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Andrew M Schaefer

Showing results (41-50 of 60) with videos related to

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Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Brain : a Journal of Neurology|December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.
Annals of Neurology|July 26, 2016
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combinationYi Shiau Ng, Catherine Feeney, Andrew M Schaefer, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, et al.
Annals of Neurology|December 29, 2017
Pathological mechanisms underlying single large-scale mitochondrial DNA deletionsMariana C Rocha, Hannah S Rosa, John P Grady, 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.
Molecular Genetics and Metabolism|April 10, 2025
Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049]Kinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Molecular Genetics and Metabolism|February 22, 2025
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunctionKinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Pageof 6

Showing results (41-50 of 60) with videos related to

Sort By:
Pageof 6
Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.
Brain : a Journal of Neurology|December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.
Annals of Neurology|July 26, 2016
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combinationYi Shiau Ng, Catherine Feeney, Andrew M Schaefer, et al.
JAMA Neurology|November 25, 2014
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28Gráinne S Gorman, Gerald Pfeffer, Helen Griffin, et al.
Neurology|November 8, 2013
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletionsCharlotte L Alston, Andrew M Schaefer, Pravrutha Raman, et al.
EMBO Molecular Medicine|May 9, 2018
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial diseaseJohn P Grady, Sarah J Pickett, Yi Shiau Ng, et al.
Annals of Neurology|December 29, 2017
Pathological mechanisms underlying single large-scale mitochondrial DNA deletionsMariana C Rocha, Hannah S Rosa, John P Grady, 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.
Molecular Genetics and Metabolism|April 10, 2025
Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049]Kinsley Belle, Alexander Kreymerman, Jill L Young, et al.
Molecular Genetics and Metabolism|February 22, 2025
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunctionKinsley Belle, Alexander Kreymerman, Jill L Young, et al.
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