Results 291 to 300 of about 116,027 (330)
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The Lancet Child & Adolescent Health, 2021
BACKGROUND Nusinersen showed a favourable benefit-risk profile in participants with infantile-onset spinal muscular atrophy at the interim analysis of a phase 2 clinical study.
R. Finkel +13 more
semanticscholar +1 more source
BACKGROUND Nusinersen showed a favourable benefit-risk profile in participants with infantile-onset spinal muscular atrophy at the interim analysis of a phase 2 clinical study.
R. Finkel +13 more
semanticscholar +1 more source
Pediatric Clinics of North America, 2015
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is the most common genetic cause of infant mortality.
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Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is the most common genetic cause of infant mortality.
openaire +2 more sources
2013
Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families.
Louis, Viollet, Judith, Melki
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Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families.
Louis, Viollet, Judith, Melki
openaire +3 more sources
Challenges and opportunities in spinal muscular atrophy therapeutics.
Lancet NeurologySpinal muscular atrophy was the most common inherited cause of infant death until 2016, when three therapies became available: the antisense oligonucleotide nusinersen, gene replacement therapy with onasemnogene abeparvovec, and the small-molecule ...
Crystal J J Yeo +2 more
semanticscholar +1 more source
Newborn screening programs for spinal muscular atrophy worldwide in 2023
Journal of Neuromuscular DiseasesBackground Spinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular ...
Eva Vrscaj +3 more
semanticscholar +1 more source
2009
Spinal muscular atrophies (SMA) are frequent autosomal recessive disorders characterized by degeneration of lower motor neurons. SMA are caused by mutations of the survival of motor neuron gene (SMN1) leading to a reduction of the SMN protein amount.
Jérémie, Vitte +4 more
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Spinal muscular atrophies (SMA) are frequent autosomal recessive disorders characterized by degeneration of lower motor neurons. SMA are caused by mutations of the survival of motor neuron gene (SMN1) leading to a reduction of the SMN protein amount.
Jérémie, Vitte +4 more
openaire +2 more sources
Lancet Neurology, 2020
BACKGROUND Nusinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patients of all ages. Although clinical trials have shown improvements in motor function in infants and children treated with the drug, data for ...
T. Hagenacker +31 more
semanticscholar +1 more source
BACKGROUND Nusinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patients of all ages. Although clinical trials have shown improvements in motor function in infants and children treated with the drug, data for ...
T. Hagenacker +31 more
semanticscholar +1 more source
Annual review of genomics and human genetics (Print), 2020
Twenty-five years ago, the underlying genetic cause for one of the most common and devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified.
B. Wirth +3 more
semanticscholar +1 more source
Twenty-five years ago, the underlying genetic cause for one of the most common and devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified.
B. Wirth +3 more
semanticscholar +1 more source
American Journal of Physical Medicine & Rehabilitation, 1996
Classification of the varying types of spinal muscular atrophy is somewhat confused as there are a number of different types. Werdnig Hoffman disease (infantile type or type 1) and Kugelberg—Welander (juvenile type or type 3) are the two most common types seen in childhood. (Type 2 is intermediate in severity between the two.)
Alberto Lissoni +3 more
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Classification of the varying types of spinal muscular atrophy is somewhat confused as there are a number of different types. Werdnig Hoffman disease (infantile type or type 1) and Kugelberg—Welander (juvenile type or type 3) are the two most common types seen in childhood. (Type 2 is intermediate in severity between the two.)
Alberto Lissoni +3 more
openaire +2 more sources
Current Opinion in Neurology, 1997
Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
openaire +2 more sources
Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
openaire +2 more sources