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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling. [PDF]
Hum Mol GenetZwartkruis MM +14 more
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Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy. [PDF]
BMC BiotechnolWijaya YOS +3 more
europepmc +1 more source
Different patterns of fasciculation in spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis: a muscle ultrasonographic study. [PDF]
BMJ Neurol OpenNara T +11 more
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Current Neurology and Neuroscience Reports, 2004
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Stephen A. Smith +2 more
openaire +7 more sources
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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
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 +2 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 +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
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
openaire +3 more sources
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