Publications by authors named "Ali Nikfar"
Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of, or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family.
View Article and Find Full Text PDFObjectives: After primary tissue damage as a result of spinal cord injury (SCI), there is a period of secondary damage, which includes several cellular and inflammatory biochemical cascades. As a novel pro-apoptotic kinase, (serine/threonine kinase 4) promotes programmed cell death in an inflammatory disease model. This study aimed to evaluate gene expression levels in rats with spinal cord injury treated with L- deprenyl.
View Article and Find Full Text PDFArticle Synopsis
- - Osteosclerotic metaphyseal dysplasia (OSMD) is a rare genetic disorder usually inherited in an autosomal-recessive pattern, primarily marked by issues like skeletal fractures, osteosclerosis, and occasionally developmental delays or seizures.
- - A 14-year-old Iranian girl from a consanguineous family exhibited severe symptoms of OSMD, including short stature and various bone deformities, prompting genetic analysis through whole-exome sequencing.
- - Researchers identified a novel mutation in the LRRK1 gene (c.G2785T, p.E929X), the first recorded in the Iranian population and only the third globally, indicating potential new clinical manifestations associated with OSMD.