118 results on '"Tadesse, Saba"'
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2. CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway
3. Abnormalities of lipid metabolism in neuronal models of CoQ10 deficiency (S49.004)
4. Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
5. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway
6. Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency
7. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway
8. Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients
9. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
10. Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma
11. Heterogeneity of Coenzyme Q10 Deficiency: Patient Study and Literature Review
12. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
13. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation
14. Thymidine Phosphorylase Intracellular Enzyme Replacement Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) (3975)
15. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
16. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
17. Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
18. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
19. A splice-site mutation in USMG5 causes Leigh Syndrome due to lack of ATP synthesis (P2.085)
20. Intra-familial variability associated with recessive mutations in MTO1 gene. (P1.299)
21. Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
22. Oral deoxynucleoside for the treatment of thymidine kinase 2 deficiency (P3.195)
23. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway (P5.136)
24. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway
25. Bioenergetic markers in skin fibroblasts of sporadic ALS and PLS patients
26. Green to Orange Color-Tuneable Emission of Tb2Mo3O12:Sm3+
27. Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum
28. Lack of Aprataxin Impairs Mitochondrial Functions via Downregulation of the APE1/NRF1/NRF2 Pathway (S30.004)
29. Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum (P4.304)
30. Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2 Deficiency (IN1-2.003)
31. Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2 Deficiency (S05.005)
32. Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation (P03.010)
33. Tissue‐specific oxidative stress and loss of mitochondria in CoQ‐deficient Pdss2 mutant mice
34. Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
35. Effects of Inhibiting CoQ10 Biosynthesis with 4-nitrobenzoate in Human Fibroblasts
36. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
37. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
38. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity
39. Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays
40. A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome
41. Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses
42. Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase
43. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
44. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
45. Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
46. Heterogeneity of Coenzyme Q10 Deficiency.
47. Effects of Inhibiting CoQ10 Biosynthesis with 4-nitrobenzoate in Human Fibroblasts.
48. A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome
49. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
50. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
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