دومین کنگره بین ‎‎المللی و دهمین همایش ملی نوروژنتیک ایران، اسفند ماه ۱۳۹۶

مقالات پذیرش شده در دومین کنگره بین ‎‎المللی و دهمین همایش ملی نوروژنتیک ایران

• Analysis the result of 74330 amniocentesis

• An Overview of the Human Genome

• Genetic epidemiology of rare autosomal recessive disorders investigated through consanguineous marriages: the Homozygosity Index approach

• Expression analysis of vitamin D signaling pathway genes in epileptic patients

• Typical vs atypical forms of Spinal Muscular Atrophy

• Therapeutic options in SMA: latest developments

• Bulbospinal syndromes

• Genetic basis of mitochondrial myopathies

• Clinical, Enzymatic, and Molecular Diagnosis of Mucopolysaccharidoses (MPSs) in Iran

• Update on Movement Disorders’ Genetics

• Approaches in Genetic testing in Autism: Applications of Copy Number Variation (CNV) analysis and Next generation Sequencing (NGS), in some Iranian Patients with Autism

• Approaches in Genetic testing in Autism: Applications of Copy Number Variation (CNV) analysis and Next generationSequencing (NGS), in some Iranian Patients with Autism

• Identification of common mutations on the NF-kB and its inhibitor gene promoters in patients with Multiple Sclerosis

• An introduction to clinical and diagnostic genetic management of neuromuscular disorders

• Whole exome sequencing in heritable white matter disorders in children

• Candidate genes involved in coffin-siris syndrome

• Occurrence of Congenital Anomalies in Iran: A Nationwide Report

• Genetic animal models of epilepsy: a unique resource for the investigation of novel treatment

• Genetics in epilepsy

• Genetic Of Multiple Sclerosis

• TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

• New paradigms in gene-based therapy for spinal muscular atrophy (SMA)

• Genetic Counseling Challenges in Interpretation of Next Generation Sequencing Results in Three Iranian Families

• The relationship between Neurogenetics and Music

• Assessing risk loci of Late-onset Alzheimer disease in Northwestern of Iran

• The controversial role of serotonin transporter gene (SLC6A4) in the autism spectrum disorders

• Platelet rich plasma promotes neuronal repair in a rat model of spinal cord injury

• S1PR1 gene polymorphism and IL-17 levels in Iranian Multiple Sclerosis patients treated with Fingolimod

• Role of microRNAs in HTLV-1 infection

• Genetic diagnosis of a child with regression and accumulation of metal in the brain

• Neurologic Cancers and Personalized Medicine

• Parkinson s disease and reliable biomarkers for early detection

• Association of HLA-DRB1*1501 allele with Multiple Sclerosis in North East and West of Iran

• Amyloid plaques and Alzheimer’s disease

• Synesthesia: The privilege of genetic mutations

• Supranuclear Gaze Palsy, Mechanism, Disorders and Case Report

• Autosomal Recessive Cerebellar Ataxia, NGS, Classification, Diagnosis Algorithm, 50 cases

• MTHFR 677C> T Polymorphism and Male Infertility Risk: A Meta-Analysis

• The effect of free radicals and silver nanoparticles on central nervous system cells

• The Associated of Promoter Polymorphism PRCKH 1425G/A Gene with Risk of Ischemic Stroke

• Expression of apoptosis-regulatory genes in the hippocampus of rat neonates born to mothers with diabetes

• A model for Brain tumor growth

• Genetic screening in two Iranian families with early-onset Alzheimer’s disease identified a novel PSEN1 mutation

• Analysis of two allelic HLA haplotypes in different ethnicities of Khuzestan Province

• Association of HLA-DQA1*0102, -DQB1*0602, -DRB5*01, -A*0301 haplotypes in different genders of Khuzestan

• Potentiating effects of Perovskia abrotanoides Karel. on pentobarbital-induced sleep

• A case study on Hereditary Pheochromocytoma and Paraganglioma, and Alzheimer’s disease

• Sorting nexin expression involved in endosomal trafficking is decreased in high EDSS of multiple sclerosis

