Associated Papers
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.
Manini A et al.
Journal of Neurology, 2025
The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.
Mantey I et al.
Genes, 2025
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller N et al.
Human Mutation, 2021
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut S et al.
Jama Neurology, 2018
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.
Baruffini E et al.
Mitochondrion, 2015
25462018 (PubMed )
Supplement: mmc2.doc
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.
Gasparre G et al.
Human Molecular Genetics, 2008
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