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City Naarden / Rome / / Company Thompson AG / Robb SA / GE / Google / BioMed Central Ltd. / Creative Commons / / Country Netherlands / Germany / Italy / / / Event FDA Phase / / Facility Institute of Medical Genetics / Children’s Research Hospital / SMN complex / Rink BD / Catholic University / / IndustryTerm gas exchange / important tools / appropriate assistive devices / transportation / high carrier frequency / carrier screening programs / palliative tool / gene products / splice site / energy metabolism / translational applications / carrier testing / direct carrier testing / weak cough effectiveness cough-assist device / carrier frequency / carrier screening / treatment of cystic fibrosis / spinal muscular atrophy-determining gene product / treatment of thoracic insufficiency syndrome / online submission / spinal muscular atrophy disease gene product / carrier test / / MedicalCondition congenital myotonic dystrophy / progressive early-onset scoliosis / Rare Diseases / Congenital heart disease / JE / poor mobility such obesity / proximal autosomal recessive spinal muscular atrophy / autosomal recessive spinal muscular atrophy / chronic forms / peak cough / dysfunction / ALS / acute hypoxic ischemic encephalopathy / juvenile amyotrophic lateral sclerosis / endstage disease / congenital and neuromuscular scoliosis / severe scoliosis / progressive muscular atrophy / paediatric spinal muscular atrophy / disorder / chronic childhood-onset spinal muscular atrophy / tongue fasciculation / scoliosis / mostly atrial and ventricular septal defects / III/IV spinal muscular atrophy / thoracic insufficiency syndrome / malnutrition / paralysis / primary myopathies / Aspiration pneumonia / i.e. myopathies / respiratory failure / chronic spinal muscular atrophy / congenital disorders / pulmonary function / pulmonary morbidity / symmetrical flaccid paralysis / sleep-related hypoventilation / infantile hypotonia / proximal muscular weakness / surgical gastroesophageal reflux disease / recurrent chest infections / Very severe spinal muscular atrophy / Proximal spinal muscular atrophy / osteoporosis / early respiratory failure / contractures / Spinal muscular atrophy 5q / common fatal autosomal recessive disorder / disorders / neuromuscular disorders / unaided hypotonia / chronic and later onset forms / spinal muscular atrophy disease / minor muscular weakness / X-linked spinal muscular atrophy / motor neurons Disease / weak cough effectiveness cough / Severe spinal muscular atrophy / severe neuromuscular disease / fasciculation / inherited motor neuron disorders / Kugelberg-Welander disease / severe hypotonia / contracture / generalized muscle weakness / infantile spinal muscular atrophy / muscular atrophy / early infantile hereditary cases / UBA1 Contractures / cystic fibrosis / progressive proximal muscle weakness / motor neuron disease / nocturnal hypoventilation / osteopenia / arrhythmia / absent and fine tremors / congenital myopathies / spinal deformity / spinal muscular atrophy / disease / autosomal recessive neuromuscular disease / metabolic myopathies / congenital myasthenic syndromes / hypotonia and/ / early scoliosis / joint contractures / diaphragmatic paralysis / Pulmonary disease / pain / common genetic disorders / Werdnig-Hoffmann disease / neonatal sepsis / PraderWilli syndrome / excluded and other motor neuron disorders / cough / severe infantile spinal muscular atrophy / respiratory distress / breathing in primary myopathies / / MedicalTreatment Stem cell therapy / nutritional support / surgery / surgical treatments / counseling / counselling / mechanical ventilation / Gene therapy / drug therapy / / NaturalFeature Berciano MT / Pastore MT / / Organization Catholic University / Department of Neurosciences / Institute of Medical Genetics / SAHA administration / Children’s Research Hospital / SMN / Unit of Pediatric Neurology / Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders / / Person Ann Neurol / Mo Med / Van Colen / Jesús Barceló / S. Onofrio / Arch Psychiatr Nervenkr / / Position author / mouse model for spinal muscular atrophy / Harper / Singer / / Product riluzole / albuterol / valproic acid / valproic / / ProgrammingLanguage D / / ProvinceOrState Alaska / / PublishedMedium Molecular Biology / PLoS One / / RadioStation Pinto AM / Richards AM / Avila AM / Haidet AM / Connolly AM / / Technology cell therapy / stem cells / gene expression / Genotype / alpha / transplantation / MRI / Gene therapy / 1 Diagnostic algorithm / / URL www.biomedcentral.com/submit / http / SocialTag 
D’Amico et al. Orphanet Journal of Rare Diseases 2011, 6:71 http://www.ojrd.com/content[removed]