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M Jaksch

Showing results (31-40 of 38) with videos related to

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European Journal of Medical Research|December 21, 2000
Interaction of the G protein beta 3 subunit T825 allele and the IRS-1 Arg972 variant in type 2 diabetesD Rosskopf, U Frey, S Eckhardt, et al.
Annals of Neurology|October 20, 1998
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) geneM Jaksch, T Klopstock, G Kurlemann, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
Two families with autosomal dominant progressive external ophthalmoplegiaS Kiechl, R Horváth, P Luoma, et al.
Nucleic Acids Research|December 11, 1999
MITOP, the mitochondrial proteome database: 2000 updateC Scharfe, P Zaccaria, K Hoertnagel, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismR Horváth, P Freisinger, R Rubio, et al.
Annals of Neurology|August 12, 1999
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyV Tiranti, M Jaksch, S Hofmann, et al.
Human Molecular Genetics|December 26, 2001
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblastsM Jaksch, C Paret, R Stucka, et al.
Neurology|October 24, 2001
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathyM Jaksch, R Horvath, N Horn, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
European Journal of Medical Research|December 21, 2000
Interaction of the G protein beta 3 subunit T825 allele and the IRS-1 Arg972 variant in type 2 diabetesD Rosskopf, U Frey, S Eckhardt, et al.
Annals of Neurology|October 20, 1998
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) geneM Jaksch, T Klopstock, G Kurlemann, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
Two families with autosomal dominant progressive external ophthalmoplegiaS Kiechl, R Horváth, P Luoma, et al.
Nucleic Acids Research|December 11, 1999
MITOP, the mitochondrial proteome database: 2000 updateC Scharfe, P Zaccaria, K Hoertnagel, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolismR Horváth, P Freisinger, R Rubio, et al.
Annals of Neurology|August 12, 1999
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyV Tiranti, M Jaksch, S Hofmann, et al.
Human Molecular Genetics|December 26, 2001
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblastsM Jaksch, C Paret, R Stucka, et al.
Neurology|October 24, 2001
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathyM Jaksch, R Horvath, N Horn, et al.
Pageof 4