Associated Papers
Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.
Koessler M et al.
Jimd Reports, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
33113942 (PubMed )
Supplement: brainsci-10-00768-s001.pdf
Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity.
Finsterer J
Movement Disorders Clinical Practice, 2020
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A et al.
Molecular Genetics and Metabolism, 2012
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W et al.
Nucleic Acids Research, 2011
20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppFigures.pdf
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