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

Year Number of Results
2008 3
2009 1
2010 1
2011 2
2012 3
2013 1
2016 1
2017 2
2019 1
2020 2
2021 3
2023 2
2024 1

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Page 1
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
Hedberg-Oldfors C, Mitra S, Molinaro A, Visuttijai K, Fogelstrand L, Oldfors A, Sterky FH, Darin N. Hedberg-Oldfors C, et al. Among authors: sterky fh. Eur J Hum Genet. 2023 Aug;31(8):887-894. doi: 10.1038/s41431-023-01327-7. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935417 Free PMC article.
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH. Sofou K, et al. Among authors: sterky fh. EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3. EMBO Mol Med. 2021. PMID: 33938619 Free PMC article.
Liprin-α proteins are master regulators of human presynapse assembly.
Marcó de la Cruz B, Campos J, Molinaro A, Xie X, Jin G, Wei Z, Acuna C, Sterky FH. Marcó de la Cruz B, et al. Among authors: sterky fh. Nat Neurosci. 2024 Mar 12. doi: 10.1038/s41593-024-01592-9. Online ahead of print. Nat Neurosci. 2024. PMID: 38472649
Lrrk2 and alpha-synuclein are co-regulated in rodent striatum.
Westerlund M, Ran C, Borgkvist A, Sterky FH, Lindqvist E, Lundströmer K, Pernold K, Brené S, Kallunki P, Fisone G, Olson L, Galter D. Westerlund M, et al. Among authors: sterky fh. Mol Cell Neurosci. 2008 Dec;39(4):586-91. doi: 10.1016/j.mcn.2008.08.001. Epub 2008 Aug 27. Mol Cell Neurosci. 2008. PMID: 18790059
19 results