TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr, +18

Nature Genetics

Mitochondrial MyopathyNeonatal Mitochondrial EncephalocardiomyopathyMitochondrial BiogenesisMitochondrial FunctionGenetics +6

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned?

Tomáš Honzík, Miriam Adamovičová, Vratislav Smolka, +3

European Journal of Paediatric Neurology

NutritionClinical PresentationBreastfed InfantsPublic HealthMicronutrient Supplementation +14

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

Tomáš Honzík, Markéta Tesařová, Martin Magner, +8

Journal of Inherited Metabolic Disease

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, +13

Archives of Disease in Childhood

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

Martina Pejznochová, Markéta Tesařová, Hana Hansíková, +6

Mitochondrion

BiologyChromatinHuman Fetal DevelopmentDnaDevelopmental Biology +13

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová, +24

Journal of Inherited Metabolic Disease

Vascular presentation of cystathionine beta‐synthase deficiency in adulthood

Martin Magner, Lucie Krupková, Tomáš Honzík, +3

Journal of Inherited Metabolic Disease

<i>SURF1</i> missense mutations promote a mild Leigh phenotype

Dorota Piekutowska‐Abramczuk, Martin Magner, Ewa Popowska, +11

Clinical Genetics

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures

Martin Magner, K Szentiványi, Ivana Švandová, +4

European Journal of Paediatric Neurology

Mitochondrial FunctionNeurophysiologyReliable MarkerCerebrospinal FluidMitochondrial Disorders +7

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Tomáš Honzík, Martin Magner, Jakub Krijt, +12

Molecular Genetics and Metabolism

BiochemistryNatural SciencesInherited Metabolic DiseaseMolecular BiologyPathology +3