Results 81 to 90 of about 17,030 (214)
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Cell Proliferation, EarlyView.This study identifies ferroptosis as a key driver of diabetes and its complications via iron metabolism and lipid peroxidation, elucidates organelle interactions underlying cell vulnerability, and provides insights for targeted therapies against metabolic disorders.
Zheng Wang +10 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.At 2 years, 10 years, and 15 years, the presence of early white matter injury (WMI) moderated associations between lower social risk and cognitive functioning in the social disadvantage index group x WMI interactions for combined abilities. Findings suggest that the benefits of low social risk were present in those without early WMI, but are ...
Stephen R. Hooper +10 more
wiley +1 more source
Unilateral Freezing of Gait in Normal Pressure Hydrocephalus after Stroke
Movement Disorders Clinical Practice, EarlyView.
Jose Portales +2 more
wiley +1 more source
Variability in intracellular localization of D‐amino acid oxidase in choroid plexus epithelial cells
The FEBS Journal, EarlyView.D‐amino acid oxidase (DAO) in choroid plexus epithelial cells (CPECs) shows vesicle‐like localization by histological and super‐resolution analyses. DAO colocalizes with peroxisomal, Golgi, endosomal, lysosomal, autophagosomal, and exosomal markers, indicating diverse subcellular distribution. This suggests DAO is transported within CPECs to metabolize
Koji Ono +3 more
wiley +1 more source
Internal Medicine Journal, EarlyView.Abstract Background To identify early diagnostic clues, we analysed cerebrospinal fluid and serum biomarkers in patients with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) and compared biomarker trends with those in patients with viral meningoencephalitis, tuberculous meningoencephalitis, and anti‐N‐methyl‐D‐aspartate receptor ...
Siruo Guo +3 more
wiley +1 more source
Homonymous hemianopsia as the leading symptom of a tumor like demyelinating lesion: a case report [PDF]
, 2009 Maria Eleptheria Evangelopoulos +18 more
core +1 more source
Perfusion-weighted magnetic resonance imaging of the brain: techniques and application in children [PDF]
, 2018 Perfusion-weighted magnetic resonance imaging (PWI) has been proposed as an attractive non-invasive tool for evaluating cerebral haemodynamics. Quantitative maps of cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT), time to ...
Huisman, Thierry, Sorensen, A.
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