Search

Your search keyword '"Caporali, Leonardo"' showing total 409 results

Search Constraints

Start Over You searched for: Author "Caporali, Leonardo" Remove constraint Author: "Caporali, Leonardo" Publication Year Range Last 50 years Remove constraint Publication Year Range: Last 50 years
409 results on '"Caporali, Leonardo"'

Search Results

1. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction

4. AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients

5. Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts

6. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

7. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

9. Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population

15. New insights into idebenone therapy in relation to NQO1

18. Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

19. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

20. Genetic variants of NQO1 affect the expression and activity of the protein, which determines the efficacy of idebenone treatment in Leber's hereditary optic neuropathy

22. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

25. The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?

26. Childhood-Onset Leber Hereditary Optic Neuropathy—Clinical and Prognostic Insights

27. Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

28. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

29. Recessive MECR pathogenic variants cause an LHONlike optic neuropathy.

32. The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

33. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

34. Recessive MECRpathogenic variants cause an LHON-like optic neuropathy

35. COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction

36. Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

38. Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?

39. The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies

40. Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy

41. Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion

42. Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant

44. TWNKin Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

45. Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy

46. Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

47. Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

48. The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

49. Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number

Catalog

Books, media, physical & digital resources