Results 161 to 170 of about 1,051,028 (293)

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

open access: yesMovement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade   +8 more
wiley   +1 more source

Agenesis of the corpus callosum

open access: yesJournal of Pediatric Neurosciences, 2010
Singh, Sangram, Garge, Saurabh
openaire   +3 more sources

Relationship Between Mean Kärger Model Water Exchange Rate and Intercellular Water Transition Rate

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To derive a quantitative relationship between the mean Kärger model (KM) water exchange rate and the mean intercellular water transition rate applicable to brain and other complex biological tissues. Theory and Methods The mean KM water exchange rate applies to any KM, accommodates an arbitrary number of compartments, and can be ...
Jens H. Jensen   +3 more
wiley   +1 more source

A Rapid T1‐Independent Sequence for Cerebrospinal Fluid Water Standard Correction: Application to Improved Proton Density Mapping in Brain

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To improve brain water content measures relative to cerebrospinal fluid (CSF) by including a rapid T1‐independent sequence to correct for CSF T1 errors. Methods Proton density (PD) was estimated from a 3D multiple echo gradient echo sequence by extrapolating to TE = 0 and then correcting for T1 losses using a T1 map from 3D MP2RAGE. To
Kiarash Jalali   +3 more
wiley   +1 more source

Predicting Mesoscopic Larmor Frequency Shifts in Ex Vivo Porcine Optic Nerve

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Larmor frequency shifts in white matter (WM) vary with fiber orientation due to anisotropic microstructure. Since clinical voxels are significantly larger than these microscopic frequency variations, the measured signal represents a bulk average of local shifts.
Anders Dyhr Sandgaard   +9 more
wiley   +1 more source

Microstructural Changes in the Corpus Callosum in Different Forms of Sporadic Age-Related Cerebral Small Vessel Disease. [PDF]

open access: yesDiagnostics (Basel)
Kremneva EI   +7 more
europepmc   +1 more source

Chronic high‐altitude exposure and intracerebral hemorrhage: A novel perspective from the vascular‐immune‐neuronal network

open access: yesNeuroprotection, EarlyView.
Long‐term chronic high‐altitude hypobaric hypoxia increases susceptibility to ICH, particularly among migrant populations lacking EPAS1/SENP1 adaptive genetic variants relative to high‐altitude indigenous residents. Persistent hypoxia initiates blood–brain barrier (BBB) breakdown, aberrant glial and immune activation, and progressive neuronal injury ...
Rongsu Huang   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy