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Items: 31

1.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

PMID:
31187502
2.

Mitochondrial DNA variation in sudden cardiac death: a population-based study.

Kytövuori L, Junttila J, Huikuri H, Keinänen-Kiukaanniemi S, Majamaa K, Martikainen MH.

Int J Legal Med. 2019 May 31. doi: 10.1007/s00414-019-02091-4. [Epub ahead of print]

PMID:
31152278
3.

Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Kuusimäki T, Korpela J, Pekkonen E, Martikainen MH, Antonini A, Kaasinen V.

J Neurol. 2019 Jan 18. doi: 10.1007/s00415-019-09181-8. [Epub ahead of print] Review.

PMID:
30659355
4.

The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.

Kytövuori L, Gardberg M, Majamaa K, Martikainen MH.

Brain Behav. 2017 Nov 19;7(12):e00859. doi: 10.1002/brb3.859. eCollection 2017 Dec.

5.

Decreased male reproductive success in association with mitochondrial dysfunction.

Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM.

Eur J Hum Genet. 2017 Oct;25(10):1162-1164. doi: 10.1038/ejhg.2017.114. Epub 2017 Aug 16.

6.

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.

Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L.

Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19.

PMID:
27838048
7.

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Kytövuori L, Lipponen J, Rusanen H, Komulainen T, Martikainen MH, Majamaa K.

J Neurol. 2016 Nov;263(11):2188-2195. Epub 2016 Aug 8.

PMID:
27502083
8.

Spectrum of Movement Disorders in Mitochondrial Disorders-Reply.

Martikainen MH, Burn DJ, Turnbull DM.

JAMA Neurol. 2016 Oct 1;73(10):1254-1255. doi: 10.1001/jamaneurol.2016.2578. No abstract available.

PMID:
27479912
9.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM.

JAMA Neurol. 2016 Jun 1;73(6):668-74. doi: 10.1001/jamaneurol.2016.0355.

PMID:
27111573
10.

Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation.

Martikainen MH, Päivärinta M, Hietala M, Kaasinen V.

Neurol Genet. 2015 Oct 15;1(4):e27. doi: 10.1212/NXG.0000000000000027. eCollection 2015 Dec.

11.

The diagnosis of posterior reversible encephalopathy syndrome.

Ng YS, Gorman GS, Turnbull DM, Martikainen MH.

Lancet Neurol. 2015 Nov;14(11):1073. doi: 10.1016/S1474-4422(15)00253-7. No abstract available.

PMID:
26466774
12.

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.

Martikainen MH, Gorman GS, Goldsmith P, Burn DJ, Turnbull DM, Schaefer AM.

Mov Disord. 2015 Sep;30(10):1432-3. doi: 10.1002/mds.26358. Epub 2015 Aug 12. No abstract available.

13.

[Phenotype and incidence of Creutzfeldt-Jakob disease in Finland in 1997-2013].

Isotalo J, Gardberg M, Verkkoniemi-Ahola A, Paetau A, Martikainen MH, Korpela J, Rummukainen J, Jääskeläinen SK, Parkkola R, Kaasinen V.

Duodecim. 2015;131(5):465-74. Finnish.

PMID:
26237909
14.

Mitochondrial disease: mimics and chameleons.

Martikainen MH, Chinnery PF.

Pract Neurol. 2015 Dec;15(6):424-35. doi: 10.1136/practneurol-2015-001191. Epub 2015 Jul 22. Review.

PMID:
26201977
15.

Association of mitochondrial DNA haplogroups and vascular complications of diabetes mellitus: A population-based study.

Martikainen MH, Rönnemaa T, Majamaa K.

Diab Vasc Dis Res. 2015 Jul;12(4):302-4. doi: 10.1177/1479164115579007. Epub 2015 Apr 28.

PMID:
25920916
16.

Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease.

Martikainen MH, Hohenthal U, Pirilä L, Kemppainen J.

J Inherit Metab Dis. 2014 Sep;37(5):863-4. doi: 10.1007/s10545-014-9685-8. Epub 2014 Feb 20.

PMID:
24554338
17.

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

Martikainen MH, Kytövuori L, Majamaa K.

Neuromuscul Disord. 2014 Apr;24(4):360-4. doi: 10.1016/j.nmd.2014.01.007. Epub 2014 Jan 27.

PMID:
24530046
18.

Detection of human herpesvirus 7 DNA from the CSF in association with neurosarcoidosis.

Martikainen MH, Grönroos JO, Vuorinen T.

J Med Virol. 2013 Nov;85(11):1935-9. doi: 10.1002/jmv.23683. Epub 2013 Jul 12.

PMID:
23852835
19.

Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.

Martikainen MH, Majamaa K.

Neuromuscul Disord. 2013 Nov;23(11):899-901. doi: 10.1016/j.nmd.2013.06.004. Epub 2013 Jul 6.

PMID:
23838279
20.
21.

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

Kytövuori L, Seppänen A, Martikainen MH, Moilanen JS, Kamppari S, Särkioja T, Remes AM, Räsänen P, Rönnemaa T, Majamaa K.

J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18.

PMID:
23595122
22.

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

Martikainen MH, Kytövuori L, Majamaa K.

Mitochondrion. 2013 Mar;13(2):83-6. doi: 10.1016/j.mito.2013.01.012. Epub 2013 Feb 7.

PMID:
23395828
23.

Statin-induced myopathy in a patient with previous poliomyelitis.

Martikainen MH, Gardberg M, Kohonen Ia, Lähdesmäki J.

Am J Phys Med Rehabil. 2013 Nov;92(11):1031-4. doi: 10.1097/PHM.0b013e318282d17e.

PMID:
23370588
24.

Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet.

Martikainen MH, Päivärinta M, Jääskeläinen S, Majamaa K.

Epileptic Disord. 2012 Dec;14(4):438-41. doi: 10.1684/epd.2012.0543.

25.

Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion.

Martikainen MH, Gardberg M, Jansson L, Röyttä M, Rinne JO, Kaasinen V.

Neurocase. 2014 Apr;20(2):150-7. doi: 10.1080/13554794.2012.741252. Epub 2012 Dec 5.

PMID:
23216213
26.

Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.

Martikainen MH, Rönnemaa T, Majamaa K.

Acta Diabetol. 2013 Oct;50(5):737-41. doi: 10.1007/s00592-012-0393-2. Epub 2012 Apr 11.

PMID:
22492248
27.

Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.

Martikainen MH, Hinttala R, Röyttä M, Jääskeläinen S, Wendelin-Saarenhovi M, Parkkola R, Majamaa K.

Neuroepidemiology. 2012;38(2):114-9. doi: 10.1159/000336112. Epub 2012 Feb 24.

PMID:
22377773
28.

Rapid improvement of a complex migrainous episode with sodium valproate in a patient with CADASIL.

Martikainen MH, Roine S.

J Headache Pain. 2012 Jan;13(1):95-7. doi: 10.1007/s10194-011-0400-y. Epub 2011 Nov 8. Review.

29.

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.

Martikainen MH, Hinttala R, Majamaa K.

BMJ Case Rep. 2010 Sep 29;2010. pii: bcr0120102604. doi: 10.1136/bcr.01.2010.2604.

30.

Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland.

Martikainen MH, Majamaa K.

J Neurol. 2010 Feb;257(2):259-63. doi: 10.1007/s00415-009-5305-1.

PMID:
19730927
31.

Suppressed responses to self-triggered sounds in the human auditory cortex.

Martikainen MH, Kaneko K, Hari R.

Cereb Cortex. 2005 Mar;15(3):299-302. Epub 2004 Jul 6.

PMID:
15238430

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