Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
Author:
Funder
Fonds Wetenschappelijk Onderzoek
Bijzonder Onderzoeksfonds UGent
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-023-11968-9.pdf
Reference56 articles.
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2. Mead S (2006) Inherited prion disease with six octapeptide repeat insertional mutation–molecular analysis of phenotypic heterogeneity. Brain. 129(9):2297–317
3. Areškevičiūtė A, Høgh P, Bartoletti-Stella A, Melchior LC, Nielsen PR, Parchi P (2019) A novel eight octapeptide repeat insertion in PRNP causing prion disease in a Danish family. j neuropathol exp neurol. 78(7):595–604
4. Chen Z, Nan H, Kong Y, Chu M, Liu L, Zhang J (2022) Amino acid substitution within seven-octapeptide repeat insertions in the prion protein gene associated with short-term course. Viruses. 14(10):2245
5. Yu SL, Jin L, Sy MS, Mei FH, Kang SL, Sun GH (2004) Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation. Eur J Hum Genet. 12(10):867–70
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