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J Smeitink

Showing results (11-20 of 48) with videos related to

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Journal of Bioenergetics and Biomembranes|November 7, 2001
Human NADH:ubiquinone oxidoreductaseJ Smeitink, R Sengers, F Trijbels, et al.
Biochemical and Biophysical Research Communications|May 8, 1998
Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?M Schuelke, J Loeffen, E Mariman, et al.
Journal of Inherited Metabolic Disease|January 7, 2004
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villiL Niers, L van den Heuvel, F Trijbels, et al.
Lancet (London, England)|April 26, 1997
New treatment strategy for Smith-Lemli-Opitz syndromeP Jira, R Wevers, J de Jong, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondriaJ Smeitink, W Ruitenbeek, R Sengers, et al.
Human Genetics|December 22, 1998
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patientsR Triepels, L van den Heuvel, J Loeffen, et al.
Human Genetics|June 1, 2000
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patientsR Triepels, J Smeitink, J Loeffen, et al.
Biofactors (Oxford, England)|May 6, 1998
Disturbances in mitochondrial transport systems leading to encephalomyopathiesF Trijbels, M Huizing, W Ruitenbeek, et al.
Nederlands Tijdschrift Voor Geneeskunde|March 21, 1987
[Prune-belly syndrome: experiences with 9 patients]J Smeitink, B C Hamel, R van Empelen, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegiaJ Smeitink, A Stadhouders, R Sengers, et al.
Pageof 5

Showing results (11-20 of 48) with videos related to

Sort By:
Pageof 5
Journal of Bioenergetics and Biomembranes|November 7, 2001
Human NADH:ubiquinone oxidoreductaseJ Smeitink, R Sengers, F Trijbels, et al.
Biochemical and Biophysical Research Communications|May 8, 1998
Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?M Schuelke, J Loeffen, E Mariman, et al.
Journal of Inherited Metabolic Disease|January 7, 2004
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villiL Niers, L van den Heuvel, F Trijbels, et al.
Lancet (London, England)|April 26, 1997
New treatment strategy for Smith-Lemli-Opitz syndromeP Jira, R Wevers, J de Jong, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondriaJ Smeitink, W Ruitenbeek, R Sengers, et al.
Human Genetics|December 22, 1998
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patientsR Triepels, L van den Heuvel, J Loeffen, et al.
Human Genetics|June 1, 2000
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patientsR Triepels, J Smeitink, J Loeffen, et al.
Biofactors (Oxford, England)|May 6, 1998
Disturbances in mitochondrial transport systems leading to encephalomyopathiesF Trijbels, M Huizing, W Ruitenbeek, et al.
Nederlands Tijdschrift Voor Geneeskunde|March 21, 1987
[Prune-belly syndrome: experiences with 9 patients]J Smeitink, B C Hamel, R van Empelen, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegiaJ Smeitink, A Stadhouders, R Sengers, et al.
Pageof 5