482 results on '"Sorarù, Gianni"'
Search Results
2. Changes in Cerebrospinal Fluid Concentrations of Selenium Species Induced by Tofersen Administration in Subjects with Amyotrophic Lateral Sclerosis Carrying SOD1 Gene Mutations
3. Blood biomarkers for Alzheimer’s disease with the Lumipulse automated platform: Age-effect and clinical value interpretation
4. Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy’s disease
5. Randomized, double-blind, placebo-controlled trial of rapamycin in amyotrophic lateral sclerosis
6. The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
7. Correction: Immune-mediated myogenesis and acetylcholine receptor clustering promote a slow disease progression in ALS mouse models
8. LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
9. Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
10. Immune-mediated myogenesis and acetylcholine receptor clustering promote a slow disease progression in ALS mouse models
11. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
12. Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance
13. ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment
14. Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen
15. Case 37: Atypical Upper Motor Neuron Disease
16. The relevance of migraine in the clinical spectrum of mitochondrial disorders
17. Six‐minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.
18. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
19. Financial and numerical abilities: patterns of dissociation in neurological and psychiatric diseases
20. Correction to: Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance
21. Case 37: Atypical Upper Motor Neuron Disease
22. CSF-venous leak responsible for spontaneous intracranial hypotension treated by endovascular venous route: First cases in Italy.
23. Contingent intramuscular boosting of P2XR7 axis improves motor function in transgenic ALS mice
24. Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis
25. MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease
26. Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients
27. Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy
28. Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial
29. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial
30. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
31. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
32. Sympathetic neuropathology is revealed in muscles affected by amyotrophic lateral sclerosis
33. Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers
34. Troponin T in spinal and bulbar muscular atrophy (SBMA)
35. 210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27–29 March, 2015, Naarden, The Netherlands
36. Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance
37. Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort
38. Factors predicting survival in ALS: a multicenter Italian study
39. Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure
40. Dataset of empathic responses in X-SMBA
41. Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
42. The clinical spectrum of CASQ1-related myopathy
43. Rapamycin treatment for amyotrophic lateral sclerosis: Protocol for a phase II randomized, double-blind, placebo-controlled, multicenter, clinical trial (RAP-ALS trial)
44. Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet
45. Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy
46. Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
47. 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
48. Clinical trials in pediatric ALS: a TRICALS feasibility study
49. TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation
50. SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells
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