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R Scholte

Showing results (71-80 of 83) with videos related to

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Pediatric Research|April 1, 1993
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defectH D Bakker, H R Scholte, C Van den Bogert, et al.
Neurology|January 27, 1998
A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodesI F de Coo, E A Sistermans, I J de Wijs, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndromeJ M van den Ouweland, J B de Klerk, M P van de Corput, et al.
Journal of the Neurological Sciences|December 1, 1983
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesP G Barth, H R Scholte, J A Berden, et al.
Molecular Human Reproduction|February 15, 2005
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutationL J A M Jacobs, I F M de Coo, J G Nijland, et al.
Journal of Inherited Metabolic Disease|February 19, 2004
Pearson syndrome and the role of deletion dimers and duplications in the mtDNAL J A M Jacobs, R J E Jongbloed, F A Wijburg, et al.
Cardiovascular Research|January 11, 2005
Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout miceBianca J C van den Bosch, Caroline M M van den Burg, Kees Schoonderwoerd, et al.
Brain : a Journal of Neurology|February 21, 2013
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndromeMike Gerards, Rick Kamps, Jo van Oevelen, et al.
Brain : a Journal of Neurology|October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old geneMike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.
Journal of Medical Genetics|June 23, 2009
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndromeM Gerards, W Sluiter, B J C van den Bosch, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Pediatric Research|April 1, 1993
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defectH D Bakker, H R Scholte, C Van den Bogert, et al.
Neurology|January 27, 1998
A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodesI F de Coo, E A Sistermans, I J de Wijs, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndromeJ M van den Ouweland, J B de Klerk, M P van de Corput, et al.
Journal of the Neurological Sciences|December 1, 1983
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesP G Barth, H R Scholte, J A Berden, et al.
Molecular Human Reproduction|February 15, 2005
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutationL J A M Jacobs, I F M de Coo, J G Nijland, et al.
Journal of Inherited Metabolic Disease|February 19, 2004
Pearson syndrome and the role of deletion dimers and duplications in the mtDNAL J A M Jacobs, R J E Jongbloed, F A Wijburg, et al.
Cardiovascular Research|January 11, 2005
Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout miceBianca J C van den Bosch, Caroline M M van den Burg, Kees Schoonderwoerd, et al.
Brain : a Journal of Neurology|February 21, 2013
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndromeMike Gerards, Rick Kamps, Jo van Oevelen, et al.
Brain : a Journal of Neurology|October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old geneMike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.
Journal of Medical Genetics|June 23, 2009
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndromeM Gerards, W Sluiter, B J C van den Bosch, et al.
Pageof 9