Results 11 to 20 of about 840,189 (237)

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
doaj   +2 more sources

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
core   +6 more sources

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
doaj   +1 more source

Effect of Spinal Muscular Atrophy Awareness Sessions on Premarital Clients' Willingness to Perform Comprehensive SMA Genetic Testing [PDF]

Egyptian Journal of Health Care
Background: 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, Ayiat Allah Wagdy Farag, Hend Mohamed Elsayed Afefy, Eman Ebrahim Ahmed, Warda Abd-elmoaty Azab Yousef   +4 more
doaj   +1 more source

Therapeutic approaches for spinal muscular atrophy (SMA) [PDF]

Gene Therapy, 2017
Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and loss of muscle function due to severe motor neuron dysfunction, secondary to mutations in the survival motor neuron 1 (SMN1) gene.
Scoto, M., Finkel, R. S., Mercuri, E., Muntoni, F.   +3 more
openaire   +4 more sources

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, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, Pierre-François Pradat   +23 more
doaj   +1 more source

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, Przemysław Szabat, Marta Szabat, Grzegorz Boreński, Magdalena Wójcik, Joanna Milanowska, Konrad Rejdak   +6 more
doaj   +3 more sources

The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA

Cell Reports, 2019
Summary: Movement is an essential behavior requiring the assembly and refinement of spinal motor circuits. However, the mechanisms responsible for circuit refinement and synapse maintenance are poorly understood.
Aleksandra Vukojicic, Nicolas Delestrée, Emily V. Fletcher, John G. Pagiazitis, Sethu Sankaranarayanan, Ted A. Yednock, Ben A. Barres, George Z. Mentis   +7 more
doaj   +1 more source

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]

Kosin Medical Journal, 2019
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj   +1 more source

Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila

Nature Communications, 2020
Spinal muscular atrophy (SMA) is associated with minor splicing-related defects. Here the authors develop Drosophila models with minor spliceosomal-snRNA deletions, and demonstrate SMA-like phenotypes.
Liang Li, Zhan Ding, Ting-Lin Pang, Bei Zhang, Chen-Hui Li, An-Min Liang, Yu-Ru Wang, Yu Zhou, Yu-Jie Fan, Yong-Zhen Xu   +9 more
doaj   +1 more source