Associated Papers
Retrospective observational study of the magnetic resonance imaging features of MPV17-related mitochondrial DNA depletion syndrome.
O'Hagan S et al.
Pediatric Radiology, 2025
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Mahungu AC et al.
Frontiers in Neurology, 2023
Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease.
Müller-Nedebock AC et al.
Parkinsonism & Related Disorders, 2022
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
Meldau S et al.
Journal of Clinical Pathology, 2022
A case for genomic medicine in South African paediatric patients with neuromuscular disease.
Raga SV et al.
Frontiers in Pediatrics, 2022
Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.
Meldau S et al.
Clinical Genetics, 2018
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