265 results on '"Caporali, Leonardo"'
Search Results
2. Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts
3. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
4. Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
5. Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer’s disease and longevity in an Italian population
6. The relevance of migraine in the clinical spectrum of mitochondrial disorders
7. Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
8. A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
9. New insights into idebenone therapy in relation to NQO1
10. The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
11. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
12. 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
13. Modelling MERRF in 3D cortical organoids: manipulating patient-derived iPSCs to gain insight on prospective pre-clinical therapeutic strategies
14. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
15. Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models
16. Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype
17. Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
18. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
19. Recessive MECR pathogenic variants cause an LHONlike optic neuropathy.
20. First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
21. The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
22. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
23. Recessive MECRpathogenic variants cause an LHON-like optic neuropathy
24. Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder
25. Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
26. Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant
27. DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions
28. Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy
29. Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
30. Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions
31. The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)
32. Additional file 1 of Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
33. Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population
34. Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors
35. Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction
36. Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion
37. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
38. The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs
39. OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation
40. ‘Behr syndrome’ with OPA1 compound heterozygote mutations
41. Terminal-restriction fragment length polymorphism analysis of biphenyl dioxygenase genes from a polychlorinated biphenyl-polluted soil
42. Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
43. Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
44. Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica).
45. Epilepsy in MT ‐ ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
46. An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
47. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
48. Idebenone treatment in patients with OPA1-mutant dominant optic atrophy
49. Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors.
50. TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
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