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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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Functional and surgical treatments in patients with spinal muscular atrophy (SMA)
Archives de Pédiatrie, 2020Spinal muscular atrophies (SMA type 1, 2, 3) present with various severities according to the motor semeiology related to lesions of the peripheral nervous system (lesions of the anterior horn cells motoneuron or even brain stem). Early motor deficiency causes skeletal deformities responsible for the alteration or even absence of motor skills ...
C, Boulay +3 more
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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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15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA)
Journal of Neurology, Neurosurgery & Psychiatry, 2019BackgroundOnasemnogene abeparvovec (AVXS-101) is a gene-replacement therapy that treats the genetic root cause of SMA, biallelic survival motor neuron 1 gene (SMN1) deletion/mutation. In a phase 1 study, AVXS-101 improved survival and motor function of symptomatic SMA type 1 patients.
Kevin A Strauss +22 more
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Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy (SMA) Disease
Current Genomics, 2006Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disorder characterised by the loss of upper and/or lower motor neurons. SMA is the leading genetic cause of infant mortality with an incidence of 1 in 6000 live births and a carrier frequency of about 1 in 50.
SANGIUOLO, FEDERICA CARLA +4 more
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Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)
Gene, 2012Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms.
Mona L, Essawi +3 more
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Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).
Clinical neuropathology, 1990We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis ...
S M, Chou +6 more
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