766 results on '"Ryan, Monique M"'
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2. International retrospective natural history study of LMNA-related congenital muscular dystrophy
3. International retrospective natural history study of LMNA-related congenital muscular dystrophy.
4. Correlation between whole body muscle MRI and functional measures in paediatric patients with facioscapulohumeral muscular dystrophy
5. Rituximab in juvenile myasthenia gravis-an international cohort study and literature review
6. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
7. Pilot study of a virtual weight management program for Duchenne muscular dystrophy
8. Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy
9. A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
10. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
11. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
12. Aicardi Syndrome Is a Genetically Heterogeneous Disorder
13. Acquired and Hereditary Neuropathies
14. Investigation of the activation of the temporalis and masseter muscles in voluntary and spontaneous smile production
15. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
16. Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?
17. Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study
18. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study
19. Deterioration in gait and functional ambulation in children and adolescents with Charcot–Marie–Tooth disease over 12 months
20. DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
21. Chapter 656 - Guillain-Barré Syndrome
22. Chapter 655 - Autonomic Neuropathies
23. Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
24. Describing nutrition in spinal muscular atrophy: A systematic review
25. Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function
26. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.
27. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy
28. The Relationship between Obesity and Clinical Outcomes in Young People with Duchenne Muscular Dystrophy
29. Therapeutic Options to Improve Bone Health Outcomes in Duchenne Muscular Dystrophy: Zoledronic Acid and Pubertal Induction
30. Auditory Function in Children with Charcot-Marie-Tooth Disease
31. Scientific rationale for a higher dose of nusinersen
32. Delivering multidisciplinary neuromuscular care for children via telehealth
33. Feasibility of a Computerized Method to Measure Quality of 'Everyday' Life in Children with Neuromuscular Disorders
34. Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy
35. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
36. Autoimmune myasthenia gravis, immunotherapy and thymectomy in children
37. Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
38. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
39. The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy
40. Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function
41. Gaining Consent for Publication in Difficult Cases Involving Children
42. Neurologic Melioidosis: Case Report of a Rare Cause of Acute Flaccid Paralysis
43. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
44. ‘A short time but a lovely little short time’: Bereaved parentsʼ experiences of having a child with spinal muscular atrophy type 1
45. Characterising gait in paediatric neuromuscular disorders: an observational study of spatio-temporal gait in a clinical cohort.
46. Preface to the Second Edition
47. Disorders of the Ocular Motor Cranial Nerves and Extraocular Muscles
48. Introduction
49. Acute Polyneuropathies
50. Radiculopathies and Plexopathies
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