Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157.
Holm-Mercer L et al.
Journal of Alzheimer's Disease : Jad, 2025
GPI-anchorless prion disease is sensitive to oxidative stress and shows potential for treatment with edaravone, based on iPS-derived neuron study.
Matsuzono K et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Optic nerve atrophy and visual disturbance following PRNP Y162X truncation mutation.
Matsuzono K et al.
Journal of the Neurological Sciences, 2021
Prion Gene PRNP Y162X Truncation Mutation Can Induce a Refractory Esophageal Achalasia.
Matsuzono K et al.
The American Journal of Gastroenterology, 2021
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV et al.
Nature, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 2019
A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea.
Bommarito G et al.
European Journal of Neurology, 2018
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