Results 191 to 200 of about 1,684,356 (262)

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

Annals 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, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances. [PDF]

J Int Med Res
Tang J, Lv M, Zhang H, Qin M, Yan J, Zhang Y, He J.   +6 more
europepmc   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Evaluation of the Advantages of Silicone Stent in Revision Endoscopic Dacryocystorhinostomy in a Tertiary Care Hospital. [PDF]

Int Arch Otorhinolaryngol
Sonawane C, Raval RR, Bajaj A, Paike B, Patil T.   +4 more
europepmc   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

What's New in Wide-Awake Local Anesthesia No Tourniquet (WALANT) Hand Surgery? [PDF]

J Hand Surg Glob Online
Koehler SM, Ayhan E.
europepmc   +1 more source

Photoelectrochemical Immuno-Sensing via Plasmon-Induced Resonance Energy Transfer Mechanism. [PDF]

ECS Sens Plus
Bright J, Hang Y, Tan W, Wang A, Yang H, Wu N.   +5 more
europepmc   +1 more source

Correction: Endocrine advantages of PD-1/PD-L1 therapy: Comparative analysis of FAERS-JADER. [PDF]

PLoS One
Gao Y, Jiang S, Cui Y, Wang Y, Yu L.
europepmc   +1 more source

Advances in Arthroscopic Superior Capsular Reconstruction of the Shoulder: A Narrative Review. [PDF]

Orthop Rev (Pavia)
Xiong T, Zhang Z, Li Y, Wu Z, Zhao L.
europepmc   +1 more source