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polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)
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...
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...
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...
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular funct...
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders
The molecular mechanism of nitric oxide in memory consolidation and its role in the pathogenesis of memory-related disorders
Memory is a dynamic process of encoding, storing, and retrieving information. It includes sensory, short-term, and long-te...
Genetic and expressional insights into the association of variants with neurodevelopmental disorders
Genetic and expressional insights into the association of variants with neurodevelopmental disorders
Cite this articleWang, PY., Liu, WH., Gu, YJ. et al. Genetic and expressional insights into the association of TRAPPC10 va...
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer’s disease
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer’s disease
Alzheimer’s disease (AD) is a slow brain degeneration disorder in which the accumulation of beta-amyloid precursor p...
 >  (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report
 >  (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report
Epilepsy is among the most prevalent serious neurological disorders, affecting over 70 million people worldwide, in Algeri...
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic variant and no Gaucher disease symptoms
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic variant and no Gaucher disease symptoms
Parkinson's disease (PD) is a multifaceted neurodegenerative disorder with both non-motor and motor symptoms. Variants...
20 years of related horizontal gaze palsy with progressive scoliosis: a mini-review
20 years of related horizontal gaze palsy with progressive scoliosis: a mini-review
ROBO3 is a member of the Roundabout (ROBO) gene family of evolutionarily conserved guidance receptors, which plays crucial...
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses
The SMARCB1 gene codes for a key element of the SWI/SNF chromatin-modifying complex, which plays a vital role in controlli...
Axonal motor polyneuropathy in a 13 years old Girl with a variant in
Axonal motor polyneuropathy in a 13 years old Girl with a variant in
ADNP-Related Disorder [previously known as Helsmoortel-Van der Aa syndrome (HVDAS)] is a rare genetic condition resulting ...
The fourth family in the world with a novel variant in the gene: four siblings with complex V (ATP synthase) deficiency
The fourth family in the world with a novel variant in the gene: four siblings with complex V (ATP synthase) deficiency
Mitochondrial Complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is a progressive neurodegenerative disorder char...
Investigating the gut microbiome in schizophrenia cases versus controls: South Africa’s version
Investigating the gut microbiome in schizophrenia cases versus controls: South Africa’s version
Schizophrenia (SCZ) is a chronic and severe mental disorder with a complex molecular aetiology. Emerging evidence indicate...
Genotypic and clinical phenotypic analysis of gene mutations
Genotypic and clinical phenotypic analysis of gene mutations
Mutations in the DEPDC5 gene are inherited in an autosomal dominant manner and can lead to various clinical phenotypes, in...
Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in
Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in
We describe a unique patient who had been diagnosed with inflammatory demyelinating polyneuropathy (CIDP) for 13 years wit...
Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up
Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up
Mutations in mitochondrial DNA play a crucial role in several diseases, but interpreting the clinical significance of mito...
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...
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...
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...
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...
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...
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...
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...
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...
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....
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...
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