773 results on '"Bruno, Claudio"'
Search Results
2. Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
3. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
4. Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
5. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
6. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA
7. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
8. Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
9. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study
10. Spinal muscular atrophy: state of the art and new therapeutic strategies
11. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
12. Genetic modifiers of upper limb function in Duchenne muscular dystrophy
13. Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies
14. Body mass index in type 2 spinal muscular atrophy: a longitudinal study
15. Long term follow-up of scoliosis progression in type II SMA patients
16. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
17. Long term follow-up in two siblings with Sengers syndrome: Case report
18. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
19. Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
20. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
21. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
22. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
23. Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
24. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
25. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
26. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
27. The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
28. Correction to: Kearns‑Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
29. Early treatment of type II SMA slows rate of progression of scoliosis.
30. Genotype–phenotype correlations in recessive titinopathies
31. Growth patterns in children with spinal muscular atrophy
32. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
33. Management and outcome of benign acute childhood myositis in pediatric emergency department
34. Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
35. The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan–Deficient Muscular Dystrophy
36. Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1.
37. Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
38. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
39. The Crystal Structure of N-[(2E)-3-(4-Chlorophenyl)prop-2-en-1-yl]-4-methoxy-N-methylbenzenesulfonamide
40. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
41. Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder
42. Neural mechanisms underlying valence inferences to sound: The role of the right angular gyrus
43. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
44. Synthesis, antiarrhythmic activity, and toxicological evaluation of mexiletine analogues
45. The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
46. Clinical and molecular consequences of exon 78 deletion in DMD gene
47. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations
48. The chemosensitizing agent lubeluzole binds calmodulin and inhibits Ca2+/calmodulin-dependent kinase II
49. “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
50. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.