NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L)
Author:
Funder
Ministero della Salute
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11033-023-08764-z.pdf
Reference33 articles.
1. Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D et al (1998) Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 57:979–988
2. Doh-ura K, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y (1989) Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun 163:974–979
3. Prusiner SB (1982) Novel proteinaceous infectious particles cause scrapie. Science 9(4542):136–144
4. Parchi P, Chen SG, Brown P, Zou W, Capellari S, Budka H et al (1998) Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease. Proc Natl Acad Sci U S A. 7;95(14):8322–7
5. Bagyinszky E, Giau VV, Youn YC, An SSA, Kim S (2014) Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases. Neuropsychiatr Dis Treat. 2018;14:2067–85
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