Results 31 to 40 of about 840,189 (237)

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

Review of Spinal Muscular Atrophy (SMA) in Brown Swiss Cattle [PDF]

Journal of Veterinary Diagnostic Investigation, 1993
Spinal muscular atrophy (SMA) is a heritable condition in Brown Swiss cattle characterized by profound muscular atrophy affecting appendicular muscles, particularly of the rear limb. Axial muscles are also affected. The affected ventral horn neurons are initially swollen and chromatolytic; this is followed by a shrunken appearance, necrosis, and ...
D, Troyer, W C, Cash, J, Vestweber, T, Hiraga, H W, Leipold   +4 more
openaire   +2 more sources

Research progress of spinal muscular atrophy treatment in children

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO, Ying-qian LU, Ning WANG, Wan-jin CHEN   +3 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

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +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 SMN protein is a key regulator of nuclear architecture in differentiating neuroblastoma cells [PDF]

, 2009
The cell nucleus contains two closely related structures, Cajal bodies (CBs) and gems. CBs are the first site of accumulation of newly assembled splicing snRNPs (small nuclear ribonucleoproteins) following their import into the nucleus, before they form ...
Nicholas P. Kinnear, Lisa Oram, Julie Burza, Clelland, Allyson K., Oram, Lisa, Allyson K. Clelland, Judith E. Sleeman, Kinnear, Nicholas P., Sleeman, Judith Elizabeth, Burza, Julie   +9 more
core   +1 more source

Restoring Bcl-xL levels benefits a mouse model of spinal muscular atrophy

Neurobiology of Disease, 2008
Currently, no curative treatment is available for spinal muscular atrophy (SMA). Since the degeneration of spinal motor neurons in SMA is mediated by apoptosis, over-expression of an anti-apoptotic factor, Bcl-xL, may benefit SMA.
Li-Kai Tsai, Ming-Shiun Tsai, Chen-Hung Ting, Sue-Hong Wang, Hung Li   +4 more
doaj   +1 more source

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
core   +1 more source