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
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
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S et al.
Annals of Clinical and Translational Neurology, 2018
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