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
The application of artificial airway care for postoperative weaning patients with cerebral hemorrhage by failure mode and effect analysis mode. [PDF]
Tang X +6 more
europepmc +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
Effect of position within a blank and thermo-mechanical aging on fracture force and failure mode of strength-gradient multilayer zirconia crowns. [PDF]
Imaemporn S +2 more
europepmc +1 more source
The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen +5 more
wiley +1 more source
Applying healthcare failure mode and effect analysis to enhance patient-controlled analgesia in acute post anesthesia pain management. [PDF]
Chen S, Zhang H, Zhi H, Wang J.
europepmc +1 more source
Design failure mode effects analysis and customer approach matrix: A case study in an automotive company [PDF]
Mohd Akhir Ahmad +3 more
openalex
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Nonlinear energy consumption analysis of shallow-buried bias tunnel stability with improvement of failure mode. [PDF]
Luo W, Liu S, Tao Z, Wang H, Gan X.
europepmc +1 more source

