Therapeutic developments in spinal muscular atrophy.

Drawing Word co-occurrence map of Spinal Muscular Atrophy disease

Introduction:  The purpose of this article is to evaluate the status of articles in the field of Spinal Muscular Atrophy According to the Scientometrics indices Word co-occurrence map of this field . Methods: The present study is an applied one with a quantitative approach and a descriptive approach. It has been done using scientometrics and the co-occurrence words analysis technique. Document...

Spinal Muscular Atrophy: A Short Review Article

Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

Assessment of Preimplantation Genetic Diagnosis (PGD) for Childhood-onset Spinal Muscular Atrophy (SMA) Using Duplex Fluorescent PCR

Splicing therapeutics in SMN2 and APOB.

Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based compounds that target key elements in the pre-mRNA to control splicing in the nucleus. In this review, recent developments in splicing therapeutics for...

A Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report

Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...