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Case Report

A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1

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Pages 150-155 | Received 10 Feb 2018, Accepted 23 Feb 2018, Published online: 02 Apr 2018

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Yalçın Yaman, Bayram Şenlik, Mehmet Özüiçli, Murat Keleş, Ramazan Aymaz, Veysel Bay, Ecem Hatipoğlu, Seyrani Koncagül, Yasemin Öner & Cemal Ün. (2021) Detecting fecal egg count (FEC) for gastrointestinal nematodes of adult Turkish sheep with different scrapie related PRNP haplotypes. Animal Biotechnology 32:3, pages 381-387.
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Lin Chen, Yin Xu, Ming-juan Fang, Yong-guang Shi, Jie Zhang, Liang-liang Zhang, Yu Wang, Yong-zhu Han, Ji-yuan Hu, Ren-min Yang & Xu-en Yu. (2023) Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation. Frontiers in Neurology 14.
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G.E. Rudenskaya, F.A. Konovalov, S.N. Illarioshkin & O.A. Shchagina. (2023) Gerstmann—Sträussler disease: a familial case with common PRNP mutation and atypical features. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 123:2, pages 138.
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Adam Tesar, Radoslav Matej, Jaromir Kukal, Silvie Johanidesova, Irena Rektorova, Martin Vyhnalek, Jiri Keller, Ilona Eliasova, Eva Parobkova, Magdalena Smetakova, Zuzana Musova & Robert Rusina. (2019) Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome. Annals of Neurology 86:5, pages 643-652.
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