Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

148 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: creel d. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
Ophthalmologic features of Vici syndrome.
Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ. Filloux FM, et al. J Pediatr Ophthalmol Strabismus. 2014 Jul 1;51(4):214-20. doi: 10.3928/01913913-20140423-02. Epub 2014 Apr 30. J Pediatr Ophthalmol Strabismus. 2014. PMID: 24779424
Visually evoked potentials.
Creel DJ. Creel DJ. Handb Clin Neurol. 2019;160:501-522. doi: 10.1016/B978-0-444-64032-1.00034-5. Handb Clin Neurol. 2019. PMID: 31277872 Review.
An inherited disorder with splenomegaly, cytopenias, and vision loss.
Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, DeAngelis MM, Clayton FC, Vitale AT, Rodgers GM. Tantravahi SK, et al. Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3. Am J Med Genet A. 2012. PMID: 22307799 Free PMC article.
The electrooculogram.
Creel DJ. Creel DJ. Handb Clin Neurol. 2019;160:495-499. doi: 10.1016/B978-0-444-64032-1.00033-3. Handb Clin Neurol. 2019. PMID: 31277871 Review.
Electroretinograms.
Creel DJ. Creel DJ. Handb Clin Neurol. 2019;160:481-493. doi: 10.1016/B978-0-444-64032-1.00032-1. Handb Clin Neurol. 2019. PMID: 31277870 Review.
148 results