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Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome
Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome
Inflammatory cerebral amyloid angiopathy (CAA-RI) is a variant of CAA, rarely seen in young individuals with Down syndrome...
A novel homozygous in-frame deletion variant in causing Galloway-Mowat syndrome 5
A novel homozygous in-frame deletion variant in causing Galloway-Mowat syndrome 5
Biallelic variants in TPRKB (TP53RK-binding protein) are known to cause Galloway–Mowat syndrome 5 (MIM#617731). It i...
Gene therapy for huntington’s disease: advances, challenges, and future perspectives
Gene therapy for huntington’s disease: advances, challenges, and future perspectives
An abnormal amplification of the CAG trinucleotide repeat in the huntingtin (HTT) gene causes Huntington’s disease (...
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15
Hypomyelinating leukodystrophy 15 (HLD15) results from biallelic pathogenic variants in EPRS1, but exonic deletions have n...
-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion
-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion
Heterozygous EIF2AK2 variants reportedly cause leukoencephalopathy, developmental delay, and episodic neurologic regressio...
Association of TRPM7 gene mutation with familial vestibular migraine
Association of TRPM7 gene mutation with familial vestibular migraine
Vestibular migraine (VM) is a common neurological disorder characterized by headache and vestibular symptoms, with its gen...
Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F
Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4F (CMT4F) is a rare hereditary sensorimotor neuropathy, linked to the periaxin (PRX) gen...
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Biallelic hypomorphic variants in PRORP cause the rare autosomal recessive disorder combined oxidative phosphorylation def...
Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance
Targeting ABC transporters in glioma: farnesiferols as potent agents against chemotherapy resistance
Gliomas are the most prevalent primary brain tumors in the central nervous system. ABC transporters have been identified a...
-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature
-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature
The OTUD5 gene (OMIM #300713), located on Xp11.23, encodes the ovarian tumor deubiquitinase 5, a deubiquitinase enzyme wit...
Aberrant RNA splicing caused by variant in identified in a patient with pharmacoresistant epilepsy
Aberrant RNA splicing caused by variant in identified in a patient with pharmacoresistant epilepsy
Familial focal epilepsy with variable foci-1 (FFEVF1) is an autosomal dominant form of epilepsy. The phenotypic spectrum o...
Thorough evaluation of a novel splice variant in a female patient with -related intellectual disability
Thorough evaluation of a novel splice variant in a female patient with -related intellectual disability
Mediator complex subunit 12 (MED12) functions as a member of a multiprotein complex to regulate the fundamental process of...
Associated Neurodegeneration (PLAN): similar variant, divergent phenotype
Associated Neurodegeneration (PLAN): similar variant, divergent phenotype
PLA2G6-associated neurodegeneration (PLAN) is a rare autosomal recessive disorder with broad clinical spectrum, encompassi...
Expanding mutational and phenotypic spectrum of -related leukoencephalopathy: a novel family and literature review
Expanding mutational and phenotypic spectrum of -related leukoencephalopathy: a novel family and literature review
CST3-related leukoencephalopathy is a recently recognized adult-onset neurodegenerative disorder caused by pathogenic CST3...
Inhibition of phosphatase and tensin homolog induces chemical long-term potentiation in the dentate gyrus of hippocampus
Inhibition of phosphatase and tensin homolog induces chemical long-term potentiation in the dentate gyrus of hippocampus
Phosphatase and Tensin Homolog (PTEN) is a tumor suppressor gene that regulates cell growth, proliferation, and survival. ...
Neuroepigenetic regulation by long non-coding RNAs in sepsis-associated encephalopathy: cell-type programs and translational biomarkers
Neuroepigenetic regulation by long non-coding RNAs in sepsis-associated encephalopathy: cell-type programs and translational biomarkers
Sepsis-associated encephalopathy (SAE) is a frequent complication of sepsis in which systemic inflammation precipitates ce...
Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype–phenotype spectrum
Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype–phenotype spectrum
Pathogenic variants in NOTCH3 are the main genetic cause of CADASIL, classically through disruption of cysteine residues w...
Adult-onset -related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness
Adult-onset -related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness
Congenital myasthenic syndromes (CMS) are genetically heterogeneous disorders in which precise molecular diagnosis is esse...
Cerebrotendinous xanthomatosis in Slovak patients – experience with clinical manifestations and diagnostic approaches
Cerebrotendinous xanthomatosis in Slovak patients – experience with clinical manifestations and diagnostic approaches
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic va...
Astaxanthin protects human astrocytes (HA) against 6-hydroxydopamine-induced oxidative toxicity
Astaxanthin protects human astrocytes (HA) against 6-hydroxydopamine-induced oxidative toxicity
6-Hydroxydopamine (6-OHDA) induces dopaminergic degeneration via oxidative stress. Astaxanthin (AST), a potent antioxidant...
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...
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...
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 ...
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