254 results on '"Basso, Manuela"'
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2. Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
3. Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
4. Protein biomarkers for the diagnosis and prognosis of Amyotrophic Lateral Sclerosis
5. Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle
6. Striatal Mutant Huntingtin Protein Levels Decline with Age in Homozygous Huntington’s Disease Knock-In Mouse Models
7. ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease
8. Small molecule inhibitors of hnRNPA2B1-RNA interactions reveal a predictable sorting of RNA subsets into extracellular vesicles
9. Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis
10. Hydroxamic Acid-Based Histone Deacetylase (HDAC) Inhibitors Can Mediate Neuroprotection Independent of HDAC Inhibition
11. Mithramycin Is a Gene-Selective Sp1 Inhibitor That Identifies a Biological Intersection between Cancer and Neurodegeneration
12. Proteomic analysis applied to the study of molecular mechanisms at the basis of amyotrophic lateral sclerosis
13. Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease
14. Hydroxy-substituted trans-cinnamoyl derivatives as multifunctional tools in the context of Alzheimer's disease
15. Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA
16. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
17. International Society for Extracellular Vesicles workshop. QuantitatEVs: Multiscale analyses, from bulk to single extracellular vesicle.
18. Transglutaminases, neuronal cell death and neural repair: implications for traumatic brain injury and therapeutics
19. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
20. Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function
21. In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy
22. Skeletal Muscle Pathogenesis in Polyglutamine Diseases
23. Nitration of Hsp90 induces cell death
24. Mutations in TGM6 induce the unfolded protein response in SCA35
25. 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
26. Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
27. Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia
28. Supplementary File: Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology
29. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
30. Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons
31. A11 Huntingtin-mediated axonal transport requires arginine methylation by PRMT6
32. Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration
33. Looking Above but Not Beyond the Genome for Therapeutics in Neurology and Psychiatry: Epigenetic Proteins and RNAs Find a New Focus
34. Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology
35. Additional file 1 of Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis
36. Huntingtin-mediated axonal transport requires arginine methylation by PRMT6
37. Huntingtin-mediated axonal transport requires arginine methylation by PRMT6
38. Additional file 2 of A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
39. Additional file 3 of A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
40. Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism
41. Targeting Transcriptional Dysregulation in Huntington’s Disease: Description of Therapeutic Approaches
42. Hypoxia-inducible factor prolyl hydroxylases as targets for neuroprotection by “antioxidant” metal chelators: From ferroptosis to stroke
43. Transglutaminase is a Therapeutic Target for Oxidative Stress, Excitotoxicity and Stroke: A new Epigenetic Kid on the Cns Block
44. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
45. ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease
46. Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis
47. Increased transcription of transglutaminase 1 mediates neuronal death in in vitro models of neuronal stress and Aβ1–42-mediated toxicity
48. Focus on the heterogeneity of amyotrophic lateral sclerosis
49. Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia
50. Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism
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