206 results on '"Bartoletti-Stella, Anna"'
Search Results
2. Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease
3. A geroscience approach for Parkinson’s disease: Conceptual framework and design of PROPAG-AGEING project
4. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
5. Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes
6. Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease
7. Genetic defects of gamma‐secretase genes in a multiple myeloma patient with high and dysregulated BCMA surface density: A case report
8. Paradigm Shift in Gastric Cancer Prevention: Harnessing the Potential of Aristolochia olivieri Extract
9. Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
10. Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases
11. CSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia
12. The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
13. Genetic defects of gamma‐secretase genes in a multiple myeloma patient with high and dysregulated BCMA surface density: A case report.
14. Phospholipase Family Enzymes in Lung Cancer: Looking for Novel Therapeutic Approaches
15. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature
16. Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
17. Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing
18. Messenger RNA processing is altered in autosomal dominant leukodystrophy
19. A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia
20. Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
21. Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease
22. Extra Virgin Olive Oil (EVOO), a Mediterranean Diet Component, in the Management of Muscle Mass and Function Preservation
23. Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study
24. Combined Treatment with PI3K Inhibitors BYL-719 and CAL-101 Is a Promising Antiproliferative Strategy in Human Rhabdomyosarcoma Cells
25. Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson's disease patients
26. DCTN1 variants' role in neurodegenerative diseases: A regional two-centers experience.
27. The clinical spectrum of multisystem proteinopathy: Data from a neurodegenerative cohort
28. Messenger RNA processing is altered in autosomal dominant leukodystrophy†
29. Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients
30. Three-Dimensional Virtual Anatomy as a New Approach for Medical Student’s Learning
31. Identification of Recurrent Genetic Patterns From Targeted Sequencing Panels With Advanced Data Science: A Case-Study On Sporadic And Genetic Neurodegenerative Diseases
32. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype
33. How Inflammation Pathways Contribute to Cell Death in Neuro-Muscular Disorders
34. A geroscience approach for Parkinson’s disease: Conceptual framework and design of PROPAG-AGEING project
35. Mitochondrial DNA Mutations in Oncocytic Adnexal Lacrimal Glands of the Conjunctiva
36. Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes
37. Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease
38. First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms
39. Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in STX6 and GAL3ST1
40. The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization
41. MOESM1 of CSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia
42. Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
43. Additional file 1: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
44. Additional file 4: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
45. Additional file 5: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
46. Additional file 3: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
47. Additional file 6: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
48. Additional file 8: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
49. Additional file 2: of The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins
50. Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases
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