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Neurological manifestations and risk factors associated with poor prognosis in hospitalized children with Omicron variant infection
There are increasing reports of neurological manifestation in children with coronavirus disease 2019 (COVID-19). However, the frequency and clinical...
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Brain magnetic resonance imaging findings in children with neurological complications of coronavirus disease 2019 (Omicron variant): a multicenter retrospective observational study
BackgroundAn increasing rate of encephalopathy associated with coronavirus disease 2019 (COVID-19) has been observed among children. However, the...
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Neurological symptoms in adults with Gaucher disease: a systematic review
IntroductionGaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological signs and symptoms....
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How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years
BackgroundFabry disease is an inherited metabolic disorder with various symptoms. Neurological manifestations are small fiber neuropathy, cerebral...
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Neurological disorders associated with COVID-19 in Sri Lanka
BackgroundNeurological manifestations of SARS-CoV-2 infection have been reported from many countries around the world, including the South Asian...
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A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
BackgroundAdenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common...
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Genetic etiology of progressive pediatric neurological disorders
BackgroundThe aim of the study was to characterize molecular diagnoses in patients with childhood-onset progressive neurological disorders of...
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Deep neurological phenoty** in oculo-dento-digital syndrome
ObjectivesOculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great...
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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures...
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Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant
BackgroundNiemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to...
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Neurofilaments as biomarkers in neurological disorders — towards clinical application
Neurofilament proteins have been validated as specific body fluid biomarkers of neuro-axonal injury. The advent of highly sensitive analytical...
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Rare genetic brain disorders with overlap** neurological and psychiatric phenotypes
Understanding rare genetic brain disorders with overlap** neurological and psychiatric phenotypes is of increasing importance given the potential...
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TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy
TMEM106B is a risk modifier of multiple neurological conditions, where a single coding variant and multiple non-coding SNPs influence the balance...
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Inflammasomes in neurological disorders — mechanisms and therapeutic potential
Inflammasomes are molecular scaffolds that are activated by damage-associated and pathogen-associated molecular patterns and form a key element of...
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CACNA1A variant associated with generalized dystonia
IntroductionCACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and...
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Causal relationship between coffee intake and neurological diseases: a Mendelian randomization study
BackgroundPrevious observational studies focused on the association of coffee consumption and neurological disease. However, it is not known whether...
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Children with severe neurological symptoms associated with SARS-CoV-2 infection during Omicron pandemic in China
BackgroundTo analyze the clinical characteristics and outcomes of children with severe neurological symptoms associated with the severe acute...
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Neurological Complications Following COVID-19 Vaccination
Purpose of ReviewA variety of neurological complications have been reported following the widespread use of the COVID-19 vaccines which may lead to...
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Neurological involvement in hematopoietic stem cell transplantation-associated thrombotic microangiopathy
Transplantation-associated thrombotic microangiopathy (TA-TMA) is a well-recognized serious complication of hematopoietic stem cell transplantation...
