Literature DB >> 19187063

Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).

D A Hilton, M W Head, V K Singh, M Bishop, J W Ironside.   

Abstract

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Year:  2009        PMID： 19187063     DOI： 10.1111/j.1365-2990.2008.00964.x

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  7 in total

Review 1.  Genetic PrP Prion Diseases.

Authors:  Mee-Ohk Kim; Leonel T Takada; Katherine Wong; Sven A Forner; Michael D Geschwind
Journal:  Cold Spring Harb Perspect Biol       Date:  2018-05-01       Impact factor: 10.005

Review 2.  Hereditary Human Prion Diseases: an Update.

Authors:  Matthias Schmitz; Kathrin Dittmar; Franc Llorens; Ellen Gelpi; Isidre Ferrer; Walter J Schulz-Schaeffer; Inga Zerr
Journal:  Mol Neurobiol       Date:  2016-06-20       Impact factor: 5.590

3.  Conservation of a glycine-rich region in the prion protein is required for uptake of prion infectivity.

Authors:  Christopher F Harrison; Victoria A Lawson; Bradley M Coleman; Yong-Sun Kim; Colin L Masters; Roberto Cappai; Kevin J Barnham; Andrew F Hill
Journal:  J Biol Chem       Date:  2010-03-31       Impact factor: 5.157

4.  Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations.

Authors:  Wei Chen; Marc W van der Kamp; Valerie Daggett
Journal:  Biochemistry       Date:  2010-10-22       Impact factor: 3.162

Review 5.  The consequences of pathogenic mutations to the human prion protein.

Authors:  Marc W van der Kamp; Valerie Daggett
Journal:  Protein Eng Des Sel       Date:  2009-07-14       Impact factor: 1.650

Review 6.  Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Authors:  Leonel T Takada; Mee-Ohk Kim; Ross W Cleveland; Katherine Wong; Sven A Forner; Ignacio Illán Gala; Jamie C Fong; Michael D Geschwind
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-01       Impact factor: 3.568

7.  Impaired transmissibility of atypical prions from genetic CJDG114V.

Authors:  Ignazio Cali; Fadi Mikhail; Kefeng Qin; Crystal Gregory; Ani Solanki; Manuel Camacho Martinez; Lili Zhao; Brian Appleby; Pierluigi Gambetti; Eric Norstrom; James A Mastrianni
Journal:  Neurol Genet       Date:  2018-08-07
  7 in total

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