Results 231 to 240 of about 3,580,002 (295)

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

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

open access: yesAnnals 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

Forearm Nonunion and Segmental Bone Defects: A Focused Review of Masquelet Reconstruction and Free Vascularized Bone Grafting. [PDF]

open access: yesOrthop Res Rev
Saad R   +8 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

open access: yesAnnals 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   +7 more
wiley   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl   +6 more
wiley   +1 more source

Inebilizumab in AQP4‐Seropositive NMOSD: One‐Year Follow‐Up From a Multicenter, Real‐World Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Real‐world evidence on inebilizumab among neuromyelitis optica spectrum disorder (NMOSD) patients is lacking. This study assessed inebilizumab among Chinese patients with aquaporin 4 autoantibody (AQP4‐IgG)‐seropositive NMOSD in a real‐world setting.
Mengcui Gui   +10 more
wiley   +1 more source

The evolution of robotic-assisted thoracic surgery: current platforms, emerging technologies, and future perspectives - a narrative review. [PDF]

open access: yesJ Robot Surg
Kuzmych K   +9 more
europepmc   +1 more source

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