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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...
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...
 >  (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...
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 ...
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...
Multi-target approach to Alzheimer’s disease prevention and treatment: antioxidant, anti-inflammatory, and amyloid- modulating mechanisms
Multi-target approach to Alzheimer’s disease prevention and treatment: antioxidant, anti-inflammatory, and amyloid- modulating mechanisms
Alzheimer’s disease (AD) is characterized by amyloid-β (Aβ) plaque accumulation, neurofibrillary tangles, ...
The association of polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis
The association of polymorphisms with epilepsy and drug resistance: a systematic review and meta-analysis
Epilepsy is one of the most common neurological afflictions worldwide, with one-third of patients exhibiting resistance to...
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024
Hereditary neurological disorders (HNDs) are a group of heterogeneous disorders characterized by significant genetic and c...
A novel variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome
A novel variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated d...
Genetic variants associated with idiopathic Parkinson’s disease in Latin America: A systematic review
Genetic variants associated with idiopathic Parkinson’s disease in Latin America: A systematic review
Idiopathic Parkinson’s disease (PD) constitutes a complex trait influenced by genetic, environmental, and lifestyle ...
Identification of mutations in five Pakistani families with Epilepsy
Identification of mutations in five Pakistani families with Epilepsy
Epilepsy is a group of neurological conditions characterized by epileptic seizures, which are episodes that may vary from ...
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...
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation ac...
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...
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...
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...
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 ...
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...
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 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...
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 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...
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...
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...
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