13 results on '"Barca, Emanuele"'
Search Results
2. A splice-site mutation in USMG5 causes Leigh Syndrome due to lack of ATP synthesis (P2.085)
3. Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC) (P1.141)
4. Oral deoxynucleoside for the treatment of thymidine kinase 2 deficiency (P3.195)
5. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway (P5.136)
6. Lack of Aprataxin Impairs Mitochondrial Functions via Downregulation of the APE1/NRF1/NRF2 Pathway (S30.004)
7. Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum (P4.304)
8. Clinical and molecular genetics spectrum of Thymidine Kinase 2 deficiency (P5.067)
9. Early-onset cerebellar ataxia due to novel mutations in ACO2 (P2.224)
10. ANO10 mutations cause ataxia and coenzyme Q10 deficiency (P2.109)
11. Cerebellar Ataxia with CoQ10 Deficiency Due to a Novel Mutation in ADCK3 (P6.057)
12. Defective Muscle Mitochondrial Biogenesis in Spinal Muscular Atrophy. (P7.004)
13. Quantitative Muscle MRI and Functional Measures in a Cohort of Late Onset GSDII Patients (P07.027)
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.