Results 201 to 210 of about 179,681 (354)

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

Timing of Peri‐Ictal MRI Abnormalities in Status Epilepticus – One Size Does Not Fit All

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to investigate timing of occurrence of peri‐ictal MRI abnormalities – a potential risk biomarker of status epilepticus‐related cerebral injury (t2). Methods This prospective study enrolled adult patients with status epilepticus and acute magnetic resonance imaging (MRI); patients with peri‐ictal MRI abnormalities underwent follow‐up ...
Pilar Bosque Varela   +12 more
wiley   +1 more source

Clinical Survey and Predictors of Outcomes of Pediatric Out-of-Hospital Cardiac Arrest Admitted to the Emergency Department [PDF]

open access: gold, 2019
Jung Lee   +6 more
openalex   +1 more source

Temporal trends of suicide-related non-traumatic out-of-hospital cardiac arrest characteristics and outcomes with the COVID-19 pandemic

open access: gold, 2022
Justin Yap   +8 more
openalex   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

open access: yesAnnals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse   +16 more
wiley   +1 more source

Pre-hospital management of traumatic cardiac arrest 2024 position statement: Faculty of Prehospital Care, Royal College of Surgeons of Edinburgh

open access: yesScandinavian Journal of Trauma, Resuscitation and Emergency Medicine
Celestine Weegenaar   +2 more
doaj   +1 more source

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