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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 23
2017 27
2018 21
2019 22
2020 21
2021 21
2022 12
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PubMed Links for id: 4976

326 results
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Page 1
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B. Weisschuh N, et al. PLoS One. 2021 Jul 9;16(7):e0253987. doi: 10.1371/journal.pone.0253987. eCollection 2021. PLoS One. 2021. PMID: 34242285 Free PMC article.
OPA1, a new mitochondrial target in cancer therapy.
Herkenne S, Scorrano L. Herkenne S, et al. Aging (Albany NY). 2020 Nov 13;12(21):20931-20933. doi: 10.18632/aging.104207. Epub 2020 Nov 13. Aging (Albany NY). 2020. PMID: 33216729 Free PMC article. No abstract available.
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
Ahuja AS, Selvam P, Vadlamudi C, Chopra H, Richter JE Jr, Macklin SK, Samreen A, Helmi H, Mohammaad AN, Hines S, Davila MC, Atwal PS, Caulfield TR. Ahuja AS, et al. Ophthalmic Genet. 2020 Dec;41(6):563-569. doi: 10.1080/13816810.2020.1814344. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940104
326 results