Results 161 to 170 of about 378,550 (296)

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif   +17 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Paediatric Anaesthesia

open access: yesSurvey of Anesthesiology, 1960
openaire   +2 more sources

Ampicillin in Paediatrics [PDF]

open access: yesArchives of Disease in Childhood, 1964
R B, ELLIOTT, E J, STOKES, G M, MAXWELL
openaire   +2 more sources

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

Characteristics and Outcomes of Paediatric Renal Cell Carcinoma in Hong Kong

open access: yes, 2013
Purpose/Objective We reviewed the characteristics and outcomes of renal cell carcinoma (RCC) in children in Hong Kong. Materials and Methods All paediatric cancers diagnosed including RCC in Hong Kong have been prospectively collected by the ...
Chan, WYK   +5 more
core  

Unusual [<sup>18</sup>F]FDOPA PET-CT maging of insulinomas in children. [PDF]

open access: yesEJNMMI Rep
Auckburally SH   +6 more
europepmc   +1 more source

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