409 results on '"Caporali, Leonardo"'
Search Results
2. Choroidal vascularity index in hereditary optic neuropathies
3. A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I
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
8. Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
9. Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population
10. The relevance of migraine in the clinical spectrum of mitochondrial disorders
11. Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
12. Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm
13. The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes
14. A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
15. New insights into idebenone therapy in relation to NQO1
16. The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
17. A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory Complex I
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
21. Modelling MERRF in 3D cortical organoids: manipulating patient-derived iPSCs to gain insight on prospective pre-clinical therapeutic strategies
22. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
23. Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models
24. Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype
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.
30. First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
31. Reply to: “Lack of Association betweenTWNKRare Variants and Parkinson's Disease in a Chinese Cohort”
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
37. Reply to: No Association between RareTWNKVariants and Parkinson's Disease in European Cohorts
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
43. DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions
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
50. Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing
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