani, Md Kamrul Islam, et al.
Neuropathology and Applied Neurobiology|October 28, 2014
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathyYehani Wedatilake, Vincent Plagnol, Glenn Anderson, et al.
Neurochemistry International|October 22, 2013
Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen speciesSophie-Beth Aylett, Viruna Neergheen, Iain P Hargreaves, et al.
Neuroscience and Biobehavioral Reviews|May 17, 2021
Effect of neuropsychiatric medications on mitochondrial function: For better or for worseTim L Emmerzaal, Gerben Nijkamp, Marin Veldic, et al.
American Journal of Human Genetics|May 7, 2005
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionOrly Elpeleg, Chaya Miller, Eli Hershkovitz, et al.
Plos One|August 7, 2010
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsLuis C López, Catarina M Quinzii, Estela Area, et al.
Drug Discovery Today|July 18, 2015
Can folic acid have a role in mitochondrial disorders?Aida Ormazabal, Mercedes Casado, Marta Molero-Luis, et al.
Pageof 19

Showing results (71-80 of 182) with videos related to

Sort By:
Pageof 19
Journal of Inherited Metabolic Disease|July 7, 2012
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatmentKate E C Duberley, Andrey Y Abramov, Annapurna Chalasani, et al.
Journal of Medical Genetics|September 21, 2011
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathyElisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, et al.
Journal of Inherited Metabolic Disease|January 18, 2015
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregationMarta Kanabus, Rojeen Shahni, José W Saldanha, et al.
Clinical Case Reports|September 4, 2023
IgG4-related retroperitoneal fibrosis: A case report of a challenging diseaseSaika Farook, Md Shariful Alam Jilani, Md Kamrul Islam, et al.
Neuropathology and Applied Neurobiology|October 28, 2014
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathyYehani Wedatilake, Vincent Plagnol, Glenn Anderson, et al.
Neurochemistry International|October 22, 2013
Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen speciesSophie-Beth Aylett, Viruna Neergheen, Iain P Hargreaves, et al.
Neuroscience and Biobehavioral Reviews|May 17, 2021
Effect of neuropsychiatric medications on mitochondrial function: For better or for worseTim L Emmerzaal, Gerben Nijkamp, Marin Veldic, et al.
American Journal of Human Genetics|May 7, 2005
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionOrly Elpeleg, Chaya Miller, Eli Hershkovitz, et al.
Plos One|August 7, 2010
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effectsLuis C López, Catarina M Quinzii, Estela Area, et al.
Drug Discovery Today|July 18, 2015
Can folic acid have a role in mitochondrial disorders?Aida Ormazabal, Mercedes Casado, Marta Molero-Luis, et al.
Pageof 19