Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Associations Between Baseline Biomarkers and Functional Outcomes in Patients With Diabetic Macular Edema After Anti-VEGF Treatment. [PDF]
Cai Y +7 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Clinical Experience of Transcatheter Tricuspid Valve-In-Ring Interventions With Incomplete Rings: Transjugular and Transfemoral Approaches. [PDF]
Lai LKL +14 more
europepmc +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
Development and Evaluation of a Quadrant Silicon Pad Sensor for the TexAT Active Target Detector. [PDF]
Gu GM +7 more
europepmc +1 more source
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Broadband solar energy harvesting and near-perfect thermal emission on a unified stepped-high concentric dual-ring metamaterial. [PDF]
Liang Q, Gu Y, Wu S, Chen J, Chen X.
europepmc +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Homogeneity in commutative graded rings
In this paper, we establish several new results on commutative G-graded rings where G is a totally ordered abelian group. McCoy’s theorem and Armendariz’ theorem are classical results in the theory of polynomial rings.
Öinert, Johan,, Tarizadeh, Abolfazl,
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