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Felix Distelmaier

Showing results (71-80 of 151) with videos related to

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Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Molecular Genetics and Metabolism|May 30, 2017
Detection of 6-demethoxyubiquinone in CoQ<sub>10</sub> deficiency disorders: Insights into enzyme interactions and identification of potential therapeuticsDiran Herebian, Annette Seibt, Sander H J Smits, et al.
Cytometry. Part a : the Journal of the International Society for Analytical Cytology|January 1, 2008
Life cell quantification of mitochondrial membrane potential at the single organelle levelFelix Distelmaier, Werner J H Koopman, Epifania R Testa, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
The Journal of Pediatrics|February 4, 2018
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 VariantFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.
Brain : a Journal of Neurology|April 18, 2024
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemiaFelix Distelmaier, Abdullah Sezer, Christina Helm, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDSilke Redler, Tim M Strom, Thomas Wieland, et al.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
Human Mutation|October 24, 2014
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathyFabian Baertling, Mariel A M van den Brand, Jozef L Hertecant, et al.
Antioxidants & Redox Signaling|May 8, 2012
Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cellsFelix Distelmaier, Federica Valsecchi, Marleen Forkink, et al.
Pageof 16

Showing results (71-80 of 151) with videos related to

Sort By:
Pageof 16
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Molecular Genetics and Metabolism|May 30, 2017
Detection of 6-demethoxyubiquinone in CoQ<sub>10</sub> deficiency disorders: Insights into enzyme interactions and identification of potential therapeuticsDiran Herebian, Annette Seibt, Sander H J Smits, et al.
Cytometry. Part a : the Journal of the International Society for Analytical Cytology|January 1, 2008
Life cell quantification of mitochondrial membrane potential at the single organelle levelFelix Distelmaier, Werner J H Koopman, Epifania R Testa, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
The Journal of Pediatrics|February 4, 2018
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 VariantFabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, et al.
Brain : a Journal of Neurology|April 18, 2024
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemiaFelix Distelmaier, Abdullah Sezer, Christina Helm, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDSilke Redler, Tim M Strom, Thomas Wieland, et al.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
Human Mutation|October 24, 2014
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathyFabian Baertling, Mariel A M van den Brand, Jozef L Hertecant, et al.
Antioxidants & Redox Signaling|May 8, 2012
Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cellsFelix Distelmaier, Federica Valsecchi, Marleen Forkink, et al.
Pageof 16