Literature DB >> 22488860

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

Radoslav Matěj1, Gabor G Kovacs, Silvie Johanidesová, Jiří Keller, Milada Matějčková, Jana Nováková, Vladimír Sigut, Otakar Keller, Robert Rusina.   

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Year:  2012        PMID： 22488860     DOI： 10.1002/mds.24002

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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

Authors:  Maria Gabriella Vita; Simona Gaudino; Daniela Di Giuda; Donato Sauchelli; Paolo Emilio Alboini; Emma Gangemi; Alessandra Bizzarro; Eugenia Scaricamazza; Sabina Capellari; Piero Parchi; Carlo Masullo
Journal:  J Neurol       Date:  2013-08-25       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

Review 4.  MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy.

Authors:  Igor N Petrovic; Antonio Martin-Bastida; Luke Massey; Helen Ling; Sean S O'Sullivan; David R Williams; Janice L Holton; Tamas Revesz; James W Ironside; Andrew J Lees; Laura Silveira-Moriyama
Journal:  J Neurol       Date:  2012-11-21       Impact factor: 4.849

5.  Proteinase-activated receptor 2 and disease biomarkers in cerebrospinal fluid in cases with autopsy-confirmed prion diseases and other neurodegenerative diseases.

Authors:  Zdenek Rohan; Magdalena Smetakova; Jaromir Kukal; Robert Rusina; Radoslav Matej
Journal:  BMC Neurol       Date:  2015-03-31       Impact factor: 2.474

6.  Creutzfeldt-Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia.

Authors:  Mais Arwani; Abhishek Purohit; Abdullah Haddad; Sandeep Rana
Journal:  Avicenna J Med       Date:  2018 Oct-Dec

7.  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 8.  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

9.  Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.

Authors:  Helen Ling; Ellen Gelpi; Karen Davey; Zane Jaunmuktane; Kin Y Mok; Edwin Jabbari; Roberto Simone; Lea R'Bibo; Sebastian Brandner; Matthew J Ellis; Johannes Attems; David Mann; Glenda M Halliday; S Al-Sarraj; J Hedreen; James W Ironside; Gabor G Kovacs; E Kovari; S Love; Jean Paul G Vonsattel; Kieren S J Allinson; Daniela Hansen; Teisha Bradshaw; Núria Setó-Salvia; Selina Wray; Rohan de Silva; Huw R Morris; Thomas T Warner; John Hardy; Janice L Holton; Tamas Revesz
Journal:  Acta Neuropathol       Date:  2020-01-16       Impact factor: 17.088
  9 in total

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