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Publications by R. Forstner
Leigh Disease With Brainstem Involvement in Complex I Deficiency Due to Assembly Factor NDUFAF2 Defect
Neuropediatrics
Medicine
Child Health
Neurology
Pediatrics
Perinatology
Related publications
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy
American Journal of Human Genetics
Genetics
Expression of Yeast NDI1 Rescues a Drosophila Complex I Assembly Defect
PLoS ONE
Multidisciplinary
Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria From Patients With Complex I Deficiency
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
C6ORF66 Is an Assembly Factor of Mitochondrial Complex I
American Journal of Human Genetics
Genetics
Glycogen Storage Disease Due to LAMP-2 Deficiency
Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency
Homonymous Superior Quadrantanopia Due to Erdheim-Chester Disease With Asymptomatic Pituitary Involvement
Case Reports in Neurological Medicine
Intracerebral Haemorrhage in an Adult Due to Transient Factor X Deficiency
Journal of the Royal Society of Medicine
Medicine
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