Given the upregulation of UCHL1 in denervation and spinalmuscleatrophy, our finding advances understanding of regulators that are involved in muscle wasting.
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Lucy Frost's son George has spinalmuscularatrophy, which affects his mobility.
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He lives with spinalmuscularatrophy type 2, severely restricting movement below his neck.
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Both young men have spinalmuscularatrophy, which leaves their bodies confined to motorised wheelchairs.
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The 18-year-old, from Dartford, has spinalmuscularatrophy and needs assistance with most basic tasks.
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Stella has spinalmuscularatrophy and uses a wheelchair.
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Born with spinalmuscularatrophy, his condition is progressing gradually as his muscles lose their strength.
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A practice standard for spinalmuscularatrophy is urgently needed to help with the multidisciplinary care of these patients.
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Morgan has spinalmuscularatrophy type 2, a rare genetic disorder that affects the nerve cells controlling voluntary muscles.
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He has a disability, spinalmuscularatrophy, which means he uses a wheelchair and it also affects his breathing.
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The MN disease spinalmuscularatrophy (SMA) is attributable to reduced levels of the ubiquitous protein SMN.
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Children suffering from spinalmuscularatrophy often never achieve the simplest motor milestones like walking, crawling, or sitting up.
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Parents of children with spinalmuscularatrophy have been campaigning for some time for access to Nusinersen (Spinraza).
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Recently, improvements in vector design and production have culminated in near-complete correction of a mouse model of spinalmuscularatrophy.
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This case illustrates that the prognosis for spinalmuscularatrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty.
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The motor neuron disease spinalmuscularatrophy (SMA) is one of the leading genetic killers of infants worldwide.
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Methods: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinalmuscularatrophy.