Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Eliška Koňařiková
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy
American Journal of Human Genetics
Genetics
Related publications
The Mitochondrial DNA G13513A MELAS Mutation in the NADH Dehydrogenase 5 Gene Is a Frequent Cause of Leigh-Like Syndrome With Isolated Complex I Deficiency
Journal of Medical Genetics
Genetics
Muscle Coenzyme Q Deficiency in Familial Mitochondrial Encephalomyopathy.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Leigh Disease With Brainstem Involvement in Complex I Deficiency Due to Assembly Factor NDUFAF2 Defect
Neuropediatrics
Medicine
Child Health
Neurology
Pediatrics
Perinatology
Nitration of the Mitochondrial Complex I Subunit NDUFB8 Elicits RIP1- And RIP3-mediated Necrosis
Free Radical Biology and Medicine
Biochemistry
Physiology
Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing
Journal of Medical Genetics
Genetics
Cell-Permeable Succinate Prodrugs Bypass Mitochondrial Complex I Deficiency
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Four Novel Thymidine Phosphorylase Gene Mutations in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE) Patients
European Journal of Human Genetics
Genetics
Modeling Mitochondrial Encephalomyopathy in Drosophila
Neurobiology of Disease
Neurology
Psychiatric Disturbance in Mitochondrial Encephalomyopathy.
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
