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A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen AK, Tyynismaa H, Courage C, Lehesjoki AE. Nevanlinna V, et al. Among authors: valanne l. Eur J Med Genet. 2020 Mar;63(3):103766. doi: 10.1016/j.ejmg.2019.103766. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536827
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: valanne l. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
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: valanne l. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.
[Tuberous sclerosis].
Metsähonkala L, Valanne L, Anttonen AK. Metsähonkala L, et al. Among authors: valanne l. Duodecim. 2013;129(17):1779-87. Duodecim. 2013. PMID: 24159711 Review. Finnish.
Frontotemporal pachygyria-two new patients.
Avela K, Toiviainen-Salo S, Karttunen-Lewandowski P, Kauria L, Valanne L, Salonen-Kajander R. Avela K, et al. Among authors: valanne l. Eur J Med Genet. 2012 Dec;55(12):753-7. doi: 10.1016/j.ejmg.2012.09.007. Epub 2012 Sep 27. Eur J Med Genet. 2012. PMID: 23022981
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. Isohanni P, et al. Among authors: valanne l. J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592391
133 results