Associated Papers
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
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
Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.
Ait El Cadi C et al.
Biomed Research International, 2020
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.
Rocha MC et al.
Scientific Reports, 2015
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
Hanisch F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD et al.
Brain : a Journal of Neurology, 2012
Adult-onset Mendelian PEO Associated with Mitochondrial Disease.
Sommerville EW et al.
Journal of Neuromuscular Diseases, 0
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