43 results on '"Zanoteli, E."'
Search Results
2. P212 RAINBOWFISH: Primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)
3. HSD5 Patient and Caregiver Spinal Muscular Atrophy (SMA) Treatment Attribute Preferences in Latin America
4. P.109 FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA)
5. FP.24 RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)
6. P.03 Myosin dysregulation in nemaline myopathy
7. SMA - TREATMENT: EP.278 FIREFISH Parts 1 and 2: 24-month safety and efficacy of risdiplam in type 1 spinal muscular atrophy (SMA)
8. SMA CLINICAL DATA: EP.249 ANCHOVY: A retrospective cohort study of the natural history of type 1 spinal muscular atrophy (SMA) using medical record data
9. LGMD: EP.177 Clinical and genetic spectrum of a large cohort of delta-sarcoglycan muscular dystrophy.
10. CLINICAL TRIAL HIGHLIGHTS: O.4 RAINBOWFISH: A study of risdiplam in infants with presymptomatic spinal muscular atrophy (SMA)
11. SMA – THERAPY: P.274 RAINBOWFISH: A study of risdiplam (RG7916) in infants with presymptomatic spinal muscular atrophy (SMA)
12. SMA – THERAPY: P.271 FIREFISH Parts 1 and 2: 12-month pooled safety and efficacy outcomes of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA)
13. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.235Recessive congenital fiber type disproportion caused by TPM3 mutation
14. INFLAMMATORY MYOPATHIES: P.163Myositis and fasciitis due to disseminated histoplasmosis
15. SMA THERAPIES I: P.174Lumbar catheter placement for nusinersen administration in a SMA 2 patient with spinal deformities and previous spinal surgery
16. INFLAMMATORY MYOPATHIES: P.156Brachio-cervical inflammatory myopathy with lymphoid follicle-like structures in a patient with scleroderma
17. CONGENITAL MYOPATHIES (CNM): P.141High frequency of manifesting carriers in the recessive X-linked myotubular myopathy
18. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.85Cognitive performance of children with 5q-spinal muscular atrophy: a systematic review
19. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.68The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndrome
20. CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.48Hypercontractile congenital muscle stiffness
21. P.416 - A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndrome
22. P.135 - First results from the international LMNA-related congenital and childhood onset muscular dystrophy retrospective natural history study
23. NMJ+C02 - Hypokalaemic periodic paralysis due to a novel ATP1A2 mutation: a new periodic paralysis gene?
24. P.398 - Nemaline myopathy related to HIV infection with a good response to immunosuppression
25. P.284 - Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI
26. P.86 - Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy
27. G.P.238 - RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges
28. G.P.33 : Molecular analysis of a Brazilian cohort of myotubular and centronuclear myopathy patients
29. C.P.11 Centronuclear and myotubular myopathies: Clinical, histological and molecular findings in a large series of Brazilian patients
30. P5.65 The effects of Omega-3 fatty acid on skeletal muscle atrophy induced by Dexamethasone
31. P5.66 The role of Neuraminidase 1 on skeletal muscle regeneration
32. P4.57 Effects of air stacking on peak cough flows and forced vital capacity in patients with muscular dystrophy and spinal muscular atrophy
33. P4.4 Lung function monitoring in patients with Duchenne muscular dystrophy on steroid therapy
34. P4.3 Use of the motor function measure scale to analyze effects of steroid therapy on patients with Duchenne Muscular Dystropy
35. P3.16 Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid
36. P2.25 Clinical and histological aspects in 17 Brazilian children with sarcoglycanopathy
37. P2.8 Congenital muscular dystrophy with intracytoplasmatic aggregates on muscle biopsy caused by mutation on LMNA gene
38. P1.36 Evaluation of the quality of life in patients with Duchenne Muscular Dystrophy
39. G.P.19.10 Ozz-E3 ligase expression during muscle regeneration
40. G.P.19.09 The role of neuraminidase 1 in muscle atrophy
41. C.P.4.10 Mutation spectrum of the large GTPase dynamin 2 in autosomal centronuclear myopathy
42. C.P.4.08 Screening for mutations in the dynamin 2 gene in Brazilian patients with centronuclear myopathy and Charcot-Marie-Tooth neuropathy
43. G.P.5 05 Skeletal muscle involvement in neuraminidase deficient mice
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