Results 291 to 300 of about 159,025 (352)
Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy. [PDF]
Nat CommunMoradi M +7 more
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Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy. [PDF]
Orphanet J Rare DisYan Y +10 more
europepmc +1 more source
Beyond motor neurons: autonomic dysfunction and ECG findings in adults with 5q-spinal muscular atrophy. [PDF]
J NeurolBacara K +7 more
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Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3. [PDF]
Eur J PediatrRochman M +7 more
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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
Francesco Muntoni, Richard S Finkel
exaly +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
Francesco Muntoni, Richard S Finkel
exaly +3 more sources
Continuum, 2023
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 .In recent years, most states have incorporated SMA in their newborn screening panel.
Maryam, Oskoui, Laurent, Servais
openaire +3 more sources
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 .In recent years, most states have incorporated SMA in their newborn screening panel.
Maryam, Oskoui, Laurent, Servais
openaire +3 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 +2 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 +2 more sources
Current Neurology and Neuroscience Reports, 2004
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Susan T, Iannaccone +2 more
openaire +5 more sources
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Susan T, Iannaccone +2 more
openaire +5 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.
Carmen, Cifuentes-Diaz +2 more
openaire +2 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.
Carmen, Cifuentes-Diaz +2 more
openaire +2 more sources