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American Journal of Medical Genetics. Part A
|
March 15, 2006
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
Eva Morava, Richard J Rodenburg, Frans Hol, et al.
JIMD Reports
|
July 14, 2021
Human d-lactate dehydrogenase deficiency by <i>LDHD</i> mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Anna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg, et al.
European Journal of Pediatrics
|
May 29, 2004
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
Eva Morava, Rob Sengers, Henk Ter Laak, et al.
Scientific Reports
|
September 24, 2020
Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons
Aurelie Schwartzentruber, Camilla Boschian, Fernanda Martins Lopes, et al.
Journal of Inherited Metabolic Disease
|
March 14, 2018
Quantification of gait in children with mitochondrial disease
Saskia Koene, Niki M Stolwijk, Rob Ramakers, et al.
Epilepsia Open
|
August 11, 2021
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes
Anna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong, et al.
The Biochemical Journal
|
January 13, 2006
Metallothionein isoform 2A expression is inducible and protects against ROS-mediated cell death in rotenone-treated HeLa cells
Fimmie Reinecke, Oksana Levanets, Yolanda Olivier, et al.
European Journal of Pediatrics
|
August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Journal of Child Neurology
|
April 16, 2003
Application of a ketogenic diet in children with autistic behavior: pilot study
Athanasios Evangeliou, Ioannis Vlachonikolis, Helen Mihailidou, et al.
Clinical Pharmacology and Therapeutics
|
July 31, 2018
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders
Mirian C H Janssen, Saskia Koene, Paul de Laat, et al.
Page
of 8
Search research articles
Search
Showing results (41-50 of 74) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
March 15, 2006
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
Eva Morava, Richard J Rodenburg, Frans Hol, et al.
JIMD Reports
|
July 14, 2021
Human d-lactate dehydrogenase deficiency by <i>LDHD</i> mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Anna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg, et al.
European Journal of Pediatrics
|
May 29, 2004
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
Eva Morava, Rob Sengers, Henk Ter Laak, et al.
Scientific Reports
|
September 24, 2020
Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons
Aurelie Schwartzentruber, Camilla Boschian, Fernanda Martins Lopes, et al.
Journal of Inherited Metabolic Disease
|
March 14, 2018
Quantification of gait in children with mitochondrial disease
Saskia Koene, Niki M Stolwijk, Rob Ramakers, et al.
Epilepsia Open
|
August 11, 2021
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes
Anna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong, et al.
The Biochemical Journal
|
January 13, 2006
Metallothionein isoform 2A expression is inducible and protects against ROS-mediated cell death in rotenone-treated HeLa cells
Fimmie Reinecke, Oksana Levanets, Yolanda Olivier, et al.
European Journal of Pediatrics
|
August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Journal of Child Neurology
|
April 16, 2003
Application of a ketogenic diet in children with autistic behavior: pilot study
Athanasios Evangeliou, Ioannis Vlachonikolis, Helen Mihailidou, et al.
Clinical Pharmacology and Therapeutics
|
July 31, 2018
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders
Mirian C H Janssen, Saskia Koene, Paul de Laat, et al.
Page
of 8