Works matching AU Kari Majamaa

Results: 93

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

Published in:

Epileptic Disorders, 2012, v. 14, n. 4, p. 438, doi. 10.1684/epd.2012.0543

By:

Martikainen, Mika;
Päivärinta, Markku;
Jääskeläinen, Satu;
Majamaa, Kari

Publication type:

Article

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.

Published in:

2006

By:

Annunen-Rasila, Johanna;
Finnilä, Saara;
Mykkänen, Kati;
Moilanen, Jukka;
Veijola, Johanna;
Pöyhönen, Minna;
Viitanen, Matti;
Kalimo, Hannu;
Majamaa, Kari

Publication type:

Correction Notice

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.

Published in:

Neurogenetics, 2006, v. 7, n. 3, p. 185, doi. 10.1007/s10048-006-0049-x

By:

Annunen-Rasila, Johanna;
Finnilä, Saara;
Mykkänen, Kati;
Moilanen, Jukka S.;
Veijola, Johanna;
Pöyhönen, Minna;
Viitanen, Matti;
Kalimo, Hannu;
Majamaa, Kari

Publication type:

Article

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

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 1, p. 39, doi. 10.1007/s00414-019-02091-4

By:

Kytövuori, Laura;
Junttila, Juhani;
Huikuri, Heikki;
Keinänen-Kiukaanniemi, Sirkka;
Majamaa, Kari;
Martikainen, Mika H.

Publication type:

Article

Audiological Follow-Up of Children with the m.1555A>G Mutation in Mitochondrial DNA.

Published in:

Audiology & Neurotology, 2012, v. 18, n. 1, p. 23, doi. 10.1159/000342905

By:

Häkli, Sanna;
Luotonen, Mirja;
Sorri, Martti;
Majamaa, Kari

Publication type:

Article

Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk.

Published in:

JAMA Neurology, 2013, v. 70, n. 10, p. 1268, doi. 10.1001/jamaneurol.2013.448

By:

Moskvina, Valentina;
Harold, Denise;
Russo, GianCarlo;
Vedernikov, Alexey;
Sharma, Manu;
Saad, Mohamad;
Holmans, Peter;
Bras, Jose M.;
Bettella, Francesco;
Keller, Margaux F.;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Gibbs, J. Raphael;
Schulte, Claudia;
Durr, Alexandra;
Guerreiro, Rita;
Hernandez, Dena;
Brice, Alexis;
Stefánsson, Hreinn;
Majamaa, Kari

Publication type:

Article

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

Published in:

Case Reports in Neurological Medicine, 2012, p. 1, doi. 10.1155/2012/615721

By:

Paavola, Liisa E.;
Remes, Anne M.;
Sonninen, Pirkko H.;
Kiviniemi, Vesa V.;
Korhonen, Tapio T.;
Majamaa, Kari

Publication type:

Article

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 965, doi. 10.1038/sj.ejhg.5201438

By:

Niemi, Anna-Kaisa;
Majamaa, Kari

Publication type:

Article

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 166, doi. 10.1038/sj.ejhg.5201308

By:

Niemi, Anna-Kaisa;
Moilanen, Jukka S;
Tanaka, Masashi;
Hervonen, Antti;
Hurme, Mikko;
Lehtimäki, Terho;
Arai, Yasumichi;
Hirose, Nobuyoshi;
Majamaa, Kari

Publication type:

Article

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 59, doi. 10.1038/sj.ejhg.5200550

By:

Moilanen, Jukka S;
Majamaa, Kari

Publication type:

Article

Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200455

By:

Lehtonen, Mervi S;
Uimonen, Seija;
Hassinen, Ilmo E;
Majamaa, Kari

Publication type:

Article

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.

Published in:

Journal of Neurology, 2004, v. 251, n. 5, p. 556, doi. 10.1007/s00415-004-0363-x

By:

Kärppä, Mikko;
Mahjneh, Ibrahim;
Karttunen, Ari;
Tolonen, Uolevi;
Majamaa, Kari

Publication type:

Article

Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.

Published in:

Journal of Neurology, 2003, v. 250, n. 2, p. 216, doi. 10.1007/s00415-003-0981-8

By:

Kärppä, Mikko;
Syrjälä, Pirjo;
Tolonen, Uolevi;
Majamaa, Kari

Publication type:

Article

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01059-5

By:

Kaivola, Karri;
Salmi, Samuli J.;
Jansson, Lilja;
Launes, Jyrki;
Hokkanen, Laura;
Niemi, Anna-Kaisa;
Majamaa, Kari;
Lahti, Jari;
Eriksson, Johan G.;
Strandberg, Timo;
Laaksovirta, Hannu;
Tienari, Pentti J.

