Patrick Bourgouin

TL;DR: Together these approaches showed that TARDBP mutations cause motor neuron defects and toxicity, suggesting that both a toxic gain of function as well as a novel loss of function may be involved in the molecular mechanism by which mutant TDP-43 contributes to disease pathogenesis.

TL;DR: This review concludes that the prion protein gene codon 129 modulates clinical course of neurological Wilson disease and is associated with cognitive impairment in the elderly: the EVA study.

TL;DR: Sybil as mentioned in this paper uses a deep learning model assessing the entire volumetric low-dose computed tomography (LDCT) data to predict individual risk without requiring additional demographic or clinical data.

TL;DR: In patients undergoing SBRT for stage I lung cancer, higher CAC score, higher PA-to-aorta ratio, and lower thoracic skeletal muscle index independently predicted worse OS, compared with clinical features alone.

TL;DR: A 56-year-old woman was admitted in the spring of 2020 because of fever, myalgias, diarrhea, and a dry cough, and she had had contact with a person with SARS-CoV-2 infection six weeks earlier.