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F Trijbels

Showing results (31-40 of 39) with videos related to

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Annals of Neurology|February 28, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyJ Loeffen, O Elpeleg, J Smeitink, et al.
American Journal of Human Genetics|December 5, 1998
The first nuclear-encoded complex I mutation in a patient with Leigh syndromeJ Loeffen, J Smeitink, R Triepels, et al.
Journal of Inherited Metabolic Disease|November 8, 2003
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) geneO Grafakou, F A Hol, K Otfried Schwab, et al.
European Journal of Biochemistry|February 1, 1995
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathiesH Bentlage, R de Coo, H ter Laak, et al.
American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.
American Journal of Human Genetics|December 18, 1997
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patientM Huizing, V Iacobazzi, L Ijlst, et al.
Neuropediatrics|August 12, 2003
New pattern of brain MRI lesions in isolated complex I deficiencyN I Wolf, A Seitz, I Harting, et al.
Neuropediatrics|June 10, 2005
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruptionH L M van Straaten, J P van Tintelen, J M F Trijbels, et al.
The New England Journal of Medicine|November 13, 2004
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiencyMarieke J H Coenen, Hana Antonicka, Cristina Ugalde, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Annals of Neurology|February 28, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyJ Loeffen, O Elpeleg, J Smeitink, et al.
American Journal of Human Genetics|December 5, 1998
The first nuclear-encoded complex I mutation in a patient with Leigh syndromeJ Loeffen, J Smeitink, R Triepels, et al.
Journal of Inherited Metabolic Disease|November 8, 2003
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) geneO Grafakou, F A Hol, K Otfried Schwab, et al.
European Journal of Biochemistry|February 1, 1995
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathiesH Bentlage, R de Coo, H ter Laak, et al.
American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.
American Journal of Human Genetics|December 18, 1997
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patientM Huizing, V Iacobazzi, L Ijlst, et al.
Neuropediatrics|August 12, 2003
New pattern of brain MRI lesions in isolated complex I deficiencyN I Wolf, A Seitz, I Harting, et al.
Neuropediatrics|June 10, 2005
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruptionH L M van Straaten, J P van Tintelen, J M F Trijbels, et al.
The New England Journal of Medicine|November 13, 2004
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiencyMarieke J H Coenen, Hana Antonicka, Cristina Ugalde, et al.
Pageof 4