Associated Papers
Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.
Christodoulou MV et al.
Radiology Case Reports, 2025
39758336 (PubMed )
Supplement: mmc1.pdf
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology.
Wang Y et al.
Frontiers in Pediatrics, 2024
38737634 (PubMed )
Supplement: Datasheet1.pdf
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.
Lee IC et al.
Journal of Child Neurology, 2013
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
Shaibani A et al.
Archives of Neurology, 2009
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0
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