946 results on '"Pane, Marika"'
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2. Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study
3. “If you cannot measure it, you cannot improve it”. Outcome measures in Duchenne Muscular Dystrophy: current and future perspectives
4. Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
5. The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
6. Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy
7. Correction to “If you cannot measure it, you cannot improve it”. Outcome measures in Duchenne muscular dystrophy: current and future perspectives
8. Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
9. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
10. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA
11. Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module
12. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study
13. Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
14. Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.
15. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
16. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
17. Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
18. Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
19. Assessing floppy infants: a new module
20. Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1
21. Body mass index in type 2 spinal muscular atrophy: a longitudinal study
22. Long term follow-up of scoliosis progression in type II SMA patients
23. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
24. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
25. Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts’ opinion and real-world experience.
26. Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise.
27. Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
28. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
29. 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
30. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
31. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
32. The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
33. Ultrasound assisted versus landmark based intrathecal administration of nusinersen in adults with spinal muscular atrophy disease: A randomized trial.
34. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
35. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
36. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
37. Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes.
38. Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
39. Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
40. Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data
41. Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications
42. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
43. Development of a New Sign Language Translation System for People with Autism Spectrum Disorder
44. Genotype–phenotype correlations in recessive titinopathies
45. Management of anesthesia in children with autism spectrum disorders.
46. Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis
47. Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era
48. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
49. Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen
50. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
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