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Neuroinflammation and neurodegeneration in Huntington’s disease: genetic hallmarks, role of metals and organophosphates
Neuroinflammation and neurodegeneration in Huntington’s disease: genetic hallmarks, role of metals and organophosphates
Huntington’s disease (HDs) is a fatal, autosomal dominant, and hereditary neurodegenerative disorder characterized b...
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties
Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phen...
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...
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...
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...
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 ...
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...
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...
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 ...
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 ...
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...
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum
Biallelic variants in SHMT2 cause neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (N...
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...
Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family
Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family
TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle traffi...
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges...
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...
The role of gut-derived short-chain fatty acids in Parkinson's disease
The role of gut-derived short-chain fatty acids in Parkinson's disease
The emerging function of short-chain fatty acids (SCFAs) in Parkinson's disease (PD) has been investigated in this art...
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)
The human genome, comprising millions of pairs of bases, serves as the blueprint of life, encoding instructions for cellul...
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.6...
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The a...
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with considerable genetic heterogeneity. The diso...
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance
Glioma, a type of brain tumor, poses significant challenges due to its heterogeneous nature and limited treatment options....
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin
The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic dis...
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant ...
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review
The debate surrounding nature versus nurture remains a central question in neuroscience, psychology, and in psychiatry, ho...
TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia
TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia
Our objective is to explore the protective effect of Dexmedetomidine on brain apoptosis and its mechanism through TREK-1 p...
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy
Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-R...
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