Mehran Beiraghi Toosi
A5019938091- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Pharmacological Effects and Toxicity Studies
- RNA Research and Splicing
- Neurological diseases and metabolism
- Congenital Anomalies and Fetal Surgery
- Epigenetics and DNA Methylation
- Cerebral Venous Sinus Thrombosis
- Neonatal and fetal brain pathology
- ATP Synthase and ATPases Research
- Cerebral Palsy and Movement Disorders
- Genetic Neurodegenerative Diseases
- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- Biochemical and Molecular Research
- Lysosomal Storage Disorders Research
- PARP inhibition in cancer therapy
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
Mashhad University of Medical Sciences
2015-2024
Ghaem Hospital
2014-2024
Shahid Kamyab Hospital
2022
Abstract We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum Aicardi–Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis normal neuroimaging, progressive dystonic motor disorder, adult-onset psychological difficulties intracranial calcification. Homozygous missense were recorded five families. observed p.Pro193Ala...
PurposeWe aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.MethodsWe performed detailed characterization of 19 individuals from nine unrelated, consanguineous families with disorder. We used genome/exome sequencing approaches, linkage cosegregation analyses disease-causing variants, we three-dimensional molecular in silico analysis predict causality variants where...
Insufficient amounts of survival motor neuron protein is leading to one the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before current study, detailed characteristics Iranian patients with SMA had not been determined.To describe key demographic, clinical, and genetic registered in Registry (IRSMA).IRSMA has established since 2018, were recorded according methods treat disease (TREAT-NMD) project.By October 1, 2022, 781 5q registered. Of them, 164 died, majority them...
Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme purine metabolism. We delineate the genotypic phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. investigated cohort 28 new patients reviewed previously described cases, providing comprehensive characterization 40 subjects. Exome sequencing was performed to...
PurposePathogenic autosomal recessive variants in CAD, encoding the multienzymatic protein initiating pyrimidine de novo biosynthesis, cause a severe inborn metabolic disorder treatable with dietary supplement of uridine. This condition is difficult to diagnose given large size CAD over 1000 missense and nonspecific clinical presentation. We aimed develop reliable discerning assay assess pathogenicity select affected individuals that might benefit from uridine therapy.MethodsUsing...
Abstract Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants most TRAPP complex subunits have found lead neurodevelopmental disorders with diverse but overlapping phenotypes. We expand on limited prior reports TRAPPC6B detailed clinical and neuroradiologic assessments, studies mechanisms of disease, new...
Background and purpose Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with wide spectrum phenotypes high rate genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 hypomyelinating leukodystrophy. Methods Using combination homozygosity mapping, exome sequencing, detailed clinical neuroimaging assessment series new multicentre setting is described. Then, all reported those identified this study combined an in‐depth...
In the field of rare diseases, progress in molecular diagnostics led to recognition that variants linked autosomal-dominant neurodegenerative diseases later onset can, context biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a disorder arising from TOR1A, gene heterozygous state associated with torsion dystonia-1 (DYT1 DYT-TOR1A), an early-onset dystonia...
Many neurologic manifestations of Epstein-Barr virus (EBV) infection have been documented, including encephalitis, aseptic meningitis, transverse myelitis, and Guillain-Barre syndrome. These can occur alone or coincidentally with the clinical picture infectious mononucleosis. EBV encephalitis is rare indicated as a wide range manifestations. We report 10-year-old girl presented fever, gait disturbance, bizarre behavior for one week. The results physical examination were unremarkable....
This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.We performed detailed clinical characterization 4 unrelated individuals from consanguineous families with disorder. We used exome sequencing or targeted-exome sequencing, cosegregation, in silico protein modeling, functional analyses variants HEK293 cells Drosophila melanogaster, as well...
Cerebral palsy (CP) is one of the most common causes serious physical disability in childhood and a persistent movement disorder before age three. This can negatively affect both child their family. In recent years, use melatonin as safe, effective, cheap drug has been expanding improving sleep disorders these children. Therefore, this study aimed to investigate melatonin's effect on children with CP.