• Dysregulated serum concentration of lipid fractions and its association with the risk of Parkinson s disease

• Genetic basis of Autism a neurogenetic complex disease

• Role of Glucocorticoid- receptor gene polymorphisms in multiple sclerosis pathogenesis

• Application of whole exome sequencing to Genetic Diagnosis in Families with Autosomal Recessive Non-syndromic Hearing Loss

• Therapeutic Effect of Transplanted Human Wharton’s Jelly Stem Cell-Derived Oligodendrocyte Progenitor Cells in an Animal Model of Multiple Sclerosis

• Genetic Linkage of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

• Distribution Analysis of two, three and four allelic HLA haplotypes in normal population of Khuzestan

• Effects of CB1 antagonist rimonabant on passive avoidance memory in harmaline induced tremor

• The association study of APOE Ɛ2 Ɛ3 Ɛ4, IL-6-572GC, IL6-174GC, ACE InsertionDeletion, and eNOS4b4a Polymorphisms in Iranian Stroke patients

• Association Study on SNPs of PPAP2B, ZC3HC1 and ADAMTS7 genes with Stroke and Myocardial infarction

• Intensive speech and language disorders treatment of hydrocephalic children - a case study

• Analysis of polymorphisms of paraoxonase, coagulation factor 13, platelet glycoprotein IIb, β2 adrenergic receptor and angiotensin II receptor genes in patients with stroke problem

• Association between mir-125a and mir-30c gene polymorphisms and ischemic stroke; a case control study

• The association of miR-221 rs113054794, miR-146a rs2910164 and miR-34a rs369892834 polymorphisms with stroke risk

• The association of AGT, PDE4D and IL10 gene polymorphisms and stroke risk

• Association of the miR-499 and miR-608 Polymorphisms With ischemic stroke in northeast Iranian Population

• Mortality of Congenital Diseases in Mashhad during 2012-2016

• Significant attenuation of specific activity of cytochrome C oxidase in brain of mouse model of Multiple Sclerosis disease

• A Review of Animal Models of Absence Epilepsy

• Epilepsy in Mental Retardation

• Implication of SCN1A rs2298771 and rs3812718 polymorphisms on anti-epileptic drug resistance among Iranian epileptic children

• Genetic basis of epilepsy

• Voltage gated channels mutation in epilepsy and the relation between them

• Role of nicotinic acetylcholine receptors and GABA receptors in epilepsy: a genetical and molecular review

• Role of the MTHFR C677T and 2572G> T polymorphisms in genetic susceptibility of migraine in Iranian population

• Association between polymorphisms of NOS2 and NOS3 genes and multiple sclerosis

• A Novel Mutation in the Choline Kinase Beta Gene in an Iranian Kindred

• Novel deletion mutation in GAA in Iranian glycogen storage disease type II patients

• Pompe disease: Genetics aspects of diagnosis and treatment

• The Identification of Nucleotide Variations in Mitochondrial tRNA of Serine, Asparagine, Aspartic acid, Cysteine and Tyrosine Genes in Non-Dystrophic Myotonia Patients

• Association study between ACE gene polymorphisms and migraine

• Associated SNPs with MS: Bioinformatics analysis of MS associated genes, long non-coding RNAs and their SNPs

• A Novel mutation of WNK1 gene causes hereditary sensory and autonomic neuropathy type II

• The genetic basis and gene therapy of duchenne muscular dystrophy (DMD)

• A Novel mutation of SMN1 Gene causes Spinal Muscular Atrophy type 1

• Duchenne Muscular Dystrophy (DMD): An updated review of common available therapies

• The study of relationship of rs1800872 polymorphism in IL-10 gene promoter in Iranian patients with coronary artery disease

• Distribution Analysis of HLA-DQA1*0102, -DQB1*0602, -DRB5*01, -A*0301 haplotypes in normal population of Khuzestan Province

• Evaluation of HLA class I & II frequency in MS patients from Khuzeatan province

• Protective effects of chamomile extract against harmaline induced essential tremor

• Continuous limb tremors can create due to del18

• The study of association between polymorphism Ser311Cys in DRD2 in patients with Schizophrenia reffred to a spechialized psychiatric hospital in Yazd

