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Items: 1 to 50 of 191

1.

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
2.

HTT haplogroups in Finnish patients with Huntington disease.

Ylönen S, Sipilä JOT, Hietala M, Majamaa K.

Neurol Genet. 2019 Apr 22;5(3):e334. doi: 10.1212/NXG.0000000000000334. eCollection 2019 Jun.

3.

Prehospital and hospital delays for stroke patients treated with thrombolysis: A retrospective study from mixed rural-urban area in Northern Finland.

Varjoranta T, Raatiniemi L, Majamaa K, Martikainen M, Liisanantti JH.

Australas Emerg Care. 2019 Jun;22(2):76-80. doi: 10.1016/j.auec.2019.01.008. Epub 2019 Feb 22.

PMID:
31042530
4.

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J; 23andMe Research Team, Eerola-Rautio J, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC).

Mov Disord. 2019 Jun;34(6):866-875. doi: 10.1002/mds.27659. Epub 2019 Apr 7.

PMID:
30957308
5.

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.

Hynynen J, Pokka T, Komulainen-Ebrahim J, Myllynen P, Kärppä M, Pylvänen L, Kälviäinen R, Sokka A, Jyrkilä A, Lähdetie J, Haataja L, Mäkitalo A, Ylikotila P, Eriksson K, Haapala P, Ansakorpi H, Hinttala R, Vieira P, Majamaa K, Rantala H, Uusimaa J.

Epilepsia. 2018 Nov;59(11):2125-2136. doi: 10.1111/epi.14568. Epub 2018 Sep 26.

PMID:
30255931
6.

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

Kärppä M, Kytövuori L, Saari M, Majamaa K.

BMC Neurol. 2018 Sep 20;18(1):149. doi: 10.1186/s12883-018-1159-4.

7.

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.

8.

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K, Chinnery PF.

Brain. 2018 Jan 1;141(1):55-62. doi: 10.1093/brain/awx295.

9.

Genetic risk factors in Finnish patients with Parkinson's disease.

Ylönen S, Siitonen A, Nalls MA, Ylikotila P, Autere J, Eerola-Rautio J, Gibbs R, Hiltunen M, Tienari PJ, Soininen H, Singleton AB, Majamaa K.

Parkinsonism Relat Disord. 2017 Dec;45:39-43. doi: 10.1016/j.parkreldis.2017.09.021. Epub 2017 Sep 29.

10.

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.

Kytövuori L, Hannula S, Mäki-Torkko E, Sorri M, Majamaa K.

Hear Res. 2017 Nov;355:97-101. doi: 10.1016/j.heares.2017.09.013. Epub 2017 Sep 28.

PMID:
28974383
11.

Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients.

Sipilä JOT, Kauko T, Päivärinta M, Majamaa K.

J Neurol. 2017 Oct;264(10):2095-2100. doi: 10.1007/s00415-017-8600-2. Epub 2017 Aug 28.

PMID:
28849405
12.

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.

Marttila M, Kytövuori L, Helisalmi S, Kallio M, Laitinen M, Hiltunen M, Kärppä M, Majamaa K.

Neuroepidemiology. 2017;49(1-2):34-39. doi: 10.1159/000478860. Epub 2017 Aug 16.

PMID:
28810241
13.

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

Kytövuori L, Kärppä M, Tuominen H, Uusimaa J, Saari M, Hinttala R, Majamaa K.

BMC Neurol. 2017 May 18;17(1):96. doi: 10.1186/s12883-017-0883-5.

14.

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study.

Siitonen A, Nalls MA, Hernández D, Gibbs JR, Ding J, Ylikotila P, Edsall C, Singleton A, Majamaa K.

Neurobiol Aging. 2017 May;53:195.e7-195.e10. doi: 10.1016/j.neurobiolaging.2017.01.019. Epub 2017 Feb 2.

15.

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.

Soini HK, Väisänen A, Kärppä M, Hinttala R, Kytövuori L, Moilanen JS, Uusimaa J, Majamaa K.

BMC Med Genet. 2017 Feb 10;18(1):14. doi: 10.1186/s12881-017-0377-8.

16.

Psychiatric and neurological disorders are associated with bullous pemphigoid - a nationwide Finnish Care Register study.

Försti AK, Jokelainen J, Ansakorpi H, Seppänen A, Majamaa K, Timonen M, Tasanen K.

Sci Rep. 2016 Nov 15;6:37125. doi: 10.1038/srep37125.

17.

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
18.

