Ylikallio E - Search Results

1

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.

Ylikallio E, Rahikkala E, Keski-Filppula R, Auranen M, Tyynismaa H. Ylikallio E, et al. Duodecim. 2017;133(7):683-7. Duodecim. 2017. PMID: 29243459

2

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A. Tyynismaa H, et al. Among authors: ylikallio e. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. doi: 10.1073/pnas.0505551102. Epub 2005 Nov 21. Proc Natl Acad Sci U S A. 2005. PMID: 16301523 Free PMC article.

3

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. Tyynismaa H, et al. Among authors: ylikallio e. Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664747 Free PMC article.

4

High mitochondrial DNA copy number has detrimental effects in mice.

Ylikallio E, Tyynismaa H, Tsutsui H, Ide T, Suomalainen A. Ylikallio E, et al. Hum Mol Genet. 2010 Jul 1;19(13):2695-705. doi: 10.1093/hmg/ddq163. Epub 2010 Apr 22. Hum Mol Genet. 2010. PMID: 20413656

5

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H. Auranen M, et al. Among authors: ylikallio e. Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3. Neurogenetics. 2013. PMID: 23456260

6

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. 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

7

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H. Ylikallio E, et al. Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963299 Free PMC article.

8

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14. Eur J Hum Genet. 2015. PMID: 25585697 Free PMC article.

9

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: ylikallio e. Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115735 Free PMC article.

10

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Pasanen P, Myllykangas L, Pöyhönen M, Kiuru-Enari S, Tienari PJ, Laaksovirta H, Toppila J, Ylikallio E, Tyynismaa H, Auranen M. Pasanen P, et al. Among authors: ylikallio e. Acta Neurol Scand. 2016 May;133(5):361-6. doi: 10.1111/ane.12470. Epub 2015 Jul 30. Acta Neurol Scand. 2016. PMID: 26224640

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