Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder, characterized by the degeneration of motor neurons of the spinal cord, thus leading to the deaths of newborns. More than 95% of SMA patients are caused by the absence of survival motor neuron 1 (SMN1) gene exon 7, located on chromosome 5q13. The SMA disease prevalence and SMA mutations in Thailand have never been reported...

this study presents a new approach to control the nonlinear dynamics of an adaptive absorber using shape memory alloy (sma) element. shape memory alloys are classified as smart materials that can remember their original shape after deformation. stress and temperature-induced phase transformations are two typical behaviors of shape memory alloys. changing the stiffness associated with phase tran...

BACKGROUND Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25-50) as well as the severity of that genetic disease. Large studies are needed to determine the feasibility, benefits, and costs of such a program....

Spinal muscular atrophy (SMA) is a frequent neuromuscular disorder caused by motoneuronal apoptosis, as a result of SMN (Survival Motor Neuron) protein deficiency. Although the SMA determining gene was identified, the molecular mechanism of the disease is not clearly understood, due to the heterogeneity of clinical manifestations. Trying to complete the molecular describing SMA picture, by iden...

Notch signaling regulates smooth muscle cell phenotype and is critical for vascular development. One Notch target is smooth muscle alpha-actin (SMA), a differentiated smooth muscle cell marker. The Notch intracellular domain (NotchICD) forms a complex with CBF-1 (C-promoter-binding factor-1) and directly induces SMA expression. Using primary human smooth muscle cells, we show that expression of...

OBJECTIVE This study, which aimed to confirm or invalidate the somatotopic organization of the supplementary motor area (SMA), correlates the pattern of clinical symptoms observed after SMA removal with the extent of resection. METHODS Eleven patients with medial precentral glioma underwent partial or complete tumoral resection of the SMA. Seven patients underwent preoperative functional magn...

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to muscular paralysis with muscular atrophy. No effective treatment of this disorder is presently available. Studies of the correlation between disease severity and the amount of survival motor neuron (SMN) protein have shown an inverse relationshi...

Proximal spinal muscular atrophy (SMA) is an early onset, autosomal recessive motor neuron disease caused by loss of or mutation in SMN1 (survival motor neuron 1). Despite understanding the genetic basis underlying this disease, it is still not known why motor neurons (MNs) are selectively affected by the loss of the ubiquitously expressed SMN protein. Using a mouse embryonic stem cell (mESC) m...

Guaranteeing the use of Shape Memory Alloys (SMA) in mitigation of extreme load effects requires a deep study of the SMA behavior according to the specific requirements of the applications in damping. The damper was defined according the expected requirements (length of SMA and number of SMA wires). It is applied to two types of alloys (CuAlBe and NiTi) in the diagonals of a realistic steel por...