Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
My NCBI Filters
Results by year

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

Year Number of Results
1993 2
1998 2
1999 1
2000 2
2001 4
2002 8
2003 10
2004 9
2005 11
2006 14
2007 21
2008 15
2009 13
2010 25
2011 22
2012 19
2013 20
2014 13
2015 18
2016 21
2017 27
2018 20
2019 13
2020 0
Text availability
Article attribute
Article type
Publication date

gene_pubmed for PMID: 4976

268 results
Results by year
Filters applied: . Clear all
Page 1
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Maeda-Katahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K. Maeda-Katahira A, et al. Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019. Mol Vis. 2019. PMID: 31673222 Free PMC article.
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.
Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C. Del Dotto V, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3496-3514. doi: 10.1016/j.bbadis.2018.08.004. Epub 2018 Aug 4. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30293569 Free article.
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, Chen R, Dong F, Sui R. Li H, et al. Ophthalmic Genet. 2018 Oct;39(5):569-576. doi: 10.1080/13816810.2018.1466337. Epub 2018 Jun 28. Ophthalmic Genet. 2018. PMID: 29952689 Free PMC article.
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.
Jonikas M, Madill M, Mathy A, Zekoll T, Zois CE, Wigfield S, Kurzawa-Akanbi M, Browne C, Sims D, Chinnery PF, Cowley SA, Tofaris GK. Jonikas M, et al. Ann Neurol. 2018 May;83(5):915-925. doi: 10.1002/ana.25221. Epub 2018 Apr 25. Ann Neurol. 2018. PMID: 29604226 Free PMC article.
OPA1: How much do we know to approach therapy?
Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C. Del Dotto V, et al. Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Pharmacol Res. 2018. PMID: 29454676 Review.
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.
Sarzi E, Seveno M, Piro-Mégy C, Elzière L, Quilès M, Péquignot M, Müller A, Hamel CP, Lenaers G, Delettre C. Sarzi E, et al. Sci Rep. 2018 Feb 6;8(1):2468. doi: 10.1038/s41598-018-20838-8. Sci Rep. 2018. PMID: 29410463 Free PMC article.
Eight human OPA1 isoforms, long and short: What are they for?
Del Dotto V, Fogazza M, Carelli V, Rugolo M, Zanna C. Del Dotto V, et al. Biochim Biophys Acta Bioenerg. 2018 Apr;1859(4):263-269. doi: 10.1016/j.bbabio.2018.01.005. Epub 2018 Jan 31. Biochim Biophys Acta Bioenerg. 2018. PMID: 29382469 Free article. Review.
A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.
Schnieders MJ, Goar W, Griess M, Roos BR, Scheetz TE, Stone EM, Fingert JH. Schnieders MJ, et al. Eye (Lond). 2018 Apr;32(4):843-845. doi: 10.1038/eye.2017.303. Epub 2018 Jan 19. Eye (Lond). 2018. PMID: 29350691 Free PMC article. No abstract available.
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A. Pretegiani E, et al. J Neurol Sci. 2017 Nov 15;382:29-35. doi: 10.1016/j.jns.2017.09.018. Epub 2017 Sep 14. J Neurol Sci. 2017. PMID: 29111013
268 results
Jump to page
Feedback