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Page 1
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H. Anttonen AK, et al. Among authors: paetau a. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.
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: paetau a. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Among authors: paetau a. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4. Hum Mol Genet. 2013. PMID: 23562820
Leigh syndrome: neuropathology and pathogenesis.
Lake NJ, Bird MJ, Isohanni P, Paetau A. Lake NJ, et al. Among authors: paetau a. J Neuropathol Exp Neurol. 2015 Jun;74(6):482-92. doi: 10.1097/NEN.0000000000000195. J Neuropathol Exp Neurol. 2015. PMID: 25978847 Review.
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.
Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H. Auranen M, et al. Among authors: paetau a. Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066538 Free PMC article.
247 results