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Search for publications relevant for "Mitochondrial disease"
Mitochondrial disease
Publication
Class
Person
Publication
Programmes
publication
Diagnostics of mitochondrial diseases
Publication without faculty affiliation
publication
Prenatal diagnostic in families with mitochondrial diseases
Publication without faculty affiliation
publication
Biochemical analysis of mitochondrial diseases in blood cells
Publication without faculty affiliation
publication
Mitochondrial diseases and genetic defects of ATP synthase
2006 |
First Faculty of Medicine
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Mitochondrial diseases and ATPase defects of nuclear origin
2004 |
First Faculty of Medicine
publication
Mitochondrial diseases and ATPase defects of nuclear origin
2004 |
Faculty of Physical Education and Sport
publication
Mitochondrial diseases and genetic defects of ATP synthase
2006 |
Faculty of Physical Education and Sport
publication
Mitochondrial diseases in the children
Publication without faculty affiliation
publication
Expression of Ndi1p, an alternative NADH:ubiquinone oxidoreductase, increases mitochondrial membrane potential in a C. elegans model of mitochondrial disease
2007 |
Faculty of Mathematics and Physics
publication
The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients
2003 |
First Faculty of Medicine
publication
The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients
2003 |
Faculty of Physical Education and Sport
publication
Genetic aspects of mitochondrial diseases
2001 |
First Faculty of Medicine
publication
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
2016 |
First Faculty of Medicine
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
First Faculty of Medicine
publication
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male
2012 |
First Faculty of Medicine
publication
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
2018 |
First Faculty of Medicine
publication
Revisiting mitochondrial diagnostic criteria in the new era of genomics
2018 |
First Faculty of Medicine
publication
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
2022 |
First Faculty of Medicine
publication
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry
2014 |
First Faculty of Medicine
publication
Mutation in mitochondrial DNA that causes deafness
2012 |
First Faculty of Medicine
publication
Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms
2010 |
First Faculty of Medicine
publication
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) - a case report of the rare diasease with radiological findings
2010 |
First Faculty of Medicine
publication
TMEM70 protein - A novel ancillary factor of mammalian ATP synthase
2009 |
First Faculty of Medicine
publication
Metabolic myopathies
2022 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Second Faculty of Medicine
publication
Mitochondria - from origin to current therapies
2021 |
Third Faculty of Medicine
publication
In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Mitochondrial membrane potential and ATP production in primary disorders of ATP synthase
2004 |
Publication without faculty affiliation
publication
Gene therapy for inherited retinal and optic nerve disorders : current knowledge
2016 |
Faculty of Physical Education and Sport, First Faculty of Medicine