Literature DB >> 16025285

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.

John Woulfe, Andrew Kertesz, Inge Frohn, Sharon Bauer, Peter St George-Hyslop, Catherine Bergeron.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 16025285     DOI： 10.1007/s00401-005-1054-0

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


× No keyword cloud information.
  12 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.  Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

Authors:  Zhongyun Chen; Min Chu; Li Liu; Jing Zhang; Yu Kong; Kexin Xie; Yue Cui; Hong Ye; Junjie Li; Lin Wang; Liyong Wu
Journal:  Alzheimers Res Ther       Date:  2022-06-29       Impact factor: 8.823

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.  Systematic investigation of predicted effect of nonsynonymous SNPs in human prion protein gene: a molecular modeling and molecular dynamics study.

Authors:  Samad Jahandideh; Degui Zhi
Journal:  J Biomol Struct Dyn       Date:  2013-03-25

5.  Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Authors:  Casper Jansen; Piero Parchi; Sabina Capellari; Ad J Vermeij; Patrizia Corrado; Frank Baas; Rosaria Strammiello; Willem A van Gool; John C van Swieten; Annemieke J M Rozemuller
Journal:  Acta Neuropathol       Date:  2009-11-13       Impact factor: 17.088

6.  Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family.

Authors:  Anna Rita Giovagnoli; Giuseppe Di Fede; Anna Aresi; Fabiola Reati; Giacomina Rossi; Fabrizio Tagliavini
Journal:  Neurol Sci       Date:  2008-11-21       Impact factor: 3.307

7.  iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.

Authors:  Andreu Matamoros-Angles; Lucía Mayela Gayosso; Yvonne Richaud-Patin; Angelique di Domenico; Cristina Vergara; Arnau Hervera; Amaya Sousa; Natalia Fernández-Borges; Antonella Consiglio; Rosalina Gavín; Rakel López de Maturana; Isidro Ferrer; Adolfo López de Munain; Ángel Raya; Joaquín Castilla; Rosario Sánchez-Pernaute; José Antonio Del Río
Journal:  Mol Neurobiol       Date:  2017-05-02       Impact factor: 5.590

8.  Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.

Authors:  Eva Bagyinszky; YoungSoon Yang; Vo Van Giau; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2019-08-02       Impact factor: 4.458

Review 9.  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

Review 10.  Cellular Prion Protein (PrPc): Putative Interacting Partners and Consequences of the Interaction.

Authors:  Hajar Miranzadeh Mahabadi; Changiz Taghibiglou
Journal:  Int J Mol Sci       Date:  2020-09-25       Impact factor: 5.923
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.