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The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era. [PDF]
BiomedicinesMaretina M +4 more
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Erratum: Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations. [PDF]
Neurol Clin Practeuropepmc +1 more source
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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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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
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
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
openaire +4 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
openaire +4 more sources
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
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