• Gene expression and methylation analysis on MBP, TCF4, EGR1 genes in the blood of patients with schizophrenia and its psychopathology, intelligence and cognitive impairments

• Mutation screening of KCNQ1 and KCNE1 genes in Iranian patients with Jervell and lange Nielsen syndrome

• Role of epigenetics factor (miRNA) in diagnose and treatment of depression

• Computational neurogenetics models: integration of gene regulatory networks and artificial neural networks

• VDR, CYP24A1, CYP27B1 gene expression analysis in schizophrenia patients

• Bioinformatic prediction of Long-Non Coding RNAs as Regulatory Candidates of ADRB2 Gene Expression

• Regulation of Gene Expression in Neural Stem Cell Differentiation and Self-Renewal

• The Study of association between Val158Met polymorphism in COMT gene and deleting polymorphism of Glutathione S-transferasesM1 gene in patient with Schizophrenia reffered to a specialized psychiatric hospital in Yazd

• Epigenetic reprogramming and regulation of neural cell fate using small molecules to cure neurological disorders: Is it possible

• Multiple Sclerosis and mitochondrial gene variation: A systematic review

• A Systematic review of vitamin D pathway genetic variation and Risk of Breast Cancer

• Blood assessment of the expression levels of matrix metalloproteinase 9 (MMP9) and its natural inhibitor, TIMP1 genes in Iranian schizophrenic patients

• Evaluation of CXCL8 gene expression in patients with bipolar disorder

• MicroRNAs mediate regulatory effects on cerebral ischemia process

• Molecular Analysis of SNP (rs16147) polymorphism of Neuropeptide Y gene in the autism spectrum disorders

• Gene editing as a new therapeutic era for SMA

• Neuroacanthocytisis from Iran- Report of Molecular and Clinical findings

• Investigation of association between coagulation factor v, factor II, methylenetetrahydrofolate reductase, tumor necrosis factor alpha and plasminogen activator inhibitor genetic variations and stroke: a case-control study in an Iranian population with high incidence rate of stroke

• Evaluation of in vitro toxicity of peptide (N-acetyl-Leu-Gly-Leu-COOH)-substituted-β- cyclodextrin derivative, a novel drug carrier, in PC-12 cells

• Relationship between COMT polymorphism and opioid addiction in zabol (Iran)

• Genotoxicity and cytotoxicity of mineral trioxide aggregate and calcium enriched mixture cements on L929 mouse fibroblast cells

• Myasthenia gravis and genetics

• Effect of lactation on hippocampal neuronal density after global ischemia

• Genetic landscape of non-syndromic intellectual disability

• Novel mechanisms mediated by FMRP in Fragile X syndrome (FXS)

• A novel candidate gene, SNRK, causes Bardet-Biedl Syndrome in an Iranian Family

• Case Report: Limb-girdle Muscular Dystrophy with New Mutation in SGCB gene

• Hydroalcoholic extract of Anchusa italica injection protects against global cerebral ischemia– reperfusion injury via nitric oxide mechanism in rats

• Whole Exome Sequencing reveals de novo mutations in POGZ and KMT2D genes of Iranian individuals with NDD

• The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene two boy with autismin an Iranian family

• The Study of Inbreeding Levels of 3 and 4 in Infertile Couples and Their Parents

• Molecular mechanism and affected gene by omega 3 fatty acids in migraine headache

• Genetic basis of Type I Interferon excessive production in Neuropsychiatric Systemic Lupus Erythematosus

• Next Generation Sequencing Diagnosis in Neurological Disorders

• Spinal-Muscular Atrophy gene therapy: From ASOs to CRISPR/Cas9

• Production of CRISPR/Cas9 based gene editing vector in order to correction of dystrophin gene

• Correlation of miR-622 downregulation with development of multiple sclerosis

• microRNA- based Novel Therapeutic Approach in Epilepsy

• CRISPR in neuroscience and neurology

• MicroRNA Therapeutics in Multiple Sclerosis: New Era of Myelin Repair Drugs

• Stem Cell therapy and Gene therapy as new therapeutic platforms for Alzheimer therapy

