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773 results on '"Bruno, Claudio"'

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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

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

9. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study

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

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

18. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

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

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

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.

40. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

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

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

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