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Mitochondrial diseases
Person
Class
Person
Publication
Programmes
RNDr. Hana Hansíková CSc.
Academic staff at First Faculty of Medicine
2 classes
390 publications
Classes
class
Practical course of DNA diagnostic
B01680 |
First Faculty of Medicine
class
Practical Course of DNA diagnostics
B81680 |
First Faculty of Medicine
Publications
publication
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male
2012 |
First Faculty of Medicine
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
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 |
First Faculty of Medicine, Faculty of Science, Faculty of Physical Education and Sport, 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 |
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 encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
First Faculty of Medicine
publication
Cytochrome C oxidase deficiency in childhood
2009 |
First Faculty of Medicine
publication
Friedreich's Ataxia: Treatment on the Horizon!
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
First Faculty of Medicine, Faculty of Science
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