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Cerebroretinal microangiopathy with calcifications and cysts.
Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H. Linnankivi T, et al. Among authors: pihko h. Neurology. 2006 Oct 24;67(8):1437-43. doi: 10.1212/01.wnl.0000236999.63933.b0. Epub 2006 Aug 30. Neurology. 2006. PMID: 16943371
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE. Polvi A, et al. Among authors: pihko h. Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387016 Free PMC article.
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: pihko h. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.
Muscle-eye-brain disease: a neuropathological study.
Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivelä T, Tarkkanen A, Tomé F, Engvall E, Santavuori P. Haltia M, et al. Among authors: pihko h. Ann Neurol. 1997 Feb;41(2):173-80. doi: 10.1002/ana.410410208. Ann Neurol. 1997. PMID: 9029066
130 results