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21 results on '"Procaccio, Vincent"'

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1. OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

2. High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ−) mutant

3. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

4. Genomic and non-genomic regulation of PGC1 isoforms by estrogen to increase cerebral vascular mitochondrial biogenesis and reactive oxygen species protection

5. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

6. BDNF Val66Met Polymorphism Influences Motor System Function in the Human Brain

7. Increased prevalence of val66met BDNF genotype among subjects with cervical dystonia

8. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

9. BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex

10. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

11. Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

12. Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

13. Is ABCC6 a genuine mitochondrial protein?

14. Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.

15. Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression.

16. Reply: The expanding neurological phenotype of DNM1L-related disorders.

17. Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity

18. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

19. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

20. Increased prevalence of val66met BDNF genotype among subjects with cervical dystonia

21. mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination.

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