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Scoliosis correction in spinal muscular atrophy : the influence of genetic severity, functional level, and disease-modifying agents on postoperative outcomes. [PDF]
Çiftci S +6 more
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Eighteen Years with Spinal Muscular Atrophy (SMA) Type 1.
Borja, Valencia, John Robert, Bach
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Assistant Professor Dr, Vocational School of Higher Education for Technical Sciences, Division of Motor Vehicles and Transportation Technologies, Department of Automotive Technology, Iğdır University, Turkey & Graduate School of Natural and Applied Sciences, Major Science Department of Bioengineering and Bio-Sciences, Iğdır University, Turkey
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Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of disease-modifying drugs. [PDF]
Graça FFD, Iwabe C, França MC.
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Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)
Archives de Pédiatrie, 2020Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts
F, Audic, C, Barnerias
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Respiratory management of children with spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. The respiratory muscles are also involved with a weakness of the intercostal muscles and a relatively spared diaphragm. This respiratory muscle weakness translates into a cough impairment, resulting in poor clearance of airway secretions and recurrent ...
Fauroux B +6 more
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Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spinal cord and skeletal muscle atrophy. SMA is caused by mutations or deletions of the survival motor neuron 1 (SMN1) gene, and disease severity correlates with the expression levels of the nearly identical copy gene, SMN2.
Lefebvre, S., Sarret, Catherine
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