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Results by year

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

Year Number of Results
1979 1
1988 1
2011 1
2013 1
2014 3
2015 5
2016 8
2017 6
2018 3
2019 2
2020 5
2021 4
2022 2
2023 0

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PubMed for id: 814744

33 results

Results by year

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Page 1
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Theunissen TE, et al. Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016. Front Neurol. 2016. PMID: 27899912 Free PMC article.
Primary ovarian insufficiency in RMND1 mitochondrial disease.
Boros E, Elilié Mawa Ongoth F, Heinrichs C, Mansbach AL, Seneca S, Aeby A, Ismaïli K, Brachet C. Boros E, et al. Mitochondrion. 2022 Sep;66:51-53. doi: 10.1016/j.mito.2022.07.004. Epub 2022 Jul 25. Mitochondrion. 2022. PMID: 35901949
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
33 results