Results 171 to 180 of about 185,257 (294)

An Educational Evaluation of Medical Students' Attitudes Towards Intellectual Disability. [PDF]

open access: yesClin Teach
Donaldson M   +6 more
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins   +104 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

open access: yesAnnals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai   +21 more
wiley   +1 more source

COVID-19 Vaccination and Health Outcomes Among Adults With an Intellectual Disability in British Columbia, Canada. [PDF]

open access: yesJ Intellect Disabil Res
Ye X   +10 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Nanomaterial‐Mediated Near‐Infrared Photothermal Neuromodulation for Neurologic Disorders

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review summarizes how near‐infrared light activates photothermal nanomaterials to enable noninvasive neuromodulation with high spatiotemporal precision. It elucidates the underlying mechanisms, explores targeted therapeutic applications for neurological disorders, discusses integration with optogenetics and biosensors, and addresses future ...
Ting‐Ting Zeng   +9 more
wiley   +1 more source

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