Results 291 to 300 of about 113,624 (330)
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Current Neurology and Neuroscience Reports, 2004
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Stephen A. Smith +2 more
+9 more sources
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Stephen A. Smith +2 more
+9 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 +3 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 +3 more sources
Journal of Paediatrics and Child Health, 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
+8 more sources
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
+8 more sources
European Journal of Neurology, 2022
Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene.
Eugenio Mercuri +20 more
semanticscholar +1 more source
Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene.
Eugenio Mercuri +20 more
semanticscholar +1 more source
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
openaire +2 more sources
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
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.
Judith Melki +2 more
openaire +3 more sources
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
openaire +3 more sources
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
European Journal of Paediatric Neurology, 2017
Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been
Rakhil S. Yadav +2 more
openaire +4 more sources
Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been
Rakhil S. Yadav +2 more
openaire +4 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
openaire +5 more sources
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 +5 more sources
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.
openaire +3 more sources
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