Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Platform Governance, Institutional Distance, and Seller Trust in Cross-Border E-Commerce. [PDF]
Sun Y, Qu Q.
europepmc +1 more source
Supervision, performance assessment, and recognition strategy - a quasi-experimental pre-post study of the multipronged interventions to and strengthen medicines management in Nepal. [PDF]
Shrestha R+5 more
europepmc +1 more source
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat+8 more
wiley +1 more source
Psychological hardiness, social support, and emotional labor among nurses in Iran during the COVID-19 pandemic: A cross-sectional survey study. [PDF]
Saei E, Lee RT.
europepmc +1 more source
NEW SUPERVISORY CONTROL USING CONTROL-RELEVANT SWITCHING
Tae-Woong Yoon, Jung‐Su Kim
openalex +1 more source
ABSTRACT Objective To investigate the overall use of prescription medications among individuals with multiple sclerosis compared to the general population, with a focus on treatments beyond disease‐modifying therapies. Methods We conducted a nationwide, registry‐based study in Denmark.
Josefine Windfeld‐Mathiasen+4 more
wiley +1 more source
Factors associated with overreporting based on community verification results in a performance-based financing program in Zimbabwe. [PDF]
Gorman T+8 more
europepmc +1 more source
Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report
ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng+5 more
wiley +1 more source