Results 201 to 210 of about 3,001,295 (296)
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu +10 more
wiley +1 more source
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang +7 more
wiley +1 more source
X-Linked Gene Dosage and SOX2 Act as Key Roadblocks for Human Germ Cell Specification in Klinefelter Syndrome. [PDF]
He W +10 more
europepmc +1 more source
Subjective Cognitive Concerns and Cognitive Trajectories in Parkinson's Disease: Biomarker Impact
ABSTRACT Objective To examine the relationship of subjective cognitive concerns (SCC) with biomarkers of Alzheimer's disease (AD), neurodegeneration, and Parkinson's disease (PD) and domain‐specific cognitive trajectories among cognitively unimpaired persons with de novo PD. Method Cognitively unimpaired participants with SCC (n = 294) and without SCC (
Francesca V. Lopez +5 more
wiley +1 more source
Gene dosage of <i>PDR16</i> modulates azole susceptibility in <i>Candida auris</i>. [PDF]
Phan-Canh T, Bitencourt T, Kuchler K.
europepmc +1 more source
Gene A. Chesley (1935-1981) was a highly regarded scenic designer, theatre historian, and teacher. Chesley taught in the Dramatic Art Deparment at the University of California Davis from 1963 until his death at age 46 in 1981.
Chesley, Gene A.
core
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Reduced Gene Dosage of the Psychiatric Risk Gene <i>Cacna1c</i> Is Associated with Impairments in Hypothalamic-Pituitary-Adrenal Axis Activity in Rats. [PDF]
Moon AL +6 more
europepmc +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino +42 more
wiley +1 more source

