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Jan Smeitink

Showing results (11-20 of 74) with videos related to

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American Journal of Medical Genetics. Part A|September 14, 2006
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutationEva Morava, Ben Hamel, Frans Hol, et al.
Current Opinion in Neurology|March 17, 2004
Complex I assembly: a puzzling problemRutger Vogel, Leo Nijtmans, Cristina Ugalde, et al.
JIMD Reports|June 27, 2019
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patientsJan Smeitink, Saskia Koene, Julien Beyrath, et al.
BMC Neurology|April 28, 2022
A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms ("KHENERGYC")Jan Smeitink, Rob van Maanen, Lonneke de Boer, et al.
Journal of Inherited Metabolic Disease|June 21, 2006
Dietary intervention and oxidative phosphorylation capacityEva Morava, Richard Rodenburg, Heidi Zweers van Essen, et al.
Human Molecular Genetics|August 20, 2004
Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficienciesCristina Ugalde, Rutger Vogel, Richard Huijbens, et al.
Paediatric Anaesthesia|December 23, 2006
Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defectsJacques Driessen, Simone Willems, Sander Dercksen, et al.
Biology of the Neonate|May 31, 2006
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolismEva Morava, Marije Hogeveen, Maaike De Vries, et al.
Orphanet Journal of Rare Diseases|May 17, 2017
Quantification of gait in mitochondrial m.3243A > G patients: a validation studyRob Ramakers, Saskia Koene, Jan T Groothuis, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 13, 2007
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutationGretha van de Glind, Maaike de Vries, Richard Rodenburg, et al.
Pageof 8

Showing results (11-20 of 74) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|September 14, 2006
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutationEva Morava, Ben Hamel, Frans Hol, et al.
Current Opinion in Neurology|March 17, 2004
Complex I assembly: a puzzling problemRutger Vogel, Leo Nijtmans, Cristina Ugalde, et al.
JIMD Reports|June 27, 2019
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patientsJan Smeitink, Saskia Koene, Julien Beyrath, et al.
BMC Neurology|April 28, 2022
A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms ("KHENERGYC")Jan Smeitink, Rob van Maanen, Lonneke de Boer, et al.
Journal of Inherited Metabolic Disease|June 21, 2006
Dietary intervention and oxidative phosphorylation capacityEva Morava, Richard Rodenburg, Heidi Zweers van Essen, et al.
Human Molecular Genetics|August 20, 2004
Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficienciesCristina Ugalde, Rutger Vogel, Richard Huijbens, et al.
Paediatric Anaesthesia|December 23, 2006
Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defectsJacques Driessen, Simone Willems, Sander Dercksen, et al.
Biology of the Neonate|May 31, 2006
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolismEva Morava, Marije Hogeveen, Maaike De Vries, et al.
Orphanet Journal of Rare Diseases|May 17, 2017
Quantification of gait in mitochondrial m.3243A > G patients: a validation studyRob Ramakers, Saskia Koene, Jan T Groothuis, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 13, 2007
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutationGretha van de Glind, Maaike de Vries, Richard Rodenburg, et al.
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