Results 231 to 240 of about 605,611 (288)
Evaluating effects of risdiplam in adults with spinal muscular atrophy: a monocentric study. [PDF]
ERJ Open ResCrescimanno G +6 more
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Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023. [PDF]
Int J Neonatal ScreenGrosse SD +7 more
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Disparities in Spinal Muscular Atrophy-Related Mortality in the United States, 2018-2023. [PDF]
NeuroSciAl-Salahat A, Sharma R.
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Adherence, Persistence, and Safety of Risdiplam in Spinal Muscular Atrophy: A Population-Based Cohort Study. [PDF]
Neurol TherChovi-Trull M +8 more
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Neurologic Clinics, 2015 Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J Kolb
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Current Neurology and Neuroscience Reports, 2004
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Susan T, Iannaccone +2 more
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Susan T, Iannaccone +2 more
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Continuum, 2020
This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)-approved gene-targeted therapies and mainstays of supportive SMA care.Over the past decades, an understanding of the role of SMN protein in the ...
Haluk, Topaloglu, Nancy, Kuntz
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This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)-approved gene-targeted therapies and mainstays of supportive SMA care.Over the past decades, an understanding of the role of SMN protein in the ...
Haluk, Topaloglu, Nancy, Kuntz
openaire +4 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
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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
openaire +2 more sources
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
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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
openaire +2 more sources
Seminars in Pediatric Neurology, 2002
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far.
Carmen, Cifuentes-Diaz +2 more
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Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far.
Carmen, Cifuentes-Diaz +2 more
openaire +2 more sources