Comprehensive Overview of Mutations in Neurofibromatosis Type 1 Among Iranian Patients Neurofibromatosis type 1 (NF1) is a hereditary disease caused by mutations in the NF1 gene, characterized by almost complete penetrance and high phenotypic variability. This study aims to identify NF1 mutations in Iranian patients using whole-genome exome sequenc...

A New Differential Diagnosis Method Based on miRNA Background Introduction Neuromuscular Disorders (NMDs) are a class of chronic diseases that consistently progress to muscle atrophy. Although certain diseases such as Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Congenital Muscular Dystrophy (CMD), Limb-Girdle Muscular Dystro...

Research Report on the Effects of Naringin Intervention on Newborn Neurons and BDNF Levels in Rat Brain Ischemia-Reperfusion Model Background With the global increase in cardiovascular diseases, ischemic stroke has gradually become a major cause of death and disability, affecting the quality of life of millions of people. Despite continuous advance...

Differential Regulation of miR206 and miR423-3p in Rapidly and Slowly Progressing Amyotrophic Lateral Sclerosis Patients This article was published in the 2024 issue of “Neuromolecular Medicine,” titled “Differential Regulation of miR206 and 423-3p in Rapidly and Slowly Progressing Amyotrophic Lateral Sclerosis (ALS) Patients.” The authors include ...

A Study Exploring a New Mutation in Early-Onset Alzheimer’s Disease Alzheimer’s Disease (AD) is a common neurodegenerative disorder, accounting for 60-70% of all dementia cases. In recent years, with global population aging and environmental changes, the incidence of AD has been increasing annually. It is predicted that by 2050, the number of patie...

Study on the Improvement of Cognitive Function in ICV-STZ-Induced Alzheimer’s Disease Mouse Model by Lycium Barbarum Polysaccharides Research Background Alzheimer’s disease (AD) is the most common neurodegenerative disease of the central nervous system, characterized by progressive cognitive impairment, memory loss, personality changes, and emotion...

Neuromolecular Medical Research on Hereditary Leukodystrophy - A Research Report on the Discovery of a Novel ARSA Gene Mutation Research Background Hereditary leukodystrophies are a group of genetic disorders primarily affecting the white matter of the central nervous system. They encompass a wide range of conditions, mainly caused by enzyme defici...

Application of Quality Assurance in Future Advanced Sequencing Diagnostics Background Over the past decade, Next-Generation Sequencing (NGS) has made revolutionary progress in the diagnosis of Rare Neurological Diseases (RNDs). However, the lack of technical, interpretative, and reporting standards has posed challenges in ensuring consistent and hi...

Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...

Clinical Impact of Pharmacogenomic Testing on Antiplatelet Therapy Background Pharmacogenomics (PGx) is changing the use of P2Y12 inhibitors (antiplatelet drugs), which are widely used in the treatment of acute coronary syndrome (ACS), neurovascular problems, and vascular diseases. Among them, clopidogrel is a commonly used P2Y12 inhibitor. This pr...