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
AttenResNet18: A Novel Cross-Domain Fault Diagnosis Model for Rolling Bearings. [PDF]
Huang G +7 more
europepmc +1 more source
Kernel Regression and Neural Networks for Model-Free Fault Diagnosis
Gianfranco Fenu, Thomas Parisini
openalex +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 bearing fault diagnosis via decoupled distillation and low rank adaptation. [PDF]
Petrosian O +6 more
europepmc +1 more source
A Multi-Objective Optimisation Approach to Robust Fault Diagnosis Using a Genetic Algorithm
Ron J. Patton, J. Chen
openalex +1 more source
Fault isolation for diagnosis: Nuisance rejection and multiple hypotheses testing [PDF]
Michèle Basseville, Igor V. Nikiforov
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
Intelligent fault diagnosis based on multi-source information fusion and attention-enhanced networks. [PDF]
Tong C, Chen L, Zhang J, Zhao Z.
europepmc +1 more source
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source

