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
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss.
van Kempen CMA et al.
Molecular Genetics and Metabolism, 2022
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
The unfolding clinical spectrum of POLG mutations.
Blok MJ et al.
Journal of Medical Genetics, 2009
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