Results 361 to 370 of about 120,291 (395)
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Risdiplam: A Review in Spinal Muscular Atrophy
CNS Drugs, 2022J. Paik
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Treatment of spinal muscular atrophy
Current Opinion in PediatricsPurpose of review The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.
Pera M. C., Mercuri E.
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Spinal muscular atrophy in childhood
Seminars in Pediatric Neurology, 1996Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data.
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Spinal Muscular Atrophy Diagnostics
Journal of Child Neurology, 2007Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene ( SMN), which exists in 2 nearly identical copies ( SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy.
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Oncologic emergencies and urgencies: A comprehensive review
Ca-A Cancer Journal for Clinicians, 2022Bonnie Gould Rothberg +2 more
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Regulation of axonal regeneration after mammalian spinal cord injury
Nature Reviews Molecular Cell Biology, 2023Binhai Zheng, Mark H Tuszynski
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[Fractures in spinal muscular atrophy].
Revista de neurologia, 2013To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions.Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnosed by means of X-rays were collected and the following parameters were analysed: type of spinal muscular ...
Febrer A +5 more
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Spinal muscular atrophy — insights and challenges in the treatment era
Nature Reviews Neurology, 2020E. Mercuri +4 more
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