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Holger Prokisch

Showing results (181-190 of 395) with videos related to

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Nature Genetics|March 11, 2008
SLC2A9 influences uric acid concentrations with pronounced sex-specific effectsAngela Döring, Christian Gieger, Divya Mehta, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Nature Metabolism|May 8, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseAndrew Y Sung, Rachel M Guerra, Laura H Steenberge, et al.
Human Molecular Genetics|January 2, 2015
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary interventionChristin Tischner, Annette Hofer, Veronika Wulff, et al.
Clinical Genetics|September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohortAmelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
EMBO Molecular Medicine|November 19, 2016
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndromeMarta Luna-Sánchez, Agustín Hidalgo-Gutiérrez, Tatjana M Hildebrandt, et al.
Hepatology Communications|December 2, 2024
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failureLea D Schlieben, Melanie T Achleitner, Billy Bourke, et al.
Brain : a Journal of Neurology|December 3, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegenerationEliska Holzerova, Katharina Danhauser, Tobias B Haack, et al.
Journal of Neurology|March 21, 2016
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registryJudith Altmann, Boriana Büchner, Aleksandra Nadaj-Pakleza, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Pageof 40

Showing results (181-190 of 395) with videos related to

Sort By:
Pageof 40
Nature Genetics|March 11, 2008
SLC2A9 influences uric acid concentrations with pronounced sex-specific effectsAngela Döring, Christian Gieger, Divya Mehta, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Nature Metabolism|May 8, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseAndrew Y Sung, Rachel M Guerra, Laura H Steenberge, et al.
Human Molecular Genetics|January 2, 2015
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary interventionChristin Tischner, Annette Hofer, Veronika Wulff, et al.
Clinical Genetics|September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohortAmelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
EMBO Molecular Medicine|November 19, 2016
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndromeMarta Luna-Sánchez, Agustín Hidalgo-Gutiérrez, Tatjana M Hildebrandt, et al.
Hepatology Communications|December 2, 2024
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failureLea D Schlieben, Melanie T Achleitner, Billy Bourke, et al.
Brain : a Journal of Neurology|December 3, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegenerationEliska Holzerova, Katharina Danhauser, Tobias B Haack, et al.
Journal of Neurology|March 21, 2016
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registryJudith Altmann, Boriana Büchner, Aleksandra Nadaj-Pakleza, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Pageof 40