Literature DB >> 23979103

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

Maria Gabriella Vita1, Simona Gaudino, Daniela Di Giuda, Donato Sauchelli, Paolo Emilio Alboini, Emma Gangemi, Alessandra Bizzarro, Eugenia Scaricamazza, Sabina Capellari, Piero Parchi, Carlo Masullo.   

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Year:  2013        PMID： 23979103     DOI： 10.1007/s00415-013-7078-9

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

1.  Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.

Authors:  Radoslav Matěj; Gabor G Kovacs; Silvie Johanidesová; Jiří Keller; Milada Matějčková; Jana Nováková; Vladimír Sigut; Otakar Keller; Robert Rusina
Journal:  Mov Disord       Date:  2012-04       Impact factor: 10.338

2.  Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

Authors:  J A Mastrianni; C Iannicola; R M Myers; S DeArmond; S B Prusiner
Journal:  Neurology       Date:  1996-11       Impact factor: 9.910

3.  Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.

Authors:  Sigrun Roeber; Bjarne Krebs; Manuela Neumann; Otto Windl; Inga Zerr; Eva-Maria Grasbon-Frodl; Hans A Kretzschmar
Journal:  Acta Neuropathol       Date:  2005-03-01       Impact factor: 17.088

4.  The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.

Authors:  Cao Chen; Qi Shi; Chan Tian; Qing Li; Wei Zhou; Chen Gao; Jun Han; Xiao-Ping Dong
Journal:  Prion       Date:  2011-07-01       Impact factor: 3.931

5.  Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.

Authors:  S Capellari; F Cardone; S Notari; M E Schininà; B Maras; D Sità; A Baruzzi; M Pocchiari; P Parchi
Journal:  Neurology       Date:  2005-03-08       Impact factor: 9.910

6.  Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.

Authors:  Céline Basset-Leobon; Emmanuelle Uro-Coste; Katell Peoc'h; Stéphane Haik; Véronique Sazdovitch; Mathieu Rigal; Olivier Andreoletti; Jean-Jacques Hauw; Marie-Bernadette Delisle
Journal:  Arch Neurol       Date:  2006-03
  6 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

Review 2.  Neurological update: dementia.

Authors:  A J Larner
Journal:  J Neurol       Date:  2014-02-06       Impact factor: 4.849

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.  Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier.

Authors:  Dorina Tiple; Anna Poleggi; Vittorio Mellina; Antonino Morocutti; Livia Brusa; Cesare Iani; Elisa Colaizzo; Luana Vaianella; Simone Baiardi; Anna Ladogana; Piero Parchi; Maurizio Pocchiari
Journal:  Acta Neuropathol Commun       Date:  2019-03-21       Impact factor: 7.801

Review 5.  Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Authors:  Eva Bagyinszky; Vo Van Giau; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Neuropsychiatr Dis Treat       Date:  2018-08-14       Impact factor: 2.570
  5 in total

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