Results 111 to 120 of about 4,840,438 (270)
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
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Generalized Fekete Means [PDF]
openaire +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
In this article, by mathematical induction and properties of the generalized weighted mean values, some general Steffensen pairs are ...
Qi, Feng, Guo, Bai-Ni
core +1 more source
Results on Generalized Logarithmic Mean and Beta-Logarithmic Function of Matrix Arguments
The main focus of this manuscript is to provide generalizations of logarithmic mean and extended beta function in the framework of matrix setting.
Hala Abd Elmageed, Mohamed Abdalla
doaj +1 more source
Correction to "Generalized Means" [PDF]
openaire +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
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
A comparative analysis of mean charts assuming Weibull and generalized exponential distributions
This study discusses Shewhart control charts to monitor the mean of non-normally distributed data using extensive Monte Carlo simulations. In particular, Weibull, exponential, and generalized exponential distributions are used to conduct a systematic ...
Asad Raza +4 more
doaj +1 more source

