1,341 results on '"Bruno, Claudio"'
Search Results
52. Commercial Near-Earth Space Launcher: Understanding System Integration
53. Our Progress Appears to Be Impeded
54. Early treatment of type II SMA slows rate of progression of scoliosis.
55. Quantitative Muscle Fatigue Assessment in Neuromuscular Disorders: A Pilot Study on Duchenne Pediatric Subjects
56. Genotype–phenotype correlations in recessive titinopathies
57. Growth patterns in children with spinal muscular atrophy
58. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
59. Management and outcome of benign acute childhood myositis in pediatric emergency department
60. Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
61. Biallelic variants inHMGCS1are a novel cause of rare rigid spine syndrome
62. Mutations in GMPPB Presenting with Pseudometabolic Myopathy
63. The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan–Deficient Muscular Dystrophy
64. The IAAM LTBP4Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
65. Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
66. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
67. Mars One-Year Mission Craft
68. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
69. The Crystal Structure of N-[(2E)-3-(4-Chlorophenyl)prop-2-en-1-yl]-4-methoxy-N-methylbenzenesulfonamide
70. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
71. Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder
72. JEWELFISH: 24-month Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Treatment-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P7-9.004)
73. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
74. Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy
75. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
76. Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients
77. Management and Surgery of Abnormal Invasive Placenta: Impact of MR Imaging
78. DAG1haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
79. Neural mechanisms underlying valence inferences to sound: The role of the right angular gyrus
80. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
81. Quantitative Muscle Fatigue Assessment in Neuromuscular Disorders: A Pilot Study on Duchenne Pediatric Subjects
82. Synthesis, antiarrhythmic activity, and toxicological evaluation of mexiletine analogues
83. The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
84. Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation
85. Clinical and molecular consequences of exon 78 deletion in DMD gene
86. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations
87. Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy
88. Recurrent sensory-motor neuropathy mimicking CIDP as predominant presentation of PDH deficiency
89. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies
90. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
91. The chemosensitizing agent lubeluzole binds calmodulin and inhibits Ca2+/calmodulin-dependent kinase II
92. “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
93. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
94. Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study
95. Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits
96. Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function
97. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
98. Spacecraft Propulsion
99. Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis
100. Impact of multi-component diffusion in turbulent combustion using direct numerical simulations
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