The autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein. Molecular pathways that are disrupted downstream of SMN therefore represent potentially attractive therapeutic targets for SMA. Here, we demonstrate that therapeutic targeting of ubiquitin pathways disrupted as a consequence of SMN depletion, by increasing levels...

Dysfunction of the basal ganglia-thalamocortical motor circuit is a fundamental model to account for motor symptoms in Parkinson's disease (PD). Using high-frequency repetitive transcranial magnetic stimulation (rTMS) over the supplementary motor area (SMA), we investigated whether modulation of SMA excitability engenders therapeutic effects on motor symptoms in PD. In this double-blind placebo...

Low levels of survival of motor neuron (SMN) protein lead to spinal muscular atrophy (SMA). The major pathological hallmark of SMA is a loss of lower motor neurons from spinal cord and peripheral nerve. However, recent studies have revealed pathological changes in other cells and tissues of the neuromuscular system. Here, we demonstrate intrinsic, SMN-dependent defects in Schwann cells in SMA. ...

Spinal muscular atrophy (SMA), a motor neuron disease (MND) and one of the most common genetic causes of infant mortality, currently has no cure. Patients with SMA exhibit muscle weakness and hypotonia. Stem cell transplantation is a potential therapeutic strategy for SMA and other MNDs. In this study, we isolated spinal cord neural stem cells (NSCs) from mice expressing green fluorescent prote...

the pseudo-elastic behavior of shape memory alloy (sma) truss and cantilever beam are investigated. brinson’s one-dimensional material model, which uses the twinned and detwinned martensite fractions separately as internal variables, is applied in the algorithm to establish the sma stress-strain characteristics. this material model also incorporates different young’s modulus for austenitic and ...

BACKGROUND AND PURPOSE The purpose of this study was to assess supplementary motor area (SMA) activation during motor, sensory, word generation, listening comprehension, and working memory tasks by using functional MR imaging (fMRI). Human supplementary motor area (SMA) has been shown to play roles in motor control and other various functions such as sensory, speech expression, and memory. Howe...

Revascularization for acute mesenteric ischemia (AMI) can be achieved through a bypass from the aorta or iliac arteries, embolectomy, open exposure of SMA and retrograde recanalization and stent, or percutaneous antegrade stenting. Flush occlusion of the SMA can make antegrade recanalization very challenging and is usually unsuccessful. We present a novel approach for recanalization of superior...

During Caenorhabditis elegans development, the embryo acquires its vermiform shape due to changes in the shape of epithelial cells, a process that requires an apically localized actin cytoskeleton. We show that SMA-1, an ortholog of beta(H)-spectrin required for normal morphogenesis, localizes to the apical membrane of epithelial cells when these cells are rapidly elongating. In spc-1 alpha-spe...

OBJECTIVE To describe 12 yr experience of molecular genetic diagnosis of Spinal Muscular Atrophy (SMA) in 460 cases of Turkish patients. MATERIALS & METHODS A retrospective analysis was performed on data from 460 cases, referred to Medical Genetics Laboratory, Ege University's Hospital, Izmir, Turkey, prediagnosed as SMA or with family history of SMA between 2003 and 2014. The PCR-restriction...

This study comprises finite element simulations and experimental studies of the shape memory effect due to the presence of SMA (shape memory alloy) wires in composite materials. FEA was performed using ANSYS, where the prestrain was modelled by equivalent changes in the expansion coefficient of the SMA. Three case-studies were simulated and their predictions were compared with experimental data...