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DHDDS-related epilepsy with hippocampal atrophy: a case report
DHDDS-related epilepsy with hippocampal atrophy: a case report
Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associat...
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine
The emerging field of epigenetics has been driving glioblastoma multiforme (GBM) development and progression. Various epig...
Analysis of Alzheimer’s disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods
Analysis of Alzheimer’s disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods
Alzheimer’s disease (AD) is a neurodegenerative disorder that is presented with a progressive loss of memory, a decl...
Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health
Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health
This review article investigates the intricate relationship between nutrigenomics and neurological disorders, highlighting...
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome
Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-relate...
Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation
Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation
We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage ...
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing
Leigh syndrome is a common mitochondrial disorder caused by gene mutations in the nucleus and mitochondria. When building ...
Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69
Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69
Some subtypes of hereditary spastic paraplegia (HSP), especially with autosomal recessive inheritance (AR-HSP), have been ...
Neurodegeneration with brain iron accumulation 5: report of three cases
Neurodegeneration with brain iron accumulation 5: report of three cases
Neurodegeneration with brain iron accumulation 5 (NBIA5) is a distinctive type of NBIA phenotype that is caused by mutatio...
Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases
Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases
To investigate the causal relationships between cerebrospinal fluid (CSF) metabolites and various neurodegenerative diseas...
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes mor...
Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia
Computational modeling design of novel NMDAR agonist for the treatment of Schizophrenia
Schizophrenia (SZ) is a complex, chronic mental disorder characterized by positive symptoms (such as delusions and halluci...
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss
Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, t...
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)
Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in...
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Sphingomyelin phosphodiesterase 4 (SMPD4) encodes a member of the Mg2+-dependent, neutral sphingomyelinase family that cat...
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Synaptotagmin-1 (SYT1) plays a pivotal role in regulating presynaptic processes, including neurotransmitter release. SYT1 ...
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been re...
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Myelin Disorders Clinic, Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Tehran ...
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Intellectual disability (ID), occurring in syndromic or non-syndromic forms, is the most common neurodevelopmental disorde...
Adult-onset Alexander disease among patients of Jewish Syrian descent
Adult-onset Alexander disease among patients of Jewish Syrian descent
Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrilla...
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully und...
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involv...
Clinical and functional study of two de novo variations of CDKL5 gene
Clinical and functional study of two de novo variations of CDKL5 gene
The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental...
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a fa...
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired adaptive beha...
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia (HSP) caused by calpain-1 (CAPN1) mutatio...
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nucle...
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
Intellectual disability (ID) affects 1–3% of the world population. The number of genes whose dysfunctions cause inte...
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
Primary familial brain calcification (PFBC; formerly Fahr’s disease) and early-onset Alzheimer’s disease (EOAD...
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