399 results on '"Legati, A."'
Search Results
2. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases
3. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
4. AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
5. Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A
6. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
7. Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
8. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
9. Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing
10. Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
11. Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A
12. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
13. Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.
14. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
15. NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
16. Trilogia della frontiera: Cavalli selvaggi. Oltre il confine. Città della pianura
17. SÍNDROME DO INTESTINO IRRITÁVEL
18. Brain calcifications and PCDH12 variants.
19. Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy
20. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.
21. A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
22. O Legado do COVID-19: Uma análise das principais complicações e sequelas
23. A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques
24. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
25. Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders
26. EQUALIZAÇÃO PARCIAL DO CÔNJUGE AO COMPANHEIRO NA SUCESSÃO
27. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?
28. NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
29. Laura DI FABIO, Due democrazie, una sorveglianza comune. Italia e Repubblica Federale Tedesca nella lotta al terrorismo interno e internazionale (1967-1986), Firenze, Le Monnier – Mondadori Education, 2018, 223 pp.
30. Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
31. Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome
32. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
33. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
34. NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
35. RECENSIONE: Oscar GRECO, I demoni del mezzogiorno. Follia, pregiudizio e marginalità nel manicomio di Girifalco (1881-1921), Soveria Mannelli, Rubbettino, 2018, 256 pp.
36. RECENSIONE: Giovanni PIETRANGELI, La più grossa fabbrica di Roma. Dirigenti, tecnici e operaie alla Voxson, Venezia, Edizioni Ca’ Foscari, 2017, 160 pp.
37. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
38. Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
39. AB1820-HPR BIOELECTRICAL IMPEDANCE ANALYSIS SHOWED HIGH AGREEMENT AND SPECIFICITY TO ASSESSMENT OF LOW APPENDICULAR SKELETAL MUSCLE MASS IN WOMEN WITH SYSTEMIC SCLEROSIS: PRELIMINARY DATA
40. AB0860 DISEASE ACTIVITY IS ASSOCIATED WITH LOW QUADRICEPS MUSCLE THICKNESS IN WOMEN WITH SYSTEMIC SCLEROSIS: PRELIMINARY DATA
41. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
42. Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study
43. GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.
44. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
45. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations
46. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
47. Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
48. Variants in ATP5F1B are associated with dominantly inherited dystonia
49. ESTABLISHED SYSTEMIC SCLEROSIS PATIENTS HAVE LOW PREVALENCE OF MALNUTRITION: A CROSS-SECTIONAL STUDY
50. THE PREVALENCE OF LOW MUSCLE STRENGTH IN PATIENTS WITH SYSTEMIC SCLEROSIS: A CROSS-SECTIONAL STUDY
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