Clinical Presentation of Chediak-Higashi Syndrome Chediak-Higashi syndrome (CHS) is a rare genetic disorder characterized by …
Tag:
neurology
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Functional neurological disorders
A practical guide to assessing functional motor weakness: a review of validated techniques
by myneuronewsby myneuronewsUnderstanding Functional Motor Weakness Functional motor weakness (FMW) is a condition where individuals experience significant …
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Functional neurological disorders
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis
by myneuronewsby myneuronewsClinical Presentation and Symptoms Phosphoribosylformylglycinamidine synthase (PFAS) deficiency presents a complex array of clinical symptoms …
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Functional neurological disorders
Immune inflammatory regulation in Anti-NMDAR encephalitis: insights from transcriptome analysis
by myneuronewsby myneuronewsImmune Mechanisms in Anti-NMDAR Encephalitis Anti-NMDAR encephalitis is characterized by the presence of antibodies that …
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Functional neurological disorders
Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy
by myneuronewsby myneuronewsCytoplasmic Role of DDX11 in Autophagy Recent research has unveiled a novel cytoplasmic function of …
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Functional neurological disorders
Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology
by myneuronewsby myneuronewsNeurodevelopmental Variants and Penetrance Neurodevelopmental copy number variants (CNVs) represent significant alterations in an individual’s …
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Traumatic brain injury
Mild and moderate traumatic brain injury: Screening, documentation and referral to concussion services
by myneuronewsby myneuronewsUnderstanding Mild and Moderate Traumatic Brain Injury Mild and moderate traumatic brain injuries (TBIs) represent …
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Functional neurological disorders
Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology
by myneuronewsby myneuronewsUnderstanding Neurodevelopmental Copy Number Variants Neurodevelopmental copy number variants (CNVs) are structural alterations in the …
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Functional neurological disorders
Biochemical investigation of pathogenic missense mutations of human 4-amino butyrate aminotransferase towards the understanding of the molecular pathogenesis of GABA transaminase deficiency
by myneuronewsby myneuronewsBiochemical Characterization of Mutant 4-Aminobutyrate Aminotransferase In this detailed study, researchers focused on the biochemical …
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Functional neurological disorders
Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report
by myneuronewsby myneuronewsClinical Presentation and Symptoms The case of a patient with xeroderma pigmentosum (XP) confirmed the …