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4. [A case of Creutzfeldt-Jakob disease with a double mutation (V180I/M232R) in the PRNP gene]. Koh K, Takaki R, Miwa M, Nagasaka T, Shindo K, Takiyama Y. Rinsho Shinkeigaku; 2015; 55(6):424-7. PubMed ID: 26103817 [Abstract] [Full Text] [Related]
11. A point mutation in GPI-attachment signal peptide accelerates the development of prion disease. Kobayashi A, Hirata T, Shimazaki T, Munesue Y, Aoshima K, Kimura T, Nio-Kobayashi J, Hasebe R, Takeuchi A, Matsuura Y, Kusumi S, Koga D, Iwasaki Y, Kinoshita T, Mohri S, Kitamoto T. Acta Neuropathol; 2023 May; 145(5):637-650. PubMed ID: 36879070 [Abstract] [Full Text] [Related]
15. [An autopsy-verified case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation]. Matsumura T, Kojima S, Kuroiwa Y, Takagi A, Unakami M, Kitamoto T. Rinsho Shinkeigaku; 1995 Mar 13; 35(3):282-5. PubMed ID: 7614752 [Abstract] [Full Text] [Related]
18. An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein. Hama T, Iwasaki Y, Niwa H, Yoshida M, Hashizume Y, Kitamoto T, Murakami N, Sobue G. Neuropathology; 2009 Dec 13; 29(6):727-34. PubMed ID: 19422533 [Abstract] [Full Text] [Related]
19. Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene. Tsuboi Y, Baba Y, Doh-ura K, Imamura A, Fujioka S, Yamada T. J Neurol Sci; 2005 May 15; 232(1-2):45-9. PubMed ID: 15850581 [Abstract] [Full Text] [Related]