Literature DB >> 15776279

Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene.

Bjarne Krebs1, Rosa-Maria Lederer, Otto Windl, Eva-Maria Grasbon-Frodl, Inga Zerr, Hans A Kretzschmar.   

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Year:  2005        PMID： 15776279     DOI： 10.1007/s10048-004-0208-x

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


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  9 in total

1.  The paraffin-embedded tissue blot detects PrP(Sc) early in the incubation time in prion diseases.

Authors:  W J Schulz-Schaeffer; S Tschöke; N Kranefuss; W Dröse; D Hause-Reitner; A Giese; M H Groschup; H A Kretzschmar
Journal:  Am J Pathol       Date:  2000-01       Impact factor: 4.307

2.  Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.

Authors:  P Parchi; A Giese; S Capellari; P Brown; W Schulz-Schaeffer; O Windl; I Zerr; H Budka; N Kopp; P Piccardo; S Poser; A Rojiani; N Streichemberger; J Julien; C Vital; B Ghetti; P Gambetti; H Kretzschmar
Journal:  Ann Neurol       Date:  1999-08       Impact factor: 10.422

3.  Molecular genetics of human prion diseases in Germany.

Authors:  O Windl; A Giese; W Schulz-Schaeffer; I Zerr; K Skworc; S Arendt; C Oberdieck; M Bodemer; S Poser; H A Kretzschmar
Journal:  Hum Genet       Date:  1999-09       Impact factor: 4.132

4.  Epitope mapping of the Syrian hamster prion protein utilizing chimeric and mutant genes in a vaccinia virus expression system.

Authors:  M Rogers; D Serban; T Gyuris; M Scott; T Torchia; S B Prusiner
Journal:  J Immunol       Date:  1991-11-15       Impact factor: 5.422

5.  Analysis of 27 mammalian and 9 avian PrPs reveals high conservation of flexible regions of the prion protein.

Authors:  F Wopfner; G Weidenhöfer; R Schneider; A von Brunn; S Gilch; T F Schwarz; T Werner; H M Schätzl
Journal:  J Mol Biol       Date:  1999-06-25       Impact factor: 5.469

6.  A novel epitope for the specific detection of exogenous prion proteins in transgenic mice and transfected murine cell lines.

Authors:  I Vorberg; A Buschmann; S Harmeyer; A Saalmüller; E Pfaff; M H Groschup
Journal:  Virology       Date:  1999-03-01       Impact factor: 3.616

7.  Variation of the prion gene in chimpanzees and its implication for prion diseases.

Authors:  M Soldevila; A M Andrés; A Blancher; F Calafell; M Ordoñez; M Pumarola; B Oliva; J Aramburu; J Bertranpetit
Journal:  Neurosci Lett       Date:  2004-01-30       Impact factor: 3.046

8.  Prion (PrPSc)-specific epitope defined by a monoclonal antibody.

Authors:  C Korth; B Stierli; P Streit; M Moser; O Schaller; R Fischer; W Schulz-Schaeffer; H Kretzschmar; A Raeber; U Braun; F Ehrensperger; S Hornemann; R Glockshuber; R Riek; M Billeter; K Wüthrich; B Oesch
Journal:  Nature       Date:  1997-11-06       Impact factor: 49.962

9.  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
  9 in total
  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.  Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.

Authors:  Manuela Pastore; Steven S Chin; Karen L Bell; Zhiqian Dong; Qiwei Yang; Lizhu Yang; Jue Yuan; Shu G Chen; Pierluigi Gambetti; Wen-Quan Zou
Journal:  Am J Pathol       Date:  2005-12       Impact factor: 4.307

Review 3.  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

4.  Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.

Authors:  Anna Ladogana; Pascual Sanchez-Juan; Eva Mitrová; Alison Green; Natividad Cuadrado-Corrales; Raquel Sánchez-Valle; Silvia Koscova; Adriano Aguzzi; Theodoros Sklaviadis; Jerzy Kulczycki; Joanna Gawinecka; Albert Saiz; Miguel Calero; Cornelia M van Duijn; Maurizio Pocchiari; Richard Knight; Inga Zerr
Journal:  J Neurol       Date:  2009-05-15       Impact factor: 4.849

5.  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
  5 in total

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