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Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB. Fritchie K, et al. Among authors: lehesjoki ae. Acta Neuropathol. 2009 Feb;117(2):201-8. doi: 10.1007/s00401-008-0426-7. Epub 2008 Sep 2. Acta Neuropathol. 2009. PMID: 18762956
Molecular genetics of the NCLs -- status and perspectives.
Siintola E, Lehesjoki AE, Mole SE. Siintola E, et al. Among authors: lehesjoki ae. Biochim Biophys Acta. 2006 Oct;1762(10):857-64. doi: 10.1016/j.bbadis.2006.05.006. Epub 2006 May 27. Biochim Biophys Acta. 2006. PMID: 16828266 Free article. Review.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Among authors: lehesjoki ae. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.
Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M, Hakala P, Pehkonen H, Korpi ER, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki AE. Joensuu T, et al. Among authors: lehesjoki ae. PLoS One. 2014 Feb 27;9(2):e89321. doi: 10.1371/journal.pone.0089321. eCollection 2014. PLoS One. 2014. PMID: 24586687 Free PMC article.
251 results