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Sara Shanske

Showing results (31-40 of 45) with videos related to

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Archives of Neurology|August 16, 2006
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 geneMaryam Oskoui, Guido Davidzon, Juan Pascual, et al.
Pediatric Research|January 23, 2003
Mutation screening in patients with isolated cytochrome c oxidase deficiencySabrina Sacconi, Leonardo Salviati, Carolyn M Sue, et al.
Archives of Neurology|September 17, 2003
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gammaMassimiliano Filosto, Michelangelo Mancuso, Yutaka Nishigaki, et al.
Journal of Child Neurology|October 18, 2005
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutationsStacey K H Tay, Sabrina Sacconi, H Ohran Akman, et al.
Pediatric Research|August 2, 2007
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinaseHasan O Akman, James N Sampayo, Fiona A Ross, et al.
Archives of Neurology|August 13, 2008
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationsAntonella Spinazzola, René Santer, Orhan H Akman, et al.
American Journal of Human Genetics|August 2, 2002
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndromeSara Shanske, Yingying Tang, Michio Hirano, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
European Journal of Pediatrics|September 25, 2007
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid geneJohan L K Van Hove, Cynthia Freehauf, Shelley Miyamoto, et al.
Archives of Neurology|May 22, 2002
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann diseaseLeonardo Salviati, Sabrina Sacconi, Minerva M Rasalan, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Archives of Neurology|August 16, 2006
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 geneMaryam Oskoui, Guido Davidzon, Juan Pascual, et al.
Pediatric Research|January 23, 2003
Mutation screening in patients with isolated cytochrome c oxidase deficiencySabrina Sacconi, Leonardo Salviati, Carolyn M Sue, et al.
Archives of Neurology|September 17, 2003
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gammaMassimiliano Filosto, Michelangelo Mancuso, Yutaka Nishigaki, et al.
Journal of Child Neurology|October 18, 2005
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutationsStacey K H Tay, Sabrina Sacconi, H Ohran Akman, et al.
Pediatric Research|August 2, 2007
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinaseHasan O Akman, James N Sampayo, Fiona A Ross, et al.
Archives of Neurology|August 13, 2008
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationsAntonella Spinazzola, René Santer, Orhan H Akman, et al.
American Journal of Human Genetics|August 2, 2002
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndromeSara Shanske, Yingying Tang, Michio Hirano, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
European Journal of Pediatrics|September 25, 2007
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid geneJohan L K Van Hove, Cynthia Freehauf, Shelley Miyamoto, et al.
Archives of Neurology|May 22, 2002
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann diseaseLeonardo Salviati, Sabrina Sacconi, Minerva M Rasalan, et al.
Pageof 5