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Jesina

Showing results (21-30 of 37) with videos related to

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Molecular Genetics and Metabolism|December 5, 2012
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 geneTomas Honzik, Marketa Tesarova, Kamila Vinsova, et al.
The Biochemical Journal|July 22, 2004
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206Pavel Jesina, Markéta Tesarová, Daniela Fornůsková, et al.
Toxicology Mechanisms and Methods|December 22, 2009
Mitochondrial membrane potential and ATP production in primary disorders of ATP synthaseAlena Vojtísková, Pavel Jesina, Martin Kalous, et al.
Biochemical and Biophysical Research Communications|December 31, 2003
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 geneA Dubot, C Godinot, V Dumur, et al.
Human Molecular Genetics|June 23, 2010
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunitJohannes A Mayr, Vendula Havlícková, Franz Zimmermann, et al.
Journal of Inherited Metabolic Disease|January 11, 2012
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosisTomas Honzik, Marketa Tesarova, Martin Magner, et al.
Journal of Neuropathology and Experimental Neurology|August 23, 2020
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion DiseaseIvana Jedlickova, Anna Pristoupilova, Helena Hulkova, et al.
BMC Pediatrics|July 25, 2016
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)Mercedes Pineda, Eugen Mengel, Helena Jahnová, et al.
Neuromuscular Disorders : NMD|October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic originW Sperl, P Jesina, J Zeman, et al.
Social Science & Medicine (1982)|February 19, 2017
Experiences of stigma and discrimination faced by family caregivers of people with schizophrenia in IndiaMirja Koschorke, R Padmavati, Shuba Kumar, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|December 5, 2012
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 geneTomas Honzik, Marketa Tesarova, Kamila Vinsova, et al.
The Biochemical Journal|July 22, 2004
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206Pavel Jesina, Markéta Tesarová, Daniela Fornůsková, et al.
Toxicology Mechanisms and Methods|December 22, 2009
Mitochondrial membrane potential and ATP production in primary disorders of ATP synthaseAlena Vojtísková, Pavel Jesina, Martin Kalous, et al.
Biochemical and Biophysical Research Communications|December 31, 2003
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 geneA Dubot, C Godinot, V Dumur, et al.
Human Molecular Genetics|June 23, 2010
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunitJohannes A Mayr, Vendula Havlícková, Franz Zimmermann, et al.
Journal of Inherited Metabolic Disease|January 11, 2012
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosisTomas Honzik, Marketa Tesarova, Martin Magner, et al.
Journal of Neuropathology and Experimental Neurology|August 23, 2020
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion DiseaseIvana Jedlickova, Anna Pristoupilova, Helena Hulkova, et al.
BMC Pediatrics|July 25, 2016
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)Mercedes Pineda, Eugen Mengel, Helena Jahnová, et al.
Neuromuscular Disorders : NMD|October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic originW Sperl, P Jesina, J Zeman, et al.
Social Science & Medicine (1982)|February 19, 2017
Experiences of stigma and discrimination faced by family caregivers of people with schizophrenia in IndiaMirja Koschorke, R Padmavati, Shuba Kumar, et al.
Pageof 4