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1993
2025

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

Year Number of Results
1993 1
1995 1
1997 1
1998 1
2000 1
2001 1
2002 5
2003 3
2004 4
2005 2
2006 1
2007 2
2008 5
2009 8
2010 11
2011 11
2012 11
2013 10
2014 8
2015 16
2016 12
2017 14
2018 25
2019 25
2020 24
2021 26
2022 22
2023 16
2024 3
2025 0

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PubMed for id: 6742

245 results

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Page 1
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Jurkute N, D'Esposito F, Robson AG, Pitceathly RDS, Cordeiro F, Raymond FL, Moore AT, Michaelides M, Yu-Wai-Man P, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):12. doi: 10.1167/iovs.62.15.12. Invest Ophthalmol Vis Sci. 2021. PMID: 34905022 Free PMC article.
Characterization of SSBP1-related optic atrophy and foveopathy.
Meunier I, Bocquet B, Defoort-Dhellemmes S, Smirnov V, Arndt C, Picot MC, Dollfus H, Charif M, Audo I, Huguet H, Zanlonghi X, Lenaers G. Meunier I, et al. Sci Rep. 2021 Sep 21;11(1):18703. doi: 10.1038/s41598-021-98150-1. Sci Rep. 2021. PMID: 34548540 Free PMC article.
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
245 results