how to cite this article: rashnonejad a, onay h, atik t, atan sahin o, gokben s, tekgul h, ozkinay f. molecular genetic analysis of survival motor neuron gene in 460 turkish cases with suspicious spinal muscular atrophy disease. iran j child neurol. autumn 2016; 10(4):30-35. abstract objective to describe 12 yr experience of molecular genetic diagnosis of spinal muscular atrophy (sma) in 460 ca...

abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...

Spinal muscular atrophy (SMA) is a devastating motor neuron disease caused by mutations of the survival motor neuron 1 (SMN1) gene. SMN2, a paralogous gene to SMN1, can partially compensate for the loss of SMN1. On the basis of age at onset, highest motor function and SMN2 copy numbers, childhood-onset SMA can be divided into three types (SMA I-III). An inverse correlation was observed between ...

This report presents the comparative life cycle assessment (LCA) between warm stone mastic asphalt (SMA) and conventional SMA. Specifically, the study evaluated and compared the life cycle environmental and economic performances of two mixtures: a warm SMA binder course mixture with a chemical additive and a control hot SMA binder course mixture. Both of these mixtures were utilized as part of ...

Pro-fibrotic microenvironments of scars and tumors characterized by increased stiffness stimulate mesenchymal stromal cells (MSCs) to express α-smooth muscle actin (α-SMA). We investigated whether incorporation of α-SMA into contractile stress fibers regulates human MSC fate. Sorted α-SMA-positive MSCs exhibited high contractile activity, low clonogenicity, and differentiation potential limited...

This paper addresses the experimental identification of a servo actuator which is used in many industrial applications. Because the system consisted of electrical and mechanical components, the behavior of the system was nonlinear. In addition, the under load behavior of this servo was different. The load torque was considered as the input and a two input-one output model was presented for t...

RÉSUMÉ. Dans cet article, nous présentons une approche de modélisation et conception d’agents et de systèmes multi-agents (SMA). Elle s’appuie sur la proposition d’un modèle générique de SMA et d’un modèle hybride d’implémentation supportant les caractéristiques du paradigme agent. Ce modèle hybride offre des avantages intrinsèques de manipulation et d’interrogation des systèmes modélisés. Nous...

The observed pattern of lepton mixing does not give an evidence of the seesaw. It is easier to disprove seesaw showing that one of the alternatives gives dominant contribution to the neutrino mass. We consider alternative mechanisms based on (i) small (tree level) effective couplings, (ii) small VEV, (iii) radiative generation of masses, (iv) protection by SUSY breaking scale or by µ-term, (v) ...

We study the matter enhancement of T violation in neutrino oscillation with three generations. The magnitude of T violation is proportional to Jarlskog factor J . Recently, the elegant relation, (∆m)12(∆m)23(∆m)31Jm = ∆12∆23∆31J , is derived, where ∆ij = ∆m 2 ij/(2E) and the subscript m denotes the quantities in matter. Using this relation, we reconsider how Jm changes as the function of the ma...