Literature DB >> 15834045

A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan.

G Beck, T Kawano, I Naba, T Nishimura, J Sawada, T Hazama.   

Abstract

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Year:  2005        PMID： 15834045      PMCID： PMC1739617          DOI： 10.1136/jnnp.2004.048553

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 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

2.  De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

Authors:  M Cannella; T Martino; M Simonelli; A Ciammola; R Gradini; A Ciarmiello; F Gianfrancesco; F Squitieri
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-08-06       Impact factor: 10.154

3.  De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

Authors:  M Cannella; Tiziana Martino; Maria Simonelli; Andrea Ciammola; Roberto Gradini; Andrea Ciarmiello; Fernando Gianfrancesco; Ferdinando Squitieri
Journal:  BMJ Case Rep       Date:  2009-02-02

Review 4.  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

5.  Early onset prion disease from octarepeat expansion correlates with copper binding properties.

Authors:  Daniel J Stevens; Eric D Walter; Abel Rodríguez; David Draper; Paul Davies; David R Brown; Glenn L Millhauser
Journal:  PLoS Pathog       Date:  2009-04-17       Impact factor: 6.823
  5 in total

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