482 results on '"Carrozzo, Rosalba"'
Search Results
2. AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
3. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
4. GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study
5. Disorders of the Pyruvate Metabolism and the Krebs Cycle
6. Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans
7. Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
8. The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity
9. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
10. Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
11. Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
12. Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia
13. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review
14. Inflammatory profile in mitochondrial diseases: A cohort study
15. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
16. Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants
17. Inflammatory profile in mitochondrial diseases: A cohort study
18. Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB
19. Disorders of the Krebs Cycle
20. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS
21. TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection
22. Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
23. Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells
24. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
25. AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
26. A20 Reduced levels of the glucose transporter glut-1 in brain striatum and periphery reveals clues to specific pathomechanisms in childhood-onset Huntington disease
27. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
28. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
29. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
30. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
31. Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases
32. Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria
33. SHP2 's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction
34. A novel homozygous variant inCOX5Acauses an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia and short stature
35. Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
36. Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study
37. Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal
38. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
39. Liver fatty acid-binding protein in two cases of human lipid storage
40. Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species
41. F54 ‘Spazio huntington – a place for children’: an Italian observational, multicentre, program to detect pediatric huntington disease cases
42. ‘Behr syndrome’ with OPA1 compound heterozygote mutations
43. Clinical and audiological follow up of a family with the 8363G > A mutation in the mitochondrial DNA
44. Mitochondrial DNA depletion syndromes: an update
45. The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.
46. Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
47. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
48. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
49. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
50. Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
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