Results 301 to 310 of about 159,025 (352)
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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
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Neurologic Clinics, 2015
Progressive muscular atrophy (PMA) is a rare, sporadic, adult-onset motor neuron disease, clinically characterized by isolated lower motor neuron features; however, clinically evident upper motor neuron signs may emerge in some patients. Subclinical upper motor neuron involvement is identified pathologically, radiologically, and neurophysiologically in
Teerin, Liewluck, David S, Saperstein
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Progressive muscular atrophy (PMA) is a rare, sporadic, adult-onset motor neuron disease, clinically characterized by isolated lower motor neuron features; however, clinically evident upper motor neuron signs may emerge in some patients. Subclinical upper motor neuron involvement is identified pathologically, radiologically, and neurophysiologically in
Teerin, Liewluck, David S, Saperstein
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2018
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport ...
Eveline S, Arnold, Kenneth H, Fischbeck
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Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport ...
Eveline S, Arnold, Kenneth H, Fischbeck
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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.
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Archives of Neurology, 1961
Although infantile muscular atrophy has been recognized for about 70 years, a comprehensive description of its variable clinical course is generally wanting. The purpose of the present article is to call attention to the wide spectrum of its onset and severity and to correlate these features with the pathological changes.
R K, BYERS, B Q, BANKER
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Although infantile muscular atrophy has been recognized for about 70 years, a comprehensive description of its variable clinical course is generally wanting. The purpose of the present article is to call attention to the wide spectrum of its onset and severity and to correlate these features with the pathological changes.
R K, BYERS, B Q, BANKER
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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
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Childhood spinal muscular atrophy
2023Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem.
David S, Younger, Jerry R, Mendell
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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
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Neurogenic Muscular Atrophy Simulating Muscular Dystrophy
Archives of Neurology, 1960Degenerative lower motor neuron disease accompanied by weakness affecting predominantly the proximal muscles of the extremities, a syndrome closely simulating muscular dystrophy, is apparently very rare. Although there have been occasional instances in the neurologic literature where such cases have been mentioned, but without the inclusion of detailed
K R, MAGEE, R N, DEJONG
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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.
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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.
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