Results 221 to 230 of about 7,721 (290)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesClin Neuropsychiatry
Rossi C, Frisone F, Riva G, Oasi O.
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesMed Arch
Manomenidis G   +7 more
europepmc   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Hi MagicRing, tell me where I am: Toward affordable, physically reliable 3D plant phenotyping with MobilePheno3D. [PDF]

open access: yesaBIOTECH
Zheng Y   +9 more
europepmc   +1 more source

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