Publication type:

Article

Cardiovascular autonomic regulation in patients with 3243A>G mitochondrial DNA mutation.

Published in:

Annals of Medicine, 2004, v. 36, n. 3, p. 225, doi. 10.1080/07853890410028456

By:

Majamaa-Voltti, Kirsi;
Majamaa, Kari;
Peuhkurinen, Keijo;
Mäkikallio, Timo H.;
Huikuri, Heikki V.

Publication type:

Article

Genome Wide Assessment of Young Onset Parkinson's Disease from Finland.

Published in:

2012

By:

Hernandez, Dena G.;
Nalls, Michael A.;
Ylikotila, Pauli;
Keller, Margaux;
Hardy, John A.;
Majamaa, Kari;
Singleton, Andrew B.

Publication type:

Case Study

Somatic Point Mutations in mtDNA Control Region Are Influenced by Genetic Background and Associated with Healthy Aging: A GEHA Study.

Published in:

PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013395

By:

Rose, Giuseppina;
Romeo, Giuseppe;
Dato, Serena;
Crocco, Paolina;
Bruni, Amalia C.;
Hervonen, Antti;
Majamaa, Kari;
Sevini, Federica;
Franceschi, Claudio;
Passarino, Giuseppe

Publication type:

Article

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

Published in:

Diabetes & Vascular Disease Research, 2015, v. 12, n. 4, p. 302, doi. 10.1177/1479164115579007

By:

Martikainen, Mika H.;
Rönnemaa, Tapani;
Majamaa, Kari

Publication type:

Article

Molecular epidemiology of hereditary ataxia in Finland.

Published in:

2021

By:

Lipponen, Joonas;
Helisalmi, Seppo;
Raivo, Joose;
Siitonen, Ari;
Doi, Hiroshi;
Rusanen, Harri;
Lehtilahti, Maria;
Ryytty, Mervi;
Laakso, Markku;
Tanaka, Fumiaki;
Majamaa, Kari;
Kytövuori, Laura

Publication type:

journal article

Analysis of functional variants in mitochondrial DNA of Finnish athletes.

Published in:

BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6171-6

By:

Kiiskilä, Jukka;
Moilanen, Jukka S.;
Kytövuori, Laura;
Niemi, Anna-Kaisa;
Majamaa, Kari

Publication type:

Article

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.

Published in:

BMC Cardiovascular Disorders, 2002, v. 2, p. 12, doi. 10.1186/1471-2261-2-12

By:

Majamaa-Voltti, Kirsi;
Peuhkurinen, Keijo;
Kortelainen, Marja-Leena;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

Quantification of Upper Limb Movements in Patients with Hereditary or Idiopathic Ataxia.

Published in:

Cerebellum, 2023, v. 22, n. 6, p. 1182, doi. 10.1007/s12311-022-01485-2

By:

Lipponen, Joonas;
Tiulpin, Aleksei;
Majamaa, Kari;
Rusanen, Harri

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2013, v. 58, n. 8, p. 495, doi. 10.1038/jhg.2013.29

By:

Kytövuori, Laura;
Seppänen, Allan;
Martikainen, Mika H;
Moilanen, Jukka S;
Kamppari, Seija;
Särkioja, Terttu;
Remes, Anne M;
Räsänen, Pirkko;
Rönnemaa, Tapani;
Majamaa, Kari

Publication type:

Article

Craniofacial Morphology in Children of Mothers With the m.3243A>G Mutation in Mitochondrial DNA.

