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CONTINUUM: Lifelong Learning in Neurology, 2020
ABSTRACT PURPOSE OF REVIEW This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)–approved gene-targeted therapies and mainstays of supportive SMA care.
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ABSTRACT PURPOSE OF REVIEW This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)–approved gene-targeted therapies and mainstays of supportive SMA care.
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New treatments in spinal muscular atrophy: an overview of currently available data
Expert Opinion on Pharmacotherapy, 2020Introduction: Spinal muscular atrophy (SMA) is one of the most common inherited neuromuscular disorders. It causes progressive muscle weakness and results in significant disability.
S. Ramdas, L. Servais
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2009
Spinal muscular atrophies (SMA) are frequent autosomal recessive disorders characterized by degeneration of lower motor neurons. SMA are caused by mutations of the survival of motor neuron gene (SMN1) leading to a reduction of the SMN protein amount.
Nasim Warwar +4 more
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Spinal muscular atrophies (SMA) are frequent autosomal recessive disorders characterized by degeneration of lower motor neurons. SMA are caused by mutations of the survival of motor neuron gene (SMN1) leading to a reduction of the SMN protein amount.
Nasim Warwar +4 more
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Combination therapy with onasemnogene and risdiplam in spinal muscular atrophy type 1
Muscle and Nerve, 2021There are currently three medications approved for spinal muscular atrophy (SMA), but the use of these medications in combination has not been well described.
Kelly Oechsel, M. Cartwright
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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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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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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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