251 results on '"Garone, Caterina"'
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2. Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage
3. A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit
4. Enchanting Educational Settings
5. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
6. TMEM14C is required for erythroid mitochondrial heme metabolism
7. Expanding the Clinical Spectrum ofUBTF-Related Neurodevelopmental Disorder
8. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far
9. mtDNA maintenance: disease and therapy
10. List of Contributors
11. Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
12. Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
13. COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction
14. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
15. Historical Perspective on Mitochondrial Medicine
16. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
17. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
18. From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases
19. Mitochondrial encephalomyopathies
20. Requirement of enhanced survival motoneuron protein imposed during neuromuscular junction maturation
21. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
22. Fhl1 W122S causes loss of protein function and late-onset mild myopathy
23. A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit
24. A new case of idiopathic hemiplegia hemiconvulsion syndrome
25. Metabolic Myopathies
26. Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
27. Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy
28. The Transcriptome of SH-SY5Y at Single-Cell Resolution: A CITE-Seq Data Analysis Workflow
29. Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy
30. SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
31. Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
32. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
33. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
34. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
35. FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype
36. Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
37. Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis
38. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
39. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
40. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
41. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
42. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far
43. FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia
44. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
45. Towards a therapy for mitochondrial disease: an update
46. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (P1.301)
47. Retrospective natural history of thymidine kinase 2 deficiency
48. Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency
49. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
50. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
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