Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi+8 more
wiley +1 more source
An MRI assessment of mechanisms underlying lesion growth and shrinkage in multiple sclerosis
By applying the tensor model, we analysed lesion orientation and the directionality of lesion expansion/contraction in multiple sclerosis. Each lesion is summarized as an ellipsoid, and the tensor model is applied to calculate lesion anisotropy. From the top to the bottom white matter atlas, surface‐in gradient segmentation and venous atlas used in the
Ermelinda De Meo+9 more
wiley +1 more source
The Term Structure of Interest Rate as a Predictor of Inflation and Real Economic Activity: Nonlinear Evidence from Turkey [PDF]
This study investigates whether the term structure of interest rates contains useful information about future real economic activity and inflation in Turkey during the 1991:7-2004:3 periods.
Omay, Tolga
core +1 more source
Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)
Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly+9 more
wiley +1 more source
Structure-Activity-Relationship of Inhibitors of Photosynthetic Electron Flow. Herbicidal N-Alkylated-Ureas and Ringclosed N-Acylamides as Inhibitors of Photosystem II [PDF]
Achim Trebst, Eva Harth
openalex +1 more source
Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe+15 more
wiley +1 more source
Structure-activity relationships in nitrosamine carcinogenesis [PDF]
J S Wishnok, Michael C. Archer
openalex +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng+6 more
wiley +1 more source