Published in:

Cleft Palate Craniofacial Journal, 2010, v. 47, n. 3, p. 234, doi. 10.1597/08-131.1

By:

Pihlajaniemi, Taija L.;
Pirttiniemi, Pertti;
Uusimaa, Johanna;
Majamaa, Kari

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 562

By:

Holmans, Peter;
Moskvina, Valentina;
Jones, Lesley;
Sharma, Manu;
Vedernikov, Alexey;
Buchel, Finja;
Saad, Mohamad;
Bras, Jose M.;
Bettella, Francesco;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Mittag, Florian;
Gibbs, J. Raphael;
Schulte, Claudia;
Durr, Alexandra;
Guerreiro, Rita;
Hernandez, Dena;
Brice, Alexis;
Stefánsson, Hreinn;
Majamaa, Kari

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1039

By:

Holmans, Peter;
Moskvina, Valentina;
Jones, Lesley;
Sharma, Manu;
Vedernikov, Alexey;
Buchel, Finja;
Sadd, Mohamad;
Bras, Jose M.;
Bettella, Francesco;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Mittag, Florian;
Gibbs, J. Raphael;
Schulte, Claudia;
Durr, Alexandra;
Guerreiro, Rita;
Hernandez, Dena;
Brice, Alexis;
Stefánsson, Hreinn;
Majamaa, Kari

Publication type:

Article

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

Published in:

2018

By:

Kullar, Peter J.;
Gomez-Duran, Aurora;
Gammage, Payam A.;
Garone, Caterina;
Minczuk, Michal;
Golder, Zoe;
Wilson, Janet;
Montoya, Julio;
Häkli, Sanna;
Kärppä, Mikko;
Horvath, Rita;
Majamaa, Kari;
Chinnery, Patrick F.

Publication type:

journal article

Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 12, p. 3274, doi. 10.1093/brain/awp259

By:

Lindroos, Markus M.;
Borra, Ronald J.;
Parkkola, Riitta;
Virtanen, Sami M.;
Lepomäki, Virva;
Bucci, Marco;
Virta, Jere R.;
Rinne, Juha O.;
Nuutila, Pirjo;
Majamaa, Kari

Publication type:

Article

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Published in:

Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1861

By:

Mikko Kärppä;
Riitta Herva;
Ali-Reza Moslemi;
Anders Oldfors;
Sakari Kakko;
Kari Majamaa

Publication type:

Article

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

Published in:

2017

By:

Kytövuori, Laura;
Kärppä, Mikko;
Tuominen, Hannu;
Uusimaa, Johanna;
Saari, Markku;
Hinttala, Reetta;
Majamaa, Kari

Publication type:

journal article

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

Published in:

2016

By:

Sipilä, Jussi O. T.;
Soilu-Hänninen, Merja;
Majamaa, Kari

Publication type:

journal article

Proteome and cytoskeleton responses in osteosarcoma cells with reduced OXPHOS activity.

Published in:

Proteomics, 2007, v. 7, n. 13, p. 2189, doi. 10.1002/pmic.200601031

By:

Annunen-Rasila, Johanna;
Ohlmeier, Steffen;
Tuokko, Hanna;
Veijola, Johanna;
Majamaa, Kari

Publication type:

Article

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

Published in:

Acta Neurochirurgica, 2016, v. 158, n. 8, p. 1487, doi. 10.1007/s00701-016-2845-x

By:

Sipilä, Jussi;
Posti, Jussi;
Majamaa, Kari

Publication type:

Article

Glycosaminoglycans in subdural fluid and CSF after meningeal injury.

Published in:

Acta Neurochirurgica, 2015, v. 157, n. 12, p. 2105, doi. 10.1007/s00701-015-2591-5

By:

Heula, Anna-Leena;
Sajanti, Juha;
Majamaa, Kari

Publication type:

Article

Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 29, doi. 10.1007/s00439-004-1123-9

By:

Autere, Jaana;
Moilanen, Jukka S.;
Finnilä, Saara;
Soininen, Hilkka;
Mannermaa, Arto;
Hartikainen, Päivi;
Hallikainen, Merja;
Majamaa, Kari

Publication type:

Article

Increased variation in mtDNA in patients with familial sensorineural hearing impairment.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 220, doi. 10.1007/s00439-003-0966-9

By:

Lehtonen, Mervi S.;
Moilanen, Jukka S.;
Majamaa, Kari

Publication type:

Article

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 29, doi. 10.1007/s00439-002-0843-y

By:

Niemi, Anna-Kaisa;
Hervonen, Antti;
Hurme, Mikko;
Karhunen, Pekka J.;
Jylhä, Marja;
Majamaa, Kari

Publication type:

Article

Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 284, doi. 10.1007/s004390100475

By:

Uimonen, Seija;
Moilanen, Jukka S.;
Sorri, Martti;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise.

