Results 181 to 190 of about 436,032 (358)
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
Some Micromechanical Aspects of Damage and Fracture
The failure mode is described by means of elasto-plastic fracture mechanics and the main aspects of fatigue crack behaviour are itemized. The crux of the matter is the presentation of the pplicability limits of the three substantially different fatigue ...
P. Brož
doaj
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
En el artículo se analizan las causas de una avería producida en un compresor de amoniaco del Frigorífico de la ciudad deCienfuegos. En el trabajo se aplican los conceptos de la Fractura Mecánica Lineal Elástica y de la Fractura MecánicaSubcrítica para ...
R. Goytisolo Espinosa +5 more
doaj
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
Multiaxial Fatigue Life Assessment of Large Welded Flange Shafts: A Continuum Damage Mechanics Approach. [PDF]
Xu Z +9 more
europepmc +1 more source
An experimentally-calibrated damage mechanics model for stone fracture in shock wave lithotripsy. [PDF]
Fovargue D +4 more
europepmc +1 more source
Continuum damage mechanics models and their applications to composite components of aero-engines [PDF]
Tianhong Yu
openalex
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
Fatigue Life Analysis of Titanium Torsion Spring Based on Continuous Damage Mechanics. [PDF]
Meng D, Zhang C, Yang F, Duan F.
europepmc +1 more source

