Literature DB >> 21410375

Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline.

Katherine B Sims1, Andrew J Cole, Janet C Sherman, Paul A Caruso, Matija Snuderl.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21410375     DOI： 10.1056/NEJMcpc1013927

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  5 in total

1.  Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Authors:  Lenka Nosková; Viktor Stránecký; Hana Hartmannová; Anna Přistoupilová; Veronika Barešová; Robert Ivánek; Helena Hůlková; Helena Jahnová; Julie van der Zee; John F Staropoli; Katherine B Sims; Jaana Tyynelä; Christine Van Broeckhoven; Peter C G Nijssen; Sara E Mole; Milan Elleder; Stanislav Kmoch
Journal:  Am J Hum Genet       Date:  2011-08-04       Impact factor: 11.025

2.  Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Authors:  Michael X Henderson; Gregory S Wirak; Yong-Quan Zhang; Feng Dai; Stephen D Ginsberg; Natalia Dolzhanskaya; John F Staropoli; Peter C G Nijssen; TuKiet T Lam; Amy F Roth; Nicholas G Davis; Glyn Dawson; Milen Velinov; Sreeganga S Chandra
Journal:  Acta Neuropathol       Date:  2015-12-10       Impact factor: 17.088

3.  Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Authors:  Bruno A Benitez; David Alvarado; Yefei Cai; Kevin Mayo; Sumitra Chakraverty; Joanne Norton; John C Morris; Mark S Sands; Alison Goate; Carlos Cruchaga
Journal:  PLoS One       Date:  2011-11-04       Impact factor: 3.240

4.  Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Authors:  Milen Velinov; Natalia Dolzhanskaya; Michael Gonzalez; Eric Powell; Ioanna Konidari; William Hulme; John F Staropoli; Winnie Xin; Guang Y Wen; Rosemary Barone; Scott H Coppel; Katherine Sims; W Ted Brown; Stephan Züchner
Journal:  PLoS One       Date:  2012-01-03       Impact factor: 3.240

5.  Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.

Authors:  Julien Donnelier; Samuel T Braun; Natalia Dolzhanskaya; Eva Ahrendt; Andrew P Braun; Milen Velinov; Janice E A Braun
Journal:  PLoS One       Date:  2015-04-23       Impact factor: 3.240
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.