Literature DB >> 23577609

A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment.

K Matsuzono, Y Ikeda, W Liu, T Kurata, S Deguchi, K Deguchi, K Abe.   

Abstract

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Year:  2013        PMID： 23577609     DOI： 10.1111/ene.12089

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  11 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.  Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Authors:  Jamie C Fong; Julio C Rojas; Jee Bang; Andrea Legati; Katherine P Rankin; Sven Forner; Zachary A Miller; Anna M Karydas; Giovanni Coppola; Carrie K Grouse; Jeffrey Ralph; Bruce L Miller; Michael D Geschwind
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

Review 4.  A new prion disease: relationship with central and peripheral amyloidoses.

Authors:  Simon Mead; Mary M Reilly
Journal:  Nat Rev Neurol       Date:  2015-01-27       Impact factor: 42.937

5.  Nonsense mutation in PRNP associated with clinical Alzheimer's disease.

Authors:  Rita Guerreiro; José Brás; Aleksandra Wojtas; Rosa Rademakers; John Hardy; Neill Graff-Radford
Journal:  Neurobiol Aging       Date:  2014-05-27       Impact factor: 4.673

6.  Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.

Authors:  Sabina Capellari; Simone Baiardi; Rita Rinaldi; Anna Bartoletti-Stella; Claudio Graziano; Silvia Piras; Giovanna Calandra-Buonaura; Roberto D'Angelo; Camilla Terziotti; Raffaele Lodi; Vincenzo Donadio; Loris Pironi; Pietro Cortelli; Piero Parchi
Journal:  Ann Clin Transl Neurol       Date:  2018-04-26       Impact factor: 4.511

7.  Dangerous Stops: Nonsense Mutations Can Dramatically Increase Frequency of Prion Conversion.

Authors:  Alexander A Dergalev; Valery N Urakov; Michael O Agaphonov; Alexander I Alexandrov; Vitaly V Kushnirov
Journal:  Int J Mol Sci       Date:  2021-02-03       Impact factor: 5.923

8.  Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation.

Authors:  Andreas C Themistocleous; Robin Kennett; Masud Husain; Jacqueline Palace; Simon Mead; David L H Bennett
Journal:  J Neurol       Date:  2014-10-07       Impact factor: 4.849

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

10.  Evaluating drug targets through human loss-of-function genetic variation.

Authors:  Eric Vallabh Minikel; Konrad J Karczewski; Hilary C Martin; Beryl B Cummings; Nicola Whiffin; Daniel Rhodes; Jessica Alföldi; Richard C Trembath; David A van Heel; Mark J Daly; Stuart L Schreiber; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 49.962
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