Results 21 to 30 of about 1,670 (170)

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   +1 more source

Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA) [PDF]

Neurology, 2018
To determine the frequency and relative importance of symptoms experienced by adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a higher burden of disease in this population.We conducted a cross-sectional study of 359 adults with SMA using the International SMA Patient Registry.
Phillip Mongiovi, Connie Garland, Michael Hunter, Chad Heatwole, John T. Kissel, Nuran Dilek, Elizabeth Luebbe, Nicholas Johnson, Michael P. McDermott   +8 more
openaire   +2 more sources

Factors modifying the course of spinal muscular atrophy 5q

Нервно-мышечные болезни
Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons of the anterior horns of the spinal ...
M. A. Akhkiamova, O. A. Shchagina, A. V. Polyakov   +2 more
doaj   +1 more source

Anaesthetic management of spinal muscular atrophy in a patient with pneumothorax: a case report

Journal of the Pakistan Medical Association
One of the most prevalent hereditary neuromuscular disorders is spinal muscular atrophy (SMA). Progressive muscular weakness and an irreversible loss of alpha motor neurons in the spinal cord are the hallmarks of SMA and are associated with increased ...
Madeeha Rasheed, Khalid Ahsan
doaj   +1 more source

Cognitive performance of children with spinal muscular atrophy: A systematic review

Dementia & Neuropsychologia, 2019
Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant.
Graziela Jorge Polido, Mariana Mangini Vaz de Miranda, Nelson Carvas Junior, Rodrigo de Holanda Mendonça, Fátima Aparecida Caromano, Umbertina Conti Reed, Edmar Zanoteli, Mariana Callil Voos   +7 more
doaj   +1 more source

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, Faisal Abbas, Hosam Al-Jehani, Ahmed Ammar   +3 more
doaj   +1 more source

The social-economic burden of spinal muscular atrophy in Russia

Фармакоэкономика, 2021
Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin, D. V. Vlodavets, A. A. Kurylev, Yu. Ye. Balykina, M. A. Proskurin, S. A. Mishinova, O. Yu. Germanenko, N. Yu. Kolbina   +7 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene

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, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu   +7 more
doaj  

From Mechanoelectric Conversion to Tissue Regeneration: Translational Progress in Piezoelectric Materials

Advanced Materials, EarlyView.
This review highlights recent progress in piezoelectric materials for regenerative medicine, emphasizing their ability to convert mechanical stimuli into bioelectric signals that promote tissue repair. Key discussions cover the intrinsic piezoelectric properties of biological tissues, co‐stimulation cellular mechanisms for tissue regeneration, and ...
Xinyu Wang, Sílvio Terra Stefanello, Victor Shahin, Yun Qian   +3 more
wiley   +1 more source

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Neuromuscular Disorders, 2011
Spinal muscular atrophy (SMA) is caused by loss or mutations of the survival motor neuron 1 gene (SMN1). Its highly homologous copy, SMN2, is present in all SMA cases and is a phenotypic modifier. There are cases where asymptomatic siblings of typical SMA patients possess a homozygous deletion of SMN1 just like their symptomatic brothers or sisters ...
Eduardo F. Tizzano, Eva Also-Rallo, Montserrat Baiget, Rebeca Martínez-Hernández, Laura Alias, Concepción Hernández-Chico, Francisco Javier Rodríguez-Álvarez, Sara Bernal, José M. Millán   +8 more
openaire   +4 more sources