Martin Magner
Charles University(CZ)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Glycogen Storage Diseases and Myoclonus, Trypanosoma species research and implications
Most-Cited Works
- → TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy(2008)197 cited
- → Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned?(2010)157 cited
- → Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis(2012)82 cited
- → Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation(2010)79 cited
- → TMEM70 deficiency: long‐term outcome of 48 patients(2014)69 cited
- → Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development(2010)68 cited
- → Vascular presentation of cystathionine beta‐synthase deficiency in adulthood(2010)59 cited
- → Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures(2010)39 cited
- → SURF1 missense mutations promote a mild Leigh phenotype(2009)39 cited
- → Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency(2012)36 cited