Chronic subdural hematomas in Finnish patients with Huntington's disease.

Sipilä JO, Posti JP, Majamaa K.

Acta Neurochir (Wien). 2016 Aug;158(8):1487-90. doi: 10.1007/s00701-016-2845-x. Epub 2016 Jun 6.

PMID:
27272892
19.

Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.

Sipilä JO, Soilu-Hänninen M, Majamaa K.

BMC Neurol. 2016 Feb 10;16:24. doi: 10.1186/s12883-016-0545-z.

20.

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

Widgren P, Hurme A, Falck A, Keski-Filppula R, Remes AM, Moilanen J, Majamaa K, Kervinen M, Uusimaa J.

Acta Ophthalmol. 2016 Feb;94(1):83-91. doi: 10.1111/aos.12897. Epub 2015 Oct 8.

21.

Glycosaminoglycans in subdural fluid and CSF after meningeal injury.

Heula AL, Sajanti J, Majamaa K.

Acta Neurochir (Wien). 2015 Dec;157(12):2105-10; discussion 2110. doi: 10.1007/s00701-015-2591-5. Epub 2015 Sep 30.

PMID:
26424088
22.

Epidemiology of stroke in Finnish patients with Huntington's disease.

Sipilä JO, Majamaa K.

Acta Neurol Scand. 2016 Jul;134(1):61-6. doi: 10.1111/ane.12512. Epub 2015 Sep 25.

PMID:
26403692
23.

A 13-year follow-up of Finnish patients with Salla disease.

Paavola LE, Remes AM, Harila MJ, Varho TT, Korhonen TT, Majamaa K.

J Neurodev Disord. 2015;7(1):20. doi: 10.1186/s11689-015-9116-7. Epub 2015 Jul 13.

24.

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

Lindroos MM, Pärkkä JP, Taittonen MT, Iozzo P, Kärppä M, Hassinen IE, Knuuti J, Nuutila P, Majamaa K.

J Inherit Metab Dis. 2016 Jan;39(1):67-74. doi: 10.1007/s10545-015-9865-1. Epub 2015 Jun 26.

PMID:
26112752
25.

Epidemiology of early-onset Parkinson's disease in Finland.

Ylikotila P, Tiirikka T, Moilanen JS, Kääriäinen H, Marttila R, Majamaa K.

Parkinsonism Relat Disord. 2015 Aug;21(8):938-42. doi: 10.1016/j.parkreldis.2015.06.003. Epub 2015 Jun 4.

PMID:
26071818
26.

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

Komulainen T, Hautakangas MR, Hinttala R, Pakanen S, Vähäsarja V, Lehenkari P, Olsen P, Vieira P, Saarenpää-Heikkilä O, Palmio J, Tuominen H, Kinnunen P, Majamaa K, Rantala H, Uusimaa J.

JIMD Rep. 2015;23:91-100. doi: 10.1007/8904_2015_438. Epub 2015 May 5.

27.

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
28.

Effects of pathogenic mutations in membrane subunits of mitochondrial Complex I on redox activity and proton translocation studied by modeling in Escherichia coli.

Pätsi J, Kervinen M, Kytövuori L, Majamaa K, Hassinen IE.

Mitochondrion. 2015 May;22:23-30. doi: 10.1016/j.mito.2015.02.007. Epub 2015 Mar 5.

PMID:
25747201
29.

Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.

Häkli S, Luotonen M, Sorri M, Majamaa K.

BMC Med Genet. 2015 Feb 4;16:3. doi: 10.1186/s12881-015-0145-6.

30.

Epidemiology of Huntington's disease in Finland.

Sipilä JO, Hietala M, Siitonen A, Päivärinta M, Majamaa K.

Parkinsonism Relat Disord. 2015 Jan;21(1):46-9. doi: 10.1016/j.parkreldis.2014.10.025. Epub 2014 Nov 3.

PMID:
25466405
31.

[Investments of research and treatment of brain diseases will pay of time].

Lindsberg PJ, Castrén E, Korkeila J, Alho H, Erkinjuntti T, Isometsä E, Kalso E, Marttunen M, Pihko H, Tienari P, Wartiovaara A, Jäkälä P, Kälviäinen R, Soininen H, Tiihonen J, Karlsson H, Rinne J, Roine RO, Elovaara I, Tamminen T, Ohman J, Majamaa K, Hari R.

Duodecim. 2014;130(17):1721-30. Review. Finnish.

PMID:
25272783
32.

