Results 191 to 200 of about 259,684 (266)
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay +13 more
wiley +1 more source
Unraveling links between lifestyle behaviors and depressive symptoms: a network analysis using NHANES 2007-2018 data. [PDF]
Yang F +5 more
europepmc +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Phylogenetic analysis of CIAV and pathogenies in embryo eggs. [PDF]
Xie Y +6 more
europepmc +1 more source
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Growth in children with biliary atresia before and after liver transplantation: a retrospective analysis. [PDF]
Wang Y, Zhang P, Qi J, Guo Y.
europepmc +1 more source
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Moderate temperature shifts elicit large-scale changes in the physiology and behavior of a green microalga. [PDF]
Bourgade B, Pivato M.
europepmc +1 more source
Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report. [PDF]
Azher Z +5 more
europepmc +1 more source
Genetic Syndromes Including Intellectual Disability and Different Cancer Types. [PDF]
Ünsel-Bolat G, Dutar E, Bolat H.
europepmc +1 more source

