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Richard Rodenburg

Showing results (21-30 of 33) with videos related to

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BMJ Case Reports|June 21, 2011
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathyAn I Jonckheere, Marije Hogeveen, Leo Nijtmans, et al.
Plos Biology|June 24, 2025
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editorsIndi P Joore, Sawsan Shehata, Irena Muffels, et al.
Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Cell Reports|April 23, 2020
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and SynchronicityTeun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Biorxiv : the Preprint Server for Biology|December 18, 2023
<i>SIRT5</i> variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathologyTaolin Yuan, Surinder Kumar, Mary Skinner, et al.
Iscience|June 7, 2024
Human SIRT5 variants with reduced stability and activity do not cause neuropathology in miceTaolin Yuan, Surinder Kumar, Mary E Skinner, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
BMJ Case Reports|June 21, 2011
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathyAn I Jonckheere, Marije Hogeveen, Leo Nijtmans, et al.
Plos Biology|June 24, 2025
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editorsIndi P Joore, Sawsan Shehata, Irena Muffels, et al.
Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Cell Reports|April 23, 2020
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and SynchronicityTeun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Biorxiv : the Preprint Server for Biology|December 18, 2023
<i>SIRT5</i> variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathologyTaolin Yuan, Surinder Kumar, Mary Skinner, et al.
Iscience|June 7, 2024
Human SIRT5 variants with reduced stability and activity do not cause neuropathology in miceTaolin Yuan, Surinder Kumar, Mary E Skinner, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pageof 4