Results 201 to 210 of about 72,020 (228)
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Seminars in Neurology, 1998
The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor,
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The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor,
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Current Opinion in Neurology, 1997
Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
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Proximal childhood spinal muscular atrophy is a common autosomal recessive disorder that results in degeneration of lower motor neurons of the spinal cord. The defective gene, survival of motor neuron, encodes a novel protein with a putative role in RNA metabolism.
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Population-based analysis of survival in spinal muscular atrophy
Neurology, 2020Objective To investigate probabilities of survival and its surrogate, that is, mechanical ventilation, in patients with spinal muscular atrophy (SMA).
C. Wijngaarde +8 more
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Journal of Inherited Metabolic Disease, 1999
AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
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AbstractSpinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene ...
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Pregnancy and spinal muscular atrophy
Journal of Neurology, 1992We investigated the course and outcome of pregnancy and its influence on muscle weakness in 12 females with proximal spinal muscular atrophy (SMA) who delivered a total of 17 infants when aged 18-32 years. In 4 females the SMA clearly followed an autosomal recessive mode of inheritance.
Sabine Rudnik-Schöneborn +3 more
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Hypogkycaemia in spinal muscular atrophy
The Lancet, 1995Repeated episodes of hypoglycaemia were observed in two girls with spinal muscular atrophy. During a 12 h fast blood glucose fell to 3.4 and 2.7 mmol/L, respectively. One girl developed hypoglycaemia and ketonuria. Reduced gluconeogenesis was probably the cause of hypoglycaemia in these patients who had a muscle mass of about 10% of bodyweight (normal ...
J. Kondrup +3 more
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Bone and Spinal Muscular Atrophy
Bone, 2015Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, leading to progressive denervation atrophy in the involved skeletal muscles. Bone status has been poorly studied. We assessed bone metabolism, bone mineral density (BMD) and fractures in 30 children (age range 15-171 months) affected by SMA types 2 and 3.
Silvia Vai +8 more
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Spinal Surgery in Spinal Muscular Atrophy
Journal of Pediatric Orthopaedics, 1985Fifteen patients with surgical treatment of spinal muscular atrophy were reviewed. The curve pattern was thoracic in 3, thoracolumbar in 11, and double thoracic and thoracolumbar in 1. Follow-up averaged 31 months. Eleven patients underwent posterior spinal fusion with Harrington instrumentation, with segmental wiring in four, and two had Luque ...
John E. Lonstein +3 more
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Spinal Muscular Atrophy in the Neonate
Journal of Obstetric, Gynecologic & Neonatal Nursing, 2004Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality.
Kenneth H. Fischbeck +2 more
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Risdiplam: A Review in Spinal Muscular Atrophy
CNS Drugs, 2022J. Paik
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