36 results on '"Di Nottia, Michela"'
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2. Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans
3. Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
4. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
5. Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia
6. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review
7. Inflammatory profile in mitochondrial diseases: A cohort study
8. Inflammatory profile in mitochondrial diseases: A cohort study
9. TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection
10. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
11. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
12. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
13. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
14. Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species
15. Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1
16. Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism
17. A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
18. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
19. Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches
20. A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
21. Mutations inELAC2associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing
22. Clinical-genetic features and peculiar muscle histopathology in infantileDNM1L-related mitochondrial epileptic encephalopathy
23. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins
24. Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
25. Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
26. Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
27. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
28. Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
29. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
30. Biallelic mutations in early-onset, variably progressive neurodegeneration.
31. Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2
32. Enhancement of mitochondrial ATP production by theEscherichia colicytotoxic necrotizing factor 1
33. CNF1 Improves Astrocytic Ability to Support Neuronal Growth and Differentiation In vitro
34. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing
35. TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection
36. Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
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