Letter: Diagnosis of childhood spinal muscular atrophy. [PDF]
BMJ, 1973 Brian Neville
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The Neurobiology of Childhood Spinal Muscular Atrophy
Neurobiology of Disease, 1996 Thomas O. Crawford, Carlos A. Pardo
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PROGRESSIVE SPINAL MUSCULAR ATROPHY IN INFANCY AND CHILDHOOD
Acta Neurologica Scandinavica, 2009 Ingrid Gamstorp
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Comment on SMN2 deletion in childhood‐onset spinal muscular atrophy [PDF]
American Journal of Medical Genetics, 2002 Shuji Ogino +2 more
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Research progress of spinal muscular atrophy treatment in children
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO +3 more
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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
Annals of Clinical and Translational Neurology, 2020 Background Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis.
Ana T. Marcos +8 more
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Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months [PDF]
Annals of Child NeurologyPurpose This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease ...
Yun Jeong Lee +5 more
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Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman
Sultan Qaboos University Medical Journal, 2017 Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord.
Roshan Koul +4 more
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Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
Annals of Clinical and Translational Neurology, 2019 Background Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical
Maryam Sedghi +9 more
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