Koyama S, Yagita K, Hamasaki H, Noguchi H, Shijo M, Matsuzono K
Prion. 2024; 18(1):40-53.
PMID: 38627365
PMC: 11028012.
DOI: 10.1080/19336896.2024.2337981.
Banerjee G, Collinge J, Fox N, Lashley T, Mead S, Schott J
Brain. 2023; 146(10):3991-4014.
PMID: 37280119
PMC: 10545523.
DOI: 10.1093/brain/awad193.
Poleggi A, Baiardi S, Ladogana A, Parchi P
Front Aging Neurosci. 2022; 14:874734.
PMID: 35547619
PMC: 9083464.
DOI: 10.3389/fnagi.2022.874734.
Dergalev A, Urakov V, Agaphonov M, Alexandrov A, Kushnirov V
Int J Mol Sci. 2021; 22(4).
PMID: 33546497
PMC: 7913716.
DOI: 10.3390/ijms22041542.
Minikel E, Karczewski K, Martin H, Cummings B, Whiffin N, Rhodes D
Nature. 2020; 581(7809):459-464.
PMID: 32461653
PMC: 7272226.
DOI: 10.1038/s41586-020-2267-z.
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S, Rossi M, Capellari S, Parchi P
Brain Pathol. 2018; 29(2):278-300.
PMID: 30588685
PMC: 8028685.
DOI: 10.1111/bpa.12695.
Characterization of mutations in (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E, Giau V, Youn Y, An S, Kim S
Neuropsychiatr Dis Treat. 2018; 14:2067-2085.
PMID: 30147320
PMC: 6097508.
DOI: 10.2147/NDT.S165445.
Two novel truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S
Ann Clin Transl Neurol. 2018; 5(6):777-783.
PMID: 29928661
PMC: 5989776.
DOI: 10.1002/acn3.568.
Genetic PrP Prion Diseases.
Kim M, Takada L, Wong K, Forner S, Geschwind M
Cold Spring Harb Perspect Biol. 2017; 10(5).
PMID: 28778873
PMC: 5932589.
DOI: 10.1101/cshperspect.a033134.
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Takada L, Kim M, Cleveland R, Wong K, Forner S, Gala I
Am J Med Genet B Neuropsychiatr Genet. 2016; 174(1):36-69.
PMID: 27943639
PMC: 7207989.
DOI: 10.1002/ajmg.b.32505.
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.
Fong J, Rojas J, Bang J, Legati A, Rankin K, Forner S
J Alzheimers Dis. 2016; 55(1):249-258.
PMID: 27716661
PMC: 5149415.
DOI: 10.3233/JAD-160300.
A new prion disease: relationship with central and peripheral amyloidoses.
Mead S, Reilly M
Nat Rev Neurol. 2015; 11(2):90-7.
PMID: 25623792
DOI: 10.1038/nrneurol.2014.263.
Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation.
Themistocleous A, Kennett R, Husain M, Palace J, Mead S, Bennett D
J Neurol. 2014; 261(11):2230-3.
PMID: 25287017
PMC: 4221653.
DOI: 10.1007/s00415-014-7521-6.
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Guerreiro R, Bras J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N
Neurobiol Aging. 2014; 35(11):2656.e13-2656.e16.
PMID: 24958194
PMC: 4175176.
DOI: 10.1016/j.neurobiolaging.2014.05.013.
