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Roel Smeets

Showing results (1-10 of 13) with videos related to

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Human Genetics|April 6, 2002
CIA30 complex I assembly factor: a candidate for human complex I deficiency?Rolf Janssen, Jan Smeitink, Roel Smeets, 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 mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Molecular Genetics and Metabolism|September 26, 2006
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndromeCristina Ugalde, Reetta Hinttala, Sharita Timal, et al.
Annals of Neurology|January 31, 2007
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathyDaniel Fernandez-Moreira, Cristina Ugalde, Roel Smeets, et al.
Annals of Neurology|November 5, 2003
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 geneCristina Ugalde, Ralf H Triepels, Marieke J H Coenen, et al.
The New England Journal of Medicine|May 29, 2009
Inactivating PAPSS2 mutations in a patient with premature pubarcheCees Noordam, Vivek Dhir, Joanne C McNelis, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Human Molecular Genetics|December 25, 2007
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytomaGiuseppe Gasparre, Eric Hervouet, Elodie de Laplanche, et al.
Human Molecular Genetics|July 11, 2014
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityBas F J Wanschers, Radek Szklarczyk, Mariël A M van den Brand, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Human Genetics|April 6, 2002
CIA30 complex I assembly factor: a candidate for human complex I deficiency?Rolf Janssen, Jan Smeitink, Roel Smeets, 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 mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Molecular Genetics and Metabolism|September 26, 2006
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndromeCristina Ugalde, Reetta Hinttala, Sharita Timal, et al.
Annals of Neurology|January 31, 2007
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathyDaniel Fernandez-Moreira, Cristina Ugalde, Roel Smeets, et al.
Annals of Neurology|November 5, 2003
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 geneCristina Ugalde, Ralf H Triepels, Marieke J H Coenen, et al.
The New England Journal of Medicine|May 29, 2009
Inactivating PAPSS2 mutations in a patient with premature pubarcheCees Noordam, Vivek Dhir, Joanne C McNelis, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Human Molecular Genetics|December 25, 2007
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytomaGiuseppe Gasparre, Eric Hervouet, Elodie de Laplanche, et al.
Human Molecular Genetics|July 11, 2014
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityBas F J Wanschers, Radek Szklarczyk, Mariël A M van den Brand, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
Pageof 2