251 results on '"Gidaro T"'
Search Results
52. Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype
53. Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA
54. ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy
55. Assessment of grip strength in Duchenne muscular dystrophy
56. New criteria for assessing the achievement of upper limbs in FSHD patients
57. Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring
58. Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
59. X-linked myotubular myopathy in ambulant patients
60. Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
61. Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study
62. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
63. An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
64. SMA THERAPIES I: P.168Treatment by nusinersen in spinal muscular atrophy type 1 patients older than 7 months: 14 months follow-up
65. CONGENITAL MYOPATHIES (CNM): P.146Baseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study
66. CONGENITAL MYOPATHIES (CNM): P.140Clinical changes over time in a European and North-american cohort of patients with X-linked myotubular myopathy
67. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.88Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
68. Non-ambulant duchenne patients theoretically treatable by exon 53 skipping have severe phenotype
69. Longitudinal study for GNE gene (ClinBio-GNE)
70. Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
71. P.463 - Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophy
72. P.458 - Activities of daily living detection using home activity monitoring device in Duchenne muscular dystrophy patients
73. P.434 - ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004
74. P.429 - Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial
75. P.428 - Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
76. P.383 - First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1
77. P.398 - Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers
78. P.382 - Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study
79. P.341 - Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003)
80. P.250 - Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
81. P.247 - New myotubular myopathy classification
82. P.176 - GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study
83. P.124 - Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
84. Predictive role of NCAM in the identification of patients with HIBM due to GNE mutations with atypical clinical phenotype
85. alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy
86. G.P.80
87. T.P.13
88. G.O.5
89. G.P.39
90. G.P.133
91. Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients
92. P.331 - Assessment of grip strength in Duchenne muscular dystrophy
93. P.272 - ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy
94. P.273 - Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study
95. P.268 - Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring
96. P.267 - New criteria for assessing the achievement of upper limbs in FSHD patients
97. P.92 - Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
98. P.184 - Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype
99. P.91 - X-linked myotubular myopathy in ambulant patients
100. P.43 - Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
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