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
Development and Internal Validation of a Bailout Risk Score in PCI with Drug-Coated Balloons. [PDF]
Iossa LA +12 more
europepmc +1 more source
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan +12 more
wiley +1 more source
High-Fidelity MicroCT Reconstructions of Cardiac Devices Enable Patient-Specific Simulation for Structural Heart Interventions. [PDF]
Zhu Z +5 more
europepmc +1 more source
Procedural Method for Fast Table Mountains Modelling in Virtual Environments [PDF]
Korneliusz Warszawski +2 more
openalex +1 more source
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
Occupational Radiation Risk Stratification and Protection in Fluoroscopy-Guided Surgeons and Interventionalists: A Multispecialty Structured Narrative Review. [PDF]
Okraku-Yirenkyi NK +4 more
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
Beyond Strict Physics: Using Poiseuille's Law as a Practical Framework to Optimize and Personalize Cementoplasty. [PDF]
Grange S +7 more
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

