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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...
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a sev...
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscle diseases cause...
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis
Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis
Multiple sclerosis (MS), an intricate neurological disorder, continues to challenge our understanding of the pivotal inter...
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
Primary microcephaly is a rare neurogenic and genetically heterogeneous disorder characterized by significant brain size r...
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral nervous system. The genetic diagn...
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
Aminoacyl-tRNA synthetases (ARSs) aminoacylate tRNA molecules with their cognate amino acid, enabling information transmis...
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
Developmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnorm...
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised...
The Apo gene's genetic variants: hidden role in Asian vascular risk
The Apo gene's genetic variants: hidden role in Asian vascular risk
Vascular risk factors, including diabetes, hypertension, hyperlipidemia, and obesity, pose significant health threats with...
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation
We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with fro...
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mu...
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~&...
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Twin and family studies have established the genetic contribution to idiopathic generalized epilepsy (IGE). The genetic ar...
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Epilepsy is a complex genetic disorder that affects about 2% of the global population. Although the frequency and severity...
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper mo...
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and mot...
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders...
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC...
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
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