SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Enhancing electrical and thermal stress capabilities of hybrid CBs in VSC based MT HVDC grids using thyristor based FCL topology. [PDF]
Khan B +5 more
europepmc +1 more source
Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting +12 more
wiley +1 more source
Lightweight neural networks with anti-colored noise for bearing fault diagnosis using deep separable convolution and transfer learning. [PDF]
Li J, Wang N, Wang D, Gao G, Pan W.
europepmc +1 more source
Arc-fault Protection in PV Installations:Ensuring PV Safety and Bankability.
Jay Johnson
openalex +1 more source
Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
State and Fault Estimation for Uncertain Complex Networks Using Binary Encoding Schemes Under Switching Couplings and Deception Attacks. [PDF]
Hou N, Chang M, Gao H, Hu Z, Bu X.
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source
A fault diagnosis method for rotating machinery components based on enhanced YOLO v8 and integrated attention mechanism. [PDF]
Wang X, Yuan L, Ma L, Liu J.
europepmc +1 more source
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin +6 more
wiley +1 more source

