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Items: 25

1.

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Sainio MT, Ylikallio E, Mäenpää L, Lahtela J, Mattila P, Auranen M, Palmio J, Tyynismaa H.

Neurol Genet. 2018 Jun 5;4(3):e244. doi: 10.1212/NXG.0000000000000244. eCollection 2018 Jun.

2.

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.

Duodecim. 2017;133(7):683-7.

PMID:
29243459
3.

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Auranen M, Toppila J, Suriyanarayanan S, Lone MA, Paetau A, Tyynismaa H, Hornemann T, Ylikallio E.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002212. doi: 10.1101/mcs.a002212. Print 2017 Nov.

4.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
5.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H.

Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042.

6.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S.

J Neuromuscul Dis. 2016 Nov 29;3(4):475-485.

PMID:
27911336
7.

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B.

J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3. No abstract available.

PMID:
27810918
8.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Piirilä P, Similä ME, Palmio J, Wuorimaa T, Ylikallio E, Sandell S, Haapalahti P, Uotila L, Tyynismaa H, Udd B, Auranen M.

Front Neurol. 2016 May 30;7:82. doi: 10.3389/fneur.2016.00082. eCollection 2016.

9.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B.

Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

10.

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.

Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun.

11.

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

Ylikallio E, Konovalova S, Dhungana Y, Hilander T, Junna N, Partanen JV, Toppila JP, Auranen M, Tyynismaa H.

BBA Clin. 2015 Mar 11;3:233-42. doi: 10.1016/j.bbacli.2015.03.002. eCollection 2015 Jun.

12.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E.

Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16.

PMID:
26573920
13.

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.

Acta Neurol Scand. 2016 May;133(5):361-6. doi: 10.1111/ane.12470. Epub 2015 Jul 30.

PMID:
26224640
14.

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.

Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26.

15.

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.

Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.

16.

[The many faces of neurosyphilis].

Ylikallio E, Heikinheimo T, Anttila VJ, Palomäki M, Pekkonen E.

Duodecim. 2014;130(6):589-93. Review. Finnish.

PMID:
24724458
17.

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.

Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21.

18.

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.

PLoS One. 2013 Jun 28;8(6):e67642. doi: 10.1371/journal.pone.0067642. Print 2013.

19.

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.

Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.

PMID:
23562820
20.

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.

Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.

PMID:
23456260
21.

Mechanisms of mitochondrial diseases.

Ylikallio E, Suomalainen A.

Ann Med. 2012 Feb;44(1):41-59. doi: 10.3109/07853890.2011.598547. Epub 2011 Aug 2.

PMID:
21806499
22.

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.

Nucleic Acids Res. 2010 Dec;38(22):8208-18. doi: 10.1093/nar/gkq735. Epub 2010 Aug 19.

23.

High mitochondrial DNA copy number has detrimental effects in mice.

Ylikallio E, Tyynismaa H, Tsutsui H, Ide T, Suomalainen A.

Hum Mol Genet. 2010 Jul 1;19(13):2695-705. doi: 10.1093/hmg/ddq163. Epub 2010 Apr 22.

PMID:
20413656
24.

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.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

25.

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.

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. Epub 2005 Nov 21.

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