Associated Papers
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
Lopriore P et al.
Movement Disorders Clinical Practice, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
38756539 (PubMed )
Supplement: fcae160_supplementary_data.zip › Supplementary_Tables.pdf
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Montano V et al.
Case Reports in Neurological Medicine, 2019
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy.
Komal FNU et al.
Neurology. Genetics, 2018
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Caporali L et al.
Brain : a Journal of Neurology, 2018
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D et al.
Brain : a Journal of Neurology, 2012
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