Ylikallio E - Search Results

1

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.

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

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

4

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.

Ylikallio E, Page JL, Xu X, Lampinen M, Bepler G, Ide T, Tyynismaa H, Weiss RS, Suomalainen A. Ylikallio E, et al. Nucleic Acids Res. 2010 Dec;38(22):8208-18. doi: 10.1093/nar/gkq735. Epub 2010 Aug 19. Nucleic Acids Res. 2010. PMID: 20724444 Free PMC article.

5

Mechanisms of mitochondrial diseases.

Ylikallio E, Suomalainen A. Ylikallio E, et al. Ann Med. 2012 Feb;44(1):41-59. doi: 10.3109/07853890.2011.598547. Epub 2011 Aug 2. Ann Med. 2012. PMID: 21806499 Free article.

6

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

7

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

8

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice.

Tanaka A, Ide T, Fujino T, Onitsuka K, Ikeda M, Takehara T, Hata Y, Ylikallio E, Tyynismaa H, Suomalainen A, Sunagawa K. Tanaka A, et al. Among authors: ylikallio e. PLoS One. 2013 Jun 28;8(6):e67642. doi: 10.1371/journal.pone.0067642. Print 2013. PLoS One. 2013. PMID: 23840758 Free PMC article.

9

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.

10

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.

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