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
Virtual Meets Reality: A Psychodynamic Perspective on Immersive Technologies. [PDF]
Rossi C, Frisone F, Riva G, Oasi O.
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
Evaluating Children's Drawings as a Means of Expression in Children with Chronic Diseases. [PDF]
Manomenidis G +7 more
europepmc +1 more source
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
Clinical Profile and Psychosocial Correlates of Childhood Depressive Disorder: A Case-Control Study. [PDF]
Priyam P +3 more
europepmc +1 more source
Brazilian Consumer Attitude Towards the Concept of Meat Products with Claims of Naturalness, Healthiness and Sustainability. [PDF]
Rocha HC +4 more
europepmc +1 more source
Exploring unsupervised feature extraction algorithms: tackling high dimensionality in small datasets. [PDF]
Niu H +4 more
europepmc +1 more source
Hi MagicRing, tell me where I am: Toward affordable, physically reliable 3D plant phenotyping with MobilePheno3D. [PDF]
Zheng Y +9 more
europepmc +1 more source
Three-torsion subgroups and wild conductor exponents of plane quartics. [PDF]
Lupoian E, Rawson J.
europepmc +1 more source