Childhood hearing impairment in northern Finland, etiology and additional disabilities.

Häkli S, Luotonen M, Bloigu R, Majamaa K, Sorri M.

Int J Pediatr Otorhinolaryngol. 2014 Nov;78(11):1852-6. doi: 10.1016/j.ijporl.2014.08.007. Epub 2014 Aug 17.

PMID:
25193587
33.

Response to Dobie.

Hannula S, Bloigu R, Majamaa K, Sorri M, Mäki-Torkko E.

J Am Acad Audiol. 2014 Apr;25(4):415. No abstract available.

PMID:
25126689
34.

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

Hynynen J, Komulainen T, Tukiainen E, Nordin A, Arola J, Kälviäinen R, Jutila L, Röyttä M, Hinttala R, Majamaa K, Mäkisalo H, Uusimaa J.

Liver Transpl. 2014 Nov;20(11):1402-12. doi: 10.1002/lt.23965. Epub 2014 Oct 3.

35.

WFS1 mutations in hearing-impaired children.

Häkli S, Kytövuori L, Luotonen M, Sorri M, Majamaa K.

Int J Audiol. 2014 Jul;53(7):446-51. doi: 10.3109/14992027.2014.887230. Epub 2014 Mar 10.

PMID:
24909696
36.

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
37.

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific.

Raule N, Sevini F, Li S, Barbieri A, Tallaro F, Lomartire L, Vianello D, Montesanto A, Moilanen JS, Bezrukov V, Blanché H, Hervonen A, Christensen K, Deiana L, Gonos ES, Kirkwood TB, Kristensen P, Leon A, Pelicci PG, Poulain M, Rea IM, Remacle J, Robine JM, Schreiber S, Sikora E, Eline Slagboom P, Spazzafumo L, Antonietta Stazi M, Toussaint O, Vaupel JW, Rose G, Majamaa K, Perola M, Johnson TE, Bolund L, Yang H, Passarino G, Franceschi C.

Aging Cell. 2014 Jun;13(3):401-7. doi: 10.1111/acel.12186. Epub 2013 Dec 17. Erratum in: Aging Cell. 2015 Oct;14(5):919.

38.

Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.

Ylönen S, Ylikotila P, Siitonen A, Finnilä S, Autere J, Majamaa K.

J Neurol. 2013 Dec;260(12):3144-9.

PMID:
24122062
39.

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.

Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood N, Martinez M, Singleton AB, Nalls MA, Hardy J, Owen MJ, O'Donovan MC, Williams J, Morris HR, Williams NM; IPDGC and GERAD Investigators.

JAMA Neurol. 2013 Oct;70(10):1268-76.

40.

Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.

Soini HK, Moilanen JS, Vilmi-Kerälä T, Finnilä S, Majamaa K.

BMC Med Genet. 2013 Jul 19;14:73. doi: 10.1186/1471-2350-14-73.

41.

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
42.

New treatments for mitochondrial disease-no time to drop our standards.

Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF.

Nat Rev Neurol. 2013 Aug;9(8):474-81. doi: 10.1038/nrneurol.2013.129. Epub 2013 Jul 2. Review.

43.
44.

Characterization of chronic subdural hematoma fluid proteome.

Heula AL, Ohlmeier S, Sajanti J, Majamaa K.

Neurosurgery. 2013 Aug;73(2):317-31. doi: 10.1227/01.neu.0000430323.24623.de.

PMID:
23632762
45.

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
46.

Mutations in EIF4G1 are not a common cause of Parkinson's disease.

Siitonen A, Majounie E, Federoff M, Ding J, Majamaa K, Singleton AB.

Eur J Neurol. 2013 Apr;20(4):e59. doi: 10.1111/ene.12051. No abstract available.

PMID:
23490116
47.

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
48.

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.

49.

An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.

Paavola LE, Remes AM, Sonninen PH, Kiviniemi VV, Korhonen TT, Majamaa K.

Case Rep Neurol Med. 2012;2012:615721. doi: 10.1155/2012/615721. Epub 2012 Nov 22.

50.

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

Holmans P, Moskvina V, Jones L, Sharma M; International Parkinson's Disease Genomics Consortium, Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM.

Hum Mol Genet. 2013 Mar 1;22(5):1039-49. doi: 10.1093/hmg/dds492. Epub 2012 Dec 7. Erratum in: Hum Mol Genet. 2014 Jan 15;23(2):562. Sadd, Mohamad [corrected to Saad, Mohamad].

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