Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.

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...

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

O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...

Transcriptional Profile of Muscle following Acute Induction of Symptoms in a Mouse Model of Kennedy's Disease/Spinobulbar Muscular Atrophy

BACKGROUND Kennedy's disease/Spinobulbar muscular atrophy (KD/SBMA) is a degenerative neuromuscular disease affecting males. This disease is caused by polyglutamine expansion mutations of the androgen receptor (AR) gene. Although KD/SBMA has been traditionally considered a motor neuron disease, emerging evidence points to a central etiological role of muscle. We previously reported a microarray...

امیوتروفیک لترال اسکلروزیس یا بیماری کندی: گزارش یک مورد بیماری

    Kennedy's Disease (KD) Bulbar and spinal muscular atrophy (BSMA) is an adult onset, X-linked, recessive disorder caused by expansion of a polymorphic CAG tandem repeat. Because Kennedy’s clinical symptoms overlap with some other neuromuscular disorders such as amyotrophic lateral sclerosis (ALS) or spinal muscular atrophies, KD sometimes is misdiagnosed or left unnoticed. Here we describe a...