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1985
The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority.
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The spinal muscular atrophies are a group of inherited disorders characterized by degeneration of anterior horn cells (Figure 5.1) and progressive muscle weakness. Pearn1 has defined seven separate SMA syndromes on a clinical and genetic basis, of which acute infantile and chronic childhood SMA form the majority.
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Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020The pediatrician has a privileged relationship with a child with infantile spinal muscular atrophy (SMA). At all times, he/she must be the child's mentor, promoting a comprehensive approach and support in order to ensure the best possible solution for the patient's autonomy. In all circumstances, an ethical stance is essential.
B, Chabrol, I, Desguerre
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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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Isokinetic test and exercise in spinal muscular atrophy (SMA)
Images of the Twenty-First Century. Proceedings of the Annual International Engineering in Medicine and Biology Society, 2003Six patients, (four children aged 6 to 12, and two young men aged 17 and 23) affected by the mild form of SMA underwent bilateral isokinetic tests and isokinetic strengthening exercise on the weaker leg three times weekly for 1 month. Children obtained an average of 33% of increase in muscle strength for both extensors and flexors of the knee in the ...
C. Granata +5 more
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Infantile spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020B, Chabrol, I, Desguerre
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Characterization of an in vitro model of Spinal Muscular Atrophy (SMA)
2023Spinal muscular atrophy (SMA) is a genetic autosomal recessive neurodegenerative disease that is the number one cause of genetic infant mortality worldwide. SMN (Survival Motor Neuron) protein depletion is responsible for the SMA phenotype. SMN is encoded in humans by the SMN1, and its paralog SMN2, although the latter only transcribes a small amount ...
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Morpholino-Mediated Exon Inclusion for Spinal Muscular Atrophy (SMA)
The application of antisense oligonucleotides (AONs) to modify pre-messenger RNA splicing has great potential for treating genetic diseases. The strategies used to redirect splicing for therapeutic purposes involve the use of AONs complementary to splice motifs, enhancer or silencer sequences.Haiyan, Zhou, Francesco, Muntoni
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The genetic heterogeneity of spinal muscular atrophy (SMA).
Birth defects original article series, 1975The clinical picture of the spinal muscular atrophy varies greatly with respect to age of onset, speed of progression, severity and distribution of muscular atrophy, weakness and contractures, yet cases occurring within a family usually show concordant clinical features. Thus, genetic heterogeneity has to be assumed.
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