Results 101 to 110 of about 277,827 (338)
Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi +19 more
wiley +1 more source
Defectors: A Large Scale Python Dataset for Defect Prediction
, 2023 Parvez Mahbub +2 more
openalex +1 more source
Software defect prediction based on stacked sparse denoising autoencoders and enhanced extreme learning machine [PDF]
, 2021 Nana Zhang +3 more
openalex +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
MathematicsThe increasing complexity of manufacturing processes demands accurate defect prediction and interpretable insights into the causes of quality issues. This study proposes a methodology integrating machine learning, clustering, and Explainable Artificial ...
Gabriel Marín Díaz
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Defect Prediction for Capacitive Equipment in Power System
Applied SciencesAs a core component of the smart grid, capacitive equipment plays a critical role in modern power systems. When defects occur, they pose a significant threat to the safety of both other equipment and personnel.
Qingjun Peng, Zezhong Zheng, Hao Hu
doaj +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
CODSTRAN: Composite durability structural analysis [PDF]
CODSTRAN (COmposite Durability STRuctural ANalysis) is an integrated computer program being developed for the prediction of defect growth and fracture of composite structures subjected to service loads and environments. CODSTRAN is briefly described with
Chamis, C. C., Smith, G. T.
core +1 more source