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A recurrent c.953A>C (p. Gln318Pro) variant in causing congenital disorder of glycosylation in Turkish population
A recurrent c.953A>C (p. Gln318Pro) variant in causing congenital disorder of glycosylation in Turkish population
Congenital disorders of glycosylation type 1p, one of the N-glycosylation defects, Asparagine-dependent glycosylation 11 (...
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
Joubert syndrome (JS) is a rare autosomal recessive genetic disease characterized by molar tooth sign, hypotonia during in...
Zebrafish as a tool for autism research: unraveling the roles of , and in synaptic and behavioral abnormalities
Zebrafish as a tool for autism research: unraveling the roles of , and in synaptic and behavioral abnormalities
Autism Spectrum Disorder, a complex neurodevelopmental disorder, is manifested by deficits in social communication and res...
Phenotypic variability and preserved cognition in a family with related developmental epileptic encephalopathy
Phenotypic variability and preserved cognition in a family with related developmental epileptic encephalopathy
Developmental and epileptic encephalopathy type 32 (DEE32) is a severe neurological disorder caused by pathogenic variants...
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters
The rare recessive autosomal non-communicable disorder oculocutaneous albinism causes discoloration of the eye, hair, and ...
Identification of a de Novo gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
Identification of a de Novo gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay
Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently accompanied by developmental delay and...
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases that include more than 90 ge...
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
RASopathies are a wide group of multisystemic disorders caused by pathogenic variants in genes belonging to the RAS/MAPK p...
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile)
Moyamoya disease is a rare cerebrovascular disorder characterized by progressive internal carotid artery stenosis and comp...
Pro-inflammatory cytokine genetic variants show variable susceptibility to mild cognitive impairment, alzheimer’s disease and frontotemporal dementia in South India
Pro-inflammatory cytokine genetic variants show variable susceptibility to mild cognitive impairment, alzheimer’s disease and frontotemporal dementia in South India
Dementia is a general term for loss of memory, ling and other thinking abilities that are severe enough to interfere with ...
Association of R1628P variant with Parkinson’s disease in Kinh Vietnamese: a cross-sectional study
Association of R1628P variant with Parkinson’s disease in Kinh Vietnamese: a cross-sectional study
Parkinson’s disease (PD) is a complex disorder with contributions by environmental and genetic factors. LRRK2 R1628P...
A monoallelic 8q24.3-duplication involving a single protein encoding gene may be linked to a new leukodystrophy
A monoallelic 8q24.3-duplication involving a single protein encoding gene may be linked to a new leukodystrophy
TSNARE1 regulates the endolysosomal membrane trafficking in cortical neurons and its overexpression might be associated wi...
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases
Hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of neurodegenerative disorders ...
Computational association in parkinson’s disease SNPs with brain structural and functional alterations
Computational association in parkinson’s disease SNPs with brain structural and functional alterations
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder which seriously affects human healt...
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in
Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor an...
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family
Neurodegenerative disorders pose a significant public health problem. Among these, neurodegeneration with brain iron accum...
-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity
-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity
A 40-year-old man with adult-onset spastic-ataxia and tremor showed a leukoencephalopathy with a hypomyelinating pattern o...
Pathogenic variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome
Pathogenic variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome
Type 2 Long QT Syndrome (type 2 LQTS) is a cardiac channelopathy caused by pathogenic variants in the KCNH2 gene, often as...
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals
Schinzel-Giedion Syndrome (SGS) is a rare neurodevelopmental disorder caused by pathogenic SETBP1 gain-of-function variant...
Familial cerebral cavernous malformations caused by a novel germline structural variant in the gene
Familial cerebral cavernous malformations caused by a novel germline structural variant in the gene
The detection of complex structural variants in patients with familial cerebral cavernous malformations (FCCM) remains cha...
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...
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