Results 11 to 20 of about 888,799 (202)
Spinal Muscular Atrophy With Myoclonic Epilepsy
Archives of Epilepsy, 2017 Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Buket ÖZKARA, Faik BUDAK
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Spinal muscular atrophy and ependymoma
Saudi Journal of Medicine and Medical Sciences, 2017 Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr +3 more
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Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]
, 2013 Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
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Proximal spinal muscular atrophy: current orthopedic perspective
The Application of Clinical Genetics, 2013 Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Haaker G, Fujak A
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Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review [PDF]
International Journal of Molecular Sciences, 2021 Wendy Wai Yeng Yeo +2 more
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Journal of Cardiothoracic Surgery, 2023 Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer +3 more
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Stem Cell Research, 2023 Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death.
Wenshu Zeng +7 more
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Effect of Spinal Muscular Atrophy Awareness Sessions on Premarital Clients' Willingness to Perform Comprehensive SMA Genetic Testing [PDF]
Egyptian Journal of Health CareBackground: Premarital counselling in healthcare has a positive reflection on health and wellbeing of future families and inurn the whole community because it makes premarital clients feel energized, empowered with sufficient knowledge.
Nany Mohamed Erfan +4 more
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New prospects for the treatment of Spinal Muscular Atrophy
Journal of Education, Health and Sport, 2019 Introduction: Spinal muscular atrophy (SMA) is one of the most common genetically determined causes of infant and young child death. The aim of the study: Review of medical literature on therapeutic strategies used in the treatment of SMA. Material and
Julita Poleszak +6 more
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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study
NeuroImage: Clinical, 2019 Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models.
Giorgia Querin +23 more
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