Literature DB >> 22108575

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation.

Jon Beck, John Collinge, Simon Mead.   

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Year:  2011        PMID： 22108575     DOI： 10.1093/brain/awr294

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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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

Review 2.  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

3.  Quantifying prion disease penetrance using large population control cohorts.

Authors:  Eric Vallabh Minikel; Sonia M Vallabh; Monkol Lek; Karol Estrada; Kaitlin E Samocha; J Fah Sathirapongsasuti; Cory Y McLean; Joyce Y Tung; Linda P C Yu; Pierluigi Gambetti; Janis Blevins; Shulin Zhang; Yvonne Cohen; Wei Chen; Masahito Yamada; Tsuyoshi Hamaguchi; Nobuo Sanjo; Hidehiro Mizusawa; Yosikazu Nakamura; Tetsuyuki Kitamoto; Steven J Collins; Alison Boyd; Robert G Will; Richard Knight; Claudia Ponto; Inga Zerr; Theo F J Kraus; Sabina Eigenbrod; Armin Giese; Miguel Calero; Jesús de Pedro-Cuesta; Stéphane Haïk; Jean-Louis Laplanche; Elodie Bouaziz-Amar; Jean-Philippe Brandel; Sabina Capellari; Piero Parchi; Anna Poleggi; Anna Ladogana; Anne H O'Donnell-Luria; Konrad J Karczewski; Jamie L Marshall; Michael Boehnke; Markku Laakso; Karen L Mohlke; Anna Kähler; Kimberly Chambert; Steven McCarroll; Patrick F Sullivan; Christina M Hultman; Shaun M Purcell; Pamela Sklar; Sven J van der Lee; Annemieke Rozemuller; Casper Jansen; Albert Hofman; Robert Kraaij; Jeroen G J van Rooij; M Arfan Ikram; André G Uitterlinden; Cornelia M van Duijn; Mark J Daly; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2016-01-20       Impact factor: 17.956

4.  Genotype patterns and characteristics of PRNP in the Korean population.

Authors:  Sol Moe Lee; Young Ran Ju; Bo-Yeong Choi; Jae Wook Hyeon; Jun Sun Park; Chi Kyeong Kim; Su Yeon Kim
Journal:  Prion       Date:  2012-05-07       Impact factor: 3.931

Review 5.  The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.

Authors:  Neil Watson; Jean-Philippe Brandel; Alison Green; Peter Hermann; Anna Ladogana; Terri Lindsay; Janet Mackenzie; Maurizio Pocchiari; Colin Smith; Inga Zerr; Suvankar Pal
Journal:  Nat Rev Neurol       Date:  2021-05-10       Impact factor: 42.937

6.  Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Authors:  Tatiana Orme; Dena Hernandez; Owen A Ross; Celia Kun-Rodrigues; Lee Darwent; Claire E Shepherd; Laura Parkkinen; Olaf Ansorge; Lorraine Clark; Lawrence S Honig; Karen Marder; Afina Lemstra; Ekaterina Rogaeva; Peter St George-Hyslop; Elisabet Londos; Henrik Zetterberg; Kevin Morgan; Claire Troakes; Safa Al-Sarraj; Tammaryn Lashley; Janice Holton; Yaroslau Compta; Vivianna Van Deerlin; John Q Trojanowski; Geidy E Serrano; Thomas G Beach; Suzanne Lesage; Douglas Galasko; Eliezer Masliah; Isabel Santana; Pau Pastor; Pentti J Tienari; Liisa Myllykangas; Minna Oinas; Tamas Revesz; Andrew Lees; Brad F Boeve; Ronald C Petersen; Tanis J Ferman; Valentina Escott-Price; Neill Graff-Radford; Nigel J Cairns; John C Morris; Stuart Pickering-Brown; David Mann; Glenda Halliday; David J Stone; Dennis W Dickson; John Hardy; Andrew Singleton; Rita Guerreiro; Jose Bras
Journal:  Acta Neuropathol Commun       Date:  2020-01-29       Impact factor: 7.801

7.  Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases.

Authors:  Maya Higuma; Nobuo Sanjo; Katsuya Satoh; Yusei Shiga; Kenji Sakai; Ichiro Nozaki; Tsuyoshi Hamaguchi; Yosikazu Nakamura; Tetsuyuki Kitamoto; Susumu Shirabe; Shigeo Murayama; Masahito Yamada; Jun Tateishi; Hidehiro Mizusawa
Journal:  PLoS One       Date:  2013-03-28       Impact factor: 3.240

Review 8.  Genetics of prion diseases.

Authors:  Sarah E Lloyd; Simon Mead; John Collinge
Journal:  Curr Opin Genet Dev       Date:  2013-03-19       Impact factor: 5.578

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
  9 in total

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