Results 281 to 290 of about 134,576 (312)
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Current Neurology and Neuroscience Reports, 2004
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Stephen A. Smith +2 more
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Stephen A. Smith +2 more
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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
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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 +3 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 +4 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.
Judith Melki +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.
Judith Melki +2 more
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CONTINUUM: Lifelong Learning in Neurology, 2023
ABSTRACT OBJECTIVE 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. LATEST DEVELOPMENTS In recent years, most states have incorporated SMA in ...
Maryam, Oskoui, Laurent, Servais
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ABSTRACT OBJECTIVE 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. LATEST DEVELOPMENTS In recent years, most states have incorporated SMA in ...
Maryam, Oskoui, Laurent, Servais
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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 +2 more
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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 +2 more
openaire +3 more sources
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 ...
Kenneth H. Fischbeck, Eveline S. Arnold
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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 ...
Kenneth H. Fischbeck, Eveline S. Arnold
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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.
Randolph K. Byers, Betty 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.
Randolph K. Byers, Betty Q. Banker
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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.
openaire +3 more sources