Results 41 to 50 of about 34,045 (87)
Nusinersen for spinal muscular atrophy [PDF]
Therapeutic Advances in Neurological Disorders, 2018 Claudia D. Wurster, Albert C. Ludolph
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Nusinersen versus Sham Control in Later‐Onset Spinal Muscular Atrophy
New England Journal of Medicine, 2018 E. Mercuri +22 more
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Report of a Case of Progressive Muscular Atrophy (Spinal) with Mental Symptoms
J. E. Clark
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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
semanticscholar +3 more sources
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
semanticscholar +3 more sources
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
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
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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
openaire +2 more sources