Literature DB >> 15480878

A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease.

E Grasbon-Frodl, R Schmalzbauer, P Weber, B Krebs, O Windl, I Zerr, H A Kretzschmar.   

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Year:  2004        PMID： 15480878     DOI： 10.1007/s10048-004-0196-x

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

1.  Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.

Authors:  G Rossi; G Giaccone; L Giampaolo; S Iussich; G Puoti; M Frigo; G Cavaletti; L Frattola; O Bugiani; F Tagliavini
Journal:  Neurology       Date:  2000-08-08       Impact factor: 9.910

2.  Octapeptide repeat insertions in the prion protein gene and early onset dementia.

Authors:  E A Croes; J Theuns; J J Houwing-Duistermaat; B Dermaut; K Sleegers; G Roks; M Van den Broeck; B van Harten; J C van Swieten; M Cruts; C Van Broeckhoven; C M van Duijn
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-08       Impact factor: 10.154

3.  Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.

Authors:  Shui-Liang Yu; Lei Jin; Man-Sun Sy; Fang-Hua Mei; Shu-Li Kang; Gui-Hong Sun; Po Tien; Fu-Sheng Wang; Geng-Fu Xiao
Journal:  Eur J Hum Genet       Date:  2004-10       Impact factor: 4.246

4.  Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

Authors:  L G Goldfarb; P Brown; W R McCombie; D Goldgaber; G D Swergold; P R Wills; L Cervenakova; H Baron; C J Gibbs; D C Gajdusek
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

5.  Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD.

Authors:  Silvio Notari; Sabina Capellari; Armin Giese; Ingo Westner; Agostino Baruzzi; Bernardino Ghetti; Pierluigi Gambetti; Hans A Kretzschmar; Piero Parchi
Journal:  J Biol Chem       Date:  2004-01-29       Impact factor: 5.157

6.  Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.

Authors:  V Pietrini; G Puoti; L Limido; G Rossi; G Di Fede; G Giaccone; M Mangieri; F Tedeschi; A Bondavalli; D Mancia; O Bugiani; F Tagliavini
Journal:  Neurology       Date:  2003-11-11       Impact factor: 9.910
  6 in total
  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.  Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.

Authors:  Byung-Hoon Jeong; Kyung-Hee Lee; Nam-Ho Kim; Jae-Kwang Jin; Jae-Il Kim; Richard I Carp; Yong-Sun Kim
Journal:  Neurogenetics       Date:  2005-10-11       Impact factor: 2.660

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

Review 5.  An overview of human prion diseases.

Authors:  Muhammad Imran; Saqib Mahmood
Journal:  Virol J       Date:  2011-12-24       Impact factor: 4.099

6.  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

7.  Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Authors:  Simone Baiardi; Marcello Rossi; Angela Mammana; Brian S Appleby; Marcelo A Barria; Ignazio Calì; Pierluigi Gambetti; Ellen Gelpi; Armin Giese; Bernardino Ghetti; Jochen Herms; Anna Ladogana; Jacqueline Mikol; Suvankar Pal; Diane L Ritchie; Viktoria Ruf; Otto Windl; Sabina Capellari; Piero Parchi
Journal:  Acta Neuropathol       Date:  2021-07-29       Impact factor: 17.088
  7 in total

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