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Spinal Muscular Atrophy in Colombia: Nationwide Incidence, Demographic Distribution, and Healthcare Challenges. [PDF]
CureusVillamil-Osorio M +4 more
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Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation. [PDF]
Int J Neonatal ScreenThokala P +6 more
europepmc +1 more source
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Nature Reviews Disease Primers, 2022
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few
Eugenio Mercuri +4 more
semanticscholar +5 more sources
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary supportive care of SMA were established in the past few
Eugenio Mercuri +4 more
semanticscholar +5 more sources
Continuum, 2023
This article provides a comprehensive overview of the diagnostic assessment and treatment of individuals with spinal muscular atrophy (SMA) due to homozygous deletions of SMN1 .In recent years, most states have incorporated SMA in their newborn screening panel.
Maryam, Oskoui, Laurent, Servais
+5 more sources
This article provides a comprehensive overview of the diagnostic assessment and treatment of individuals with spinal muscular atrophy (SMA) due to homozygous deletions of SMN1 .In recent years, most states have incorporated SMA in their newborn screening panel.
Maryam, Oskoui, Laurent, Servais
+5 more sources
Seminars in Pediatric Neurology, 2021
Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam.
Stefan, Nicolau +3 more
openaire +2 more sources
Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam.
Stefan, Nicolau +3 more
openaire +2 more sources
Current Neurology and Neuroscience Reports, 2004
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Susan T, Iannaccone +2 more
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Susan T, Iannaccone +2 more
+7 more sources