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Holger Prokisch

Showing results (81-90 of 394) with videos related to

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Plos One|July 12, 2018
OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF AnalyzerVicente A Yépez, Laura S Kremer, Arcangela Iuso, et al.
Brain : a Journal of Neurology|June 24, 2021
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3Federica Invernizzi, Andrea Legati, Alessia Nasca, et al.
Plos One|May 7, 2015
Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride LevelsAntònia Flaquer, Susanne Rospleszcz, Eva Reischl, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 27, 2017
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolismCaroline Biagosch, Raga Deepthi Ediga, Svenja-Viola Hensler, et al.
Journal of Neurology|May 22, 2024
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patientsElisabetta Indelicato, Lea D Schlieben, Sarah L Stenton, et al.
Mitochondrion|October 11, 2016
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNAClaudia B Catarino, Uwe Ahting, Mirjana Gusic, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 22, 2024
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement DisordersElisabetta Indelicato, Luigi Michele Romito, Philip Harrer, et al.
Annals of Clinical and Translational Neurology|July 25, 2020
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytesMaike Werning, Ernst W Müllner, Georg Mlynek, et al.
Journal of Medical Genetics|January 20, 2016
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathyJohannes Koch, René G Feichtinger, Peter Freisinger, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
Pageof 40

Showing results (81-90 of 394) with videos related to

Sort By:
Pageof 40
Plos One|July 12, 2018
OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF AnalyzerVicente A Yépez, Laura S Kremer, Arcangela Iuso, et al.
Brain : a Journal of Neurology|June 24, 2021
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3Federica Invernizzi, Andrea Legati, Alessia Nasca, et al.
Plos One|May 7, 2015
Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride LevelsAntònia Flaquer, Susanne Rospleszcz, Eva Reischl, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 27, 2017
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolismCaroline Biagosch, Raga Deepthi Ediga, Svenja-Viola Hensler, et al.
Journal of Neurology|May 22, 2024
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patientsElisabetta Indelicato, Lea D Schlieben, Sarah L Stenton, et al.
Mitochondrion|October 11, 2016
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNAClaudia B Catarino, Uwe Ahting, Mirjana Gusic, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 22, 2024
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement DisordersElisabetta Indelicato, Luigi Michele Romito, Philip Harrer, et al.
Annals of Clinical and Translational Neurology|July 25, 2020
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytesMaike Werning, Ernst W Müllner, Georg Mlynek, et al.
Journal of Medical Genetics|January 20, 2016
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathyJohannes Koch, René G Feichtinger, Peter Freisinger, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
Pageof 40