Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Numerical Simulation of Spatial Distribution Characteristics of Hazardous Gas Clouds from Leakage at a Hydrogen-Blended Natural Gas Distribution Station. [PDF]
ACS OmegaWang D, Jin Z, Yu Q, Liang P.
europepmc +1 more source
Diabetes‐Associated Cognitive Impairment: Pathophysiology and Emerging Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Diabetes‐associated cognitive impairment (DACI) is a common yet underrecognized condition, manifesting along a spectrum from mild cognitive impairment to dementia. DACI encompasses patients who develop vascular dementia (VaD) or Alzheimer's disease (AD) with diabetes as a risk factor; however, in certain patients, particularly those lacking ...
Osman Corbali +4 more
wiley +1 more source
Shear-free, inhomogeneous turbulence in a stably stratified fluid. [PDF]
J Fluid MechHass R, Lele S.
europepmc +1 more source
Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay +15 more
wiley +1 more source
Computational heat transfer analysis of solar based energy systems via employment of numerical calculations and finite volume scheme. [PDF]
Sci RepMelaibari AA +2 more
europepmc +1 more source
Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad +22 more
wiley +1 more source
Study of Three-Phase Flow Field Characteristics in a Multi-Stage Friction-Shear Cavitating Waterjet for Flake Graphite Liberation. [PDF]
Materials (Basel)Dong X, Jiang Y, Peng D, Li J, Li D.
europepmc +1 more source
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 +7 more
wiley +1 more source