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M Jaksch

Showing results (21-30 of 38) with videos related to

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Biochemical and Biophysical Research Communications|October 12, 2000
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiencyR Horvath, H Lochmüller, R Stucka, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 20, 2005
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)R Horváth, A Abicht, E Holinski-Feder, et al.
European Journal of Biochemistry|June 26, 2001
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscleC Thirion, R Stucka, B Mendel, et al.
Genomics|January 1, 1997
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypesS Hofmann, R Bezold, M Jaksch, et al.
Diabetologia|January 22, 2013
Growth arrest specific protein (GAS) 6: a role in the regulation of proliferation and functional capacity of the perinatal rat beta cellT N Haase, M Rasmussen, C A M Jaksch, et al.
Nucleic Acids Research|December 10, 1998
MITOP: database for mitochondria-related proteins, genes and diseasesC Scharfe, P Zaccaria, K Hoertnagel, et al.
Clinical Neuropathology|October 9, 2002
Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literatureJ Wanschit, S Nakano, B Goudeau, et al.
Journal of Medical Genetics|December 1, 1998
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathyM Jaksch, S Hofmann, S Kleinle, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunctionT P Hutchin, N C Navarro-Coy, G Van Camp, et al.
Journal of Medical Genetics|October 5, 2001
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficienciesM Jaksch, S Kleinle, C Scharfe, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Biochemical and Biophysical Research Communications|October 12, 2000
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiencyR Horvath, H Lochmüller, R Stucka, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 20, 2005
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)R Horváth, A Abicht, E Holinski-Feder, et al.
European Journal of Biochemistry|June 26, 2001
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscleC Thirion, R Stucka, B Mendel, et al.
Genomics|January 1, 1997
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypesS Hofmann, R Bezold, M Jaksch, et al.
Diabetologia|January 22, 2013
Growth arrest specific protein (GAS) 6: a role in the regulation of proliferation and functional capacity of the perinatal rat beta cellT N Haase, M Rasmussen, C A M Jaksch, et al.
Nucleic Acids Research|December 10, 1998
MITOP: database for mitochondria-related proteins, genes and diseasesC Scharfe, P Zaccaria, K Hoertnagel, et al.
Clinical Neuropathology|October 9, 2002
Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literatureJ Wanschit, S Nakano, B Goudeau, et al.
Journal of Medical Genetics|December 1, 1998
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathyM Jaksch, S Hofmann, S Kleinle, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunctionT P Hutchin, N C Navarro-Coy, G Van Camp, et al.
Journal of Medical Genetics|October 5, 2001
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficienciesM Jaksch, S Kleinle, C Scharfe, et al.
Pageof 4