Results 141 to 150 of about 212,137 (199)

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge   +9 more
wiley   +1 more source

One‐ and Two‐Dimensional Polymorphism in a Hydrogen‐Bonding Bis‐Ureido‐Squaramide

open access: yesAngewandte Chemie, EarlyView.
A bis‐ureido‐squaramide (USq) is reported to exhibit supramolecular polymorphism driven by hydrogen bonding and π‐stacking interactions. In chloroform solution, the compound exists as a folded monomer that converts into a 2D supramolecular polymer upon increasing concentration.
Inés Capilla   +4 more
wiley   +2 more sources

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

Cost-Utility Analysis of TAVI Versus Surgery in Low-Risk Patients with Severe Aortic Stenosis in the UK. [PDF]

open access: yesAppl Health Econ Health Policy
Curzen N   +7 more
europepmc   +1 more source

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