Advancements in Biomarker Identification Recent developments in the field of Alzheimer’s disease diagnostics have centered …
clinical symptoms
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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
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 …
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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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Functional neurological disorders
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2
by myneuronewsby myneuronewsBackground of Ataxia with Oculomotor Apraxia Type 2 Ataxia with oculomotor apraxia type 2 (AOA2) …
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Functional neurological disorders
Alterations of White Matter Functional Networks in Pediatric Drug-Resistant Temporal Lobe Epilepsy: A Graph Theory Analysis Study
by myneuronewsby myneuronewsAlterations in White Matter Networks The study of white matter networks in pediatric patients suffering …
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Functional neurological disorders
Aggressive and Refractory Attack of AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder Treated With Ravulizumab: A Case Report
by myneuronewsby myneuronewsClinical Presentation and Diagnosis In this case report, the patient presented with symptoms characteristic of …
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Traumatic brain injury
Neuroimaging Characterization of Acute Traumatic Brain Injury with Focus on Frontline Clinicians: Recommendations from the 2024 National Institute of Neurological Disorders and Stroke Traumatic Brain Injury Classification and Nomenclature Initiative Imaging Working Group
by myneuronewsby myneuronewsNeuroimaging Techniques in Traumatic Brain Injury Neuroimaging plays a crucial role in the assessment and …