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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 2
2000 1
2002 3
2003 2
2004 2
2005 5
2006 2
2007 11
2008 6
2009 4
2010 6
2011 7
2012 11
2013 14
2014 10
2015 14
2016 12
2017 8
2018 8
2019 4
2020 4
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Similar Articles for PMID: 26482670

112 results
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Page 1
Severe Central Sleep Apnea in Vici Syndrome.
El-Kersh K, Jungbluth H, Gringras P, Senthilvel E. El-Kersh K, et al. Pediatrics. 2015 Nov;136(5):e1390-4. doi: 10.1542/peds.2015-0297. Epub 2015 Oct 19. Pediatrics. 2015. PMID: 26482670
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. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.
Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D. Kane MS, et al. Neuropediatrics. 2019 Aug;50(4):257-261. doi: 10.1055/s-0039-1692129. Epub 2019 Jun 21. Neuropediatrics. 2019. PMID: 31226715
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H. Touraine R, et al. Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748650
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN. Ehmke N, et al. Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20. Am J Med Genet A. 2014. PMID: 25331754 Review.
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.
Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, Alharbi A. Abidi KT, et al. Medicine (Baltimore). 2020 Oct 23;99(43):e22302. doi: 10.1097/MD.0000000000022302. Medicine (Baltimore). 2020. PMID: 33120733 Free PMC article. Review.
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Byrne S, et al. Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Orphanet J Rare Dis. 2016. PMID: 26927810 Free PMC article. Review.
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