201 results on '"Cances, C"'
Search Results
2. Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations
3. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1)
4. Clinical features of spinal muscular atrophy (SMA) type 2
5. Etiology of neonatal seizures and maintenance therapy use: a 10-year retrospective study at Toulouse Children’s hospital
6. A Convergent Finite Volume Scheme for Two-Phase Flows in Porous Media with Discontinuous Capillary Pressure Field
7. Amyotrophie spinale type 1 : enquête multicentrique des pratiques de soins et d’accompagnement palliatif sur deux périodes successives de 10 ans
8. Approche anthropologique des représentations parentales actuelles des convulsions chez l’enfant
9. Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données
10. Utilité de la ponction lombaire lors de la première convulsion fébrile chez l’enfant de moins de 18 mois. Étude rétrospective de 157 cas
11. SMA CLINICAL DATA
12. SMA – OUTCOME MEASURES AND REGISTRIES
13. Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature
14. Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A
15. SMA - CLINICAL
16. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
17. SMA – THERAPY
18. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study
19. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
20. Myopathies constitutionnelles : place des examens complémentaires
21. SMA Clinical Data, Outcome Measures and Registries : P.88Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
22. P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy
23. P.217Patterns of disease progression in patients with spinal muscular atrophy type 3 using the motor function measure
24. On the square-root approximation finite volume scheme for nonlinear drift-diffusion equations
25. 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
26. Mimetic staggered discretization of incompressible navier–Stokes for barycentric dual mesh
27. SMA THERAPIES I
28. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES
29. SMA THERAPIES I
30. NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY
31. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy
32. Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial
33. Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study
34. First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1
35. Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
36. Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases
37. Efficacy of ketogenic diet in resistant myoclono-astatic epilepsy: A french multicenter retrospective study
38. Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease
39. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study
40. RUFIPRAT: A retrospective study on the everyday clinical use of Rufinamide in children with refractory epilepsy
41. Syndrome de l’X fragile et anomalies de la substance blanche : à propos d’une fratrie
42. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study
43. Rhombencéphalite liée au virus respiratoire syncytial chez un garçon de 7 ans
44. Titin gene mutations presenting as centronuclear myophathies
45. Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA
46. Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
47. Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
48. Maladies neuromusculaires congénitales à expression respiratoire néonatale à l’exclusion de la dystrophie myotonique de type 1 et de l’amyotrophie spinale infantile. Stratégie d’exploration d’après une série de 19 enfants
49. Non-ambulant duchenne patients theoretically treatable by exon 53 skipping have severe phenotype
50. A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy
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