Published in:

BMC Sports Science, Medicine & Rehabilitation, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13102-022-00485-3

By:

Kiiskilä, Jukka M.;
Hassinen, Ilmo E.;
Kettunen, Johannes;
Kytövuori, Laura;
Mikkola, Ilona;
Härkönen, Pirjo;
Jokelainen, Jari J.;
Keinänen-Kiukaanniemi, Sirkka;
Perola, Markus;
Majamaa, Kari

Publication type:

Article

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

Published in:

Scientific Reports, 2016, p. 37125, doi. 10.1038/srep37125

By:

Försti, Anna-Kaisa;
Jokelainen, Jari;
Ansakorpi, Hanna;
Seppänen, Allan;
Majamaa, Kari;
Timonen, Markku;
Tasanen, Kaisa

Publication type:

Article

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 19, p. 2821, doi. 10.1093/hmg/9.19.2821

By:

Kajander, Olli A.;
Rovio, Anja T.;
Majamaa, Kari;
Poulton, Joanna;
Spelbrink, Johannes N.;
Holt, Ian J.;
Karhunen, Pekka J.;
Jacobs, Howard T.

Publication type:

Article

Inhibition of Prolyl Hydroxylation During Collagen Biosynthesis in Human Skin Fibroblast Cultures by Ethyl 3,4-Dihydroxybenzoate.

Published in:

Journal of Investigative Dermatology, 1987, v. 89, n. 4, p. 405, doi. 10.1111/1523-1747.ep12471775

By:

Majamaa, Kari;
Sasaki, Tetsuo;
Uitto, Jouni

Publication type:

Article

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

Published in:

Annals of Neurology, 2007, v. 62, n. 3, p. 278, doi. 10.1002/ana.21196

By:

Uusimaa, Johanna;
Moilanen, Jukka S.;
Vainionpää, Leena;
Tapanainen, Päivi;
Lindholm, Päivi;
Nuutinen, Matti;
Löppönen, Tuija;
Mäki-Torkko, Elina;
Rantala, Heikki;
Majamaa, Kari

Publication type:

Article

Secondary metabolic effects in complex I deficiency.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 544

By:

Nayla Esteitie;
Reetta Hinttala;
Rolf Wibom;
Helene Nilsson;
Nicole Hance;
Karin Naess;
Kristina Teär‐Fahnehjelm;
Ulrika Von Döbeln;
Kari Majamaa;
Nils‐Göran Larsson

Publication type:

Article

Adult‐onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation.

Published in:

Annals of Neurology, 2005, v. 58, n. 2, p. 337

By:

Maria T. Rantamäki;
Heidi K. Soini;
Saara M. Finnilä;
Kari Majamaa;
Bjarne Udd

Publication type:

Article

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Published in:

Annals of Neurology, 2003, v. 54, n. 5, p. 665

By:

Cristina Ugalde;
Ralf H. Triepels;
Marieke J.H. Coenen;
Lambert P. Van Den Heuvel;
Roel Smeets;
Johanna Uusimaa;
Paz Briones;
Jaume Campistol;
Kari Majamaa;
Jan A.M. Smeitink;
Leo G.J. Nijtmans

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 67, doi. 10.1007/s10545-015-9865-1

By:

Lindroos, Markus;
Pärkkä, Jussi;
Taittonen, Markku;
Iozzo, Patricia;
Kärppä, Mikko;
Hassinen, Ilmo;
Knuuti, Juhani;
Nuutila, Pirjo;
Majamaa, Kari

Publication type:

Article

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1205, doi. 10.1007/s10545-011-9338-0

By:

Lindroos, Markus;
Borra, Ronald;
Mononen, Nina;
Lehtimäki, Terho;
Virtanen, Kirsi;
Lepomäki, Virva;
Guiducci, Letizia;
Iozzo, Patricia;
Majamaa, Kari;
Nuutila, Pirjo

Publication type:

Article

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

Published in:

Acta Diabetologica, 2013, v. 50, n. 5, p. 737, doi. 10.1007/s00592-012-0393-2

By:

Martikainen, Mika;
Rönnemaa, Tapani;
Majamaa, Kari

Publication type:

Article

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

Published in:

Brain & Behavior, 2017, v. 7, n. 12, p. n/a, doi. 10.1002/brb3.859

By:

Kytövuori, Laura;
Gardberg, Maria;
Majamaa, Kari;
Martikainen, Mika H.

Publication type:

Article