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The changing natural history of spinal muscular atrophy type 1

The changing natural history of spinal muscular atrophy type 1

http://www.wikidata.org/entity/Q28257091

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Development of a single vector system that enhances trans-splicing of SMN2 transcripts Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy type I Spinal muscular atrophy: from gene discovery to clinical trials Spinal Muscular Atrophy Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study SMN in spinal muscular atrophy and snRNP biogenesis Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy.Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Spinal muscular atrophy: mechanisms and therapeutic strategies.A multi-source approach to determine SMA incidence and research ready population Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy On the road with WRAP53β: guardian of Cajal bodies and genome integrity Observational study of spinal muscular atrophy type I and implications for clinical trials.Therapeutic developments in spinal muscular atrophy.Growth and nutrition in children with trichothiodystrophy.Spinal Muscular Atrophy Therapeutics: Where do we Stand?Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein.Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health Increased IGF-1 in muscle modulates the phenotype of severe SMA mice Spinal muscular atrophy: diagnosis and management in a new therapeutic era Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival?Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings.Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I Spinal muscular atrophy: journeying from bench to bedside Long term non-invasive ventilation in children: impact on survival and transition to adult care.Vascular perfusion abnormalities in infants with spinal muscular atrophy.Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy.Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I.Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy.Prognostic Value of Initial Assessment of Residual Hypoventilation Using Nocturnal Capnography in Mechanically Ventilated Neuromuscular Patients: A 5-Year Follow-up Study Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module.

P2860

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P2860

The changing natural history of spinal muscular atrophy type 1

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