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Ann Saada

Showing results (61-70 of 144) with videos related to

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American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.
American Journal of Human Genetics|March 10, 2009
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 geneEyal Shteyer, Ann Saada, Avraham Shaag, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 18, 2013
Mitochondrial OXPHOS function is unaffected by chronic azithromycin treatmentShelly Ben-Harush Negari, Tzemach Aouizerat, Ariel Tenenbaum, et al.
Journal of Neuroscience Research|October 16, 2009
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disordersEugenia Yakunin, Ann Moser, Virginie Loeb, et al.
Journal of Inherited Metabolic Disease|May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
American Journal of Human Genetics|September 12, 2007
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson, Avraham Shaag, Olga Kolesnikova, et al.
American Journal of Physiology. Endocrinology and Metabolism|January 16, 2014
IL-1β hampers glucose-stimulated insulin secretion in Cohen diabetic rat islets through mitochondrial cytochrome c oxidase inhibition by nitric oxideSarah Weksler-Zangen, Genya Aharon-Hananel, Carmit Mantzur, et al.
American Journal of Human Genetics|January 9, 2008
C6ORF66 is an assembly factor of mitochondrial complex IAnn Saada, Simon Edvardson, Matan Rapoport, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathyUlla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, et al.
European Journal of Human Genetics : EJHG|August 3, 2017
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemiaBassam Abu-Libdeh, Liza Douiev, Sarah Amro, et al.
Pageof 15

Showing results (61-70 of 144) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.
American Journal of Human Genetics|March 10, 2009
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 geneEyal Shteyer, Ann Saada, Avraham Shaag, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 18, 2013
Mitochondrial OXPHOS function is unaffected by chronic azithromycin treatmentShelly Ben-Harush Negari, Tzemach Aouizerat, Ariel Tenenbaum, et al.
Journal of Neuroscience Research|October 16, 2009
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disordersEugenia Yakunin, Ann Moser, Virginie Loeb, et al.
Journal of Inherited Metabolic Disease|May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
American Journal of Human Genetics|September 12, 2007
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson, Avraham Shaag, Olga Kolesnikova, et al.
American Journal of Physiology. Endocrinology and Metabolism|January 16, 2014
IL-1β hampers glucose-stimulated insulin secretion in Cohen diabetic rat islets through mitochondrial cytochrome c oxidase inhibition by nitric oxideSarah Weksler-Zangen, Genya Aharon-Hananel, Carmit Mantzur, et al.
American Journal of Human Genetics|January 9, 2008
C6ORF66 is an assembly factor of mitochondrial complex IAnn Saada, Simon Edvardson, Matan Rapoport, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathyUlla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, et al.
European Journal of Human Genetics : EJHG|August 3, 2017
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemiaBassam Abu-Libdeh, Liza Douiev, Sarah Amro, et al.
Pageof 15