• Exosome and spinal cord injury

• A Study on Role of Neurogenetics in NBIC Convergent Technologies Network

• The Effect and Therapeutic Potential Role of microRNAs in Alzheimer’s Disease

• In silico characterization and analysis of transcriptional inhibition of PDGF in glioblastoma tumor cells by CRISPR-C13a technique

• In silico characterization and analysis of transcriptional inhibition of EGFR in childhood brain stem glioma tumor cells by CRISPR-C13a technique

• Viral gene therapy in Parkinson’s disease

• The combined effects of ω-3 fatty acids and Nano-curcumin supplementation on Vascular Molecule-1 (VCAM-1) gene expression and serum level in migraine patients

• Cloning the coding region of ODNaTx8 gene from Odonthobuthus doriae in E. coli

• Aequorin mutations Asn 28 and Lys 30 enhance Ca2+ capture activity - A possibility for neurodegenerative disease treatment

• Potential therapeutic application of CRISPR-Cas9 in Huntington s disease

• Assessment of miRNA Expression data from human postmortem putamen samples in Parkinson’s disease

• New approaches to treatment in Glioblastoma multiform

• Precise Correction of Disease Mutations: an Emerging therapy in Limb Girdle Muscular Dystrophy

• Expression of motor neuron markers in endometrial stem cell derived neurons differentiated with purmorphamin small molecule

• Detection of PANK2 Gene Mutation in PKAN: A Case Report

• Neurotoxicity and Breast Cancer Therapy

• The relationship between hypermethylation of BAX gene and gastric carcinoma

• Current Developments in Stem Cell Therapy for Amyotrophic Lateral Sclerosis

• An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population

• Detection of PLEKHG2 Mutation in Microcephaly: A Case Report

• Detection of GAN gene Mutation in Leukodystrophy: A Case Report

• Cytokine profile in autistic patients

• Ataxia-Telangiectasia with novel splice site mutation in the ATM gene

• Neurogenetic and Maternal Occupational Exposures

• Maternal Pesticide Exposure and Neural Tube Defects: A systematic review

• A case of Frank-Ter Haar syndrome with a c.127C> T (p.Arg43Trp) mutation in SH3PXD2B gene

• The Role of Acupuncture in Treatment of Cerebral Palsy: A systematic review

• Vitamin D status in children with cerebral palsy: A systematic review

• Childhood leukodystrophies

• Microcephaly in private and university hospitals

• Radical mastectomy and neuropathy complications

• Neural Cell Reprogramming as a Novel Genomic Strategy to Treat Neurological Disorders

• In silico studies of rs1799971 (A118G) OPRM1 gene structural variant binding to morphine as an opioid addiction substrate

• Association and In Silico studies of OPRM1 gene missense variant A118G among addicted individuals undergoing methadone treatment in a northern Iranian population

• Relationship between genetic factors and obesity

• The Study of Genetic Counseling for Pregnant Women

• A case of young man with chorea-acanthocytosis

• Identification of a novel mutation in BBS2 gene in a patient with Bardet-Biedl syndrome

• Neurofibromatosis and Breast cancer

• Cowden Syndrome and Breast cancer

• Detection of new pathogenic mutation on MFRP gene associated with posterior microphthalmos (PM), retinitis pigmentosa (RP) and optic nerve head (ONH) drusen

• A Clinical and molecular Genetic study of 50 families with Parkinson Disease (PD) In Iran

• The study of miR-202-3p gene expression in Multiple Sclerosis patients

• Autoimmune Hepatitis in a person with HTLV-1 seropositivity: A rare coincident

• Induced pluripotent stem cells as a neurogenetic tool for treatment of neurological diseases

• Gene Therapy in Duchenne Muscular Dystrophy

• Multiple sclerosis during pregnancy and maternal, fetal, neonatal outcomes: A systematic review study

• Identification of a novel mutation in ARSA gene in patients with metachromatic leukodystrophy disorder

• MiRNAs profiling as diagnostic biomarkers for epilepsy