Results 191 to 200 of about 72,020 (228)
British Journal of Clinical Pharmacology, EarlyView.Aerospace medicine required controlled terrestrial models to investigate influences of altered atmosphere conditions, such as hypoxia, on human health and performance. These models could potentially be expanded to encompass disease conditions or treatment targets regulated through hypoxia or hypercapnia.
Titiaan E. Post +4 more
wiley +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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
European Journal of Paediatric Neurology, 2017
Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been
Rakhil S. Yadav +2 more
openaire +4 more sources
Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been
Rakhil S. Yadav +2 more
openaire +4 more sources
Annual review of genomics and human genetics (Print), 2020
Twenty-five years ago, the underlying genetic cause for one of the most common and devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified.
B. Wirth +3 more
semanticscholar +1 more source
Twenty-five years ago, the underlying genetic cause for one of the most common and devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified.
B. Wirth +3 more
semanticscholar +1 more source
2013
Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families.
Louis Viollet, Judith Melki
openaire +5 more sources
Spinal muscular atrophies (SMA) are genetic disorders characterized by degeneration of lower motor neurons. The most frequent form is caused by mutations of the survival motor neuron 1 gene (SMN1). The identification of this gene greatly improved diagnostic testing and family-planning options of SMA families.
Louis Viollet, Judith Melki
openaire +5 more sources
Pediatric Clinics of North America, 2015
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is the most common genetic cause of infant mortality.
openaire +3 more sources
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is the most common genetic cause of infant mortality.
openaire +3 more sources
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.
openaire +3 more sources
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.
openaire +3 more sources
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
semanticscholar +1 more source
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
openaire +3 more sources
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
openaire +3 more sources
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
semanticscholar +1 more source