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
Droplet-based single-cell pairing for high-throughput interaction mapping of antigen-receptor combinations. [PDF]
Nan L +8 more
europepmc +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Linking the NETSARC+ National Sarcoma Database With the SNDS to Evaluate Adjuvant and/or Neoadjuvant Therapy: Report on the Linkage Process and Result (Health Data Hub's DEEPSARC Pilot Project). [PDF]
Drezen E +12 more
europepmc +1 more source
Portable Low‐Field Magnetic Resonance Imaging in People With Human Immunodeficiency Virus
ABSTRACT Objective The aging population of people with HIV (PWH) raises heightened concerns regarding accelerated aging and dementia. Portable, low‐field MRI (LF‐MRI) is an innovative technology that could enhance access and facilitate routine monitoring of PWH.
Annabel Sorby‐Adams +14 more
wiley +1 more source
TVAE-RNA: ensemble-based RNA secondary structure prediction via transformer variational autoencoders. [PDF]
Mei X +5 more
europepmc +1 more source
Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin +2 more
wiley +1 more source
One transcript, two functions: the emerging roles of dual-function RNAs. [PDF]
Luke LM, Papenfort K.
europepmc +1 more source
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

