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TMEM70
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
2008 |
First Faculty of Medicine
publication
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
First Faculty of Medicine
publication
Expression and processing of the TMEM70 protein
2011 |
First Faculty of Medicine
publication
Mitochondrial membrane assembly of TMEM70 protein
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
TMEM70 protein - A novel ancillary factor of mammalian ATP synthase
2009 |
First Faculty of Medicine
publication
Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency
2017 |
First Faculty of Medicine
publication
Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat
2022 |
First Faculty of Medicine, Faculty of Science
publication
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation
2012 |
First Faculty of Medicine
publication
TMEM70 deficiency: long-term outcome of 48 patients
2015 |
First Faculty of Medicine
publication
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
2008 |
Publication without faculty affiliation
publication
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C
2015 |
First Faculty of Medicine
publication
Analysis of mitochondrial network morphology in cultured myoblasts from patients with mitochondrial disorders
2015 |
First Faculty of Medicine, Second 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
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry
2014 |
First Faculty of Medicine