ℹ️
🇬🇧
Search
Search for publications relevant for "complex-I deficiency"
complex-I deficiency
Publication
Class
Person
Publication
Programmes
publication
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
2012 |
First Faculty of Medicine
publication
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
2012 |
First Faculty of Medicine
publication
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
2016 |
First Faculty of Medicine
publication
IgA Nephropathy: Molecular Mechanisms of the Disease
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Glucocorticoids Reduce Aberrant O-Glycosylation of IgA1 in IgA Nephropathy Patients
2018 |
First Faculty of Medicine, Second Faculty of Medicine
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
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency
2008 |
First Faculty of Medicine
publication
Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C
2015 |
First Faculty of Medicine
publication
DiS-C3(3) monitoring of in vivo mitochondrial membrane potential in C. elegans
2007 |
Faculty of Mathematics and Physics
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
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
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis
2021 |
Faculty of Science
publication
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry
2014 |
First Faculty of Medicine