Works by Majamaa, Kari

Results: 92

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

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

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

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.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568

By:

Hynynen, Johanna;
Pokka, Tytti;
Komulainen‐Ebrahim, Jonna;
Myllynen, Päivi;
Kärppä, Mikko;
Pylvänen, Laura;
Kälviäinen, Reetta;
Sokka, Arja;
Jyrkilä, Aino;
Lähdetie, Jaana;
Haataja, Leena;
Mäkitalo, Anna;
Ylikotila, Pauli;
Eriksson, Kai;
Haapala, Piia;
Ansakorpi, Hanna;
Hinttala, Reetta;
Vieira, Päivi;
Majamaa, Kari;
Rantala, Heikki

Publication type:

Article

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Published in:

Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x

By:

Uusimaa, Johanna;
Hinttala, Reetta;
Rantala, Heikki;
Päiv&ärinta, Markku;
Herva, Riitta;
Röytt, Matias;
Soini, Heidi;
Moilanen, Jukka S.;
Remes, Anne M.;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.

Published in:

2022

By:

Martikainen, Mika H.;
Suomela, Miika;
Majamaa, Kari

Publication type:

Case Study

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

Sequence Variation in the tRNA Genes of Human Mitochondrial DNA.

Published in:

Journal of Molecular Evolution, 2005, v. 60, n. 5, p. 587, doi. 10.1007/s00239-003-0202-1

By:

Vilmi, Tiina;
Moilanen, Jukka S.;
Finnilä, Saara;
Majamaa, Kari;
Cerff, Rüdiger

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

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

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

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

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

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

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

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 10, p. 786, doi. 10.1007/s00109-005-0712-y

By:

Hinttala, Reetta;
Uusimaa, Johanna;
Remes, Anne M.;
Rantala, Heikki;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.

Published in:

Journal of Molecular Medicine, 2001, v. 79, n. 11, p. 641, doi. 10.1007/s001090100268

By:

Finnilä, Saara;
Tuisku, Seppo;
Herva, Riitta;
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

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

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8

By:

Soini, Heidi K.;
Väisänen, Antti;
Kärppä, Mikko;
Hinttala, Reetta;
Kytövuori, Laura;
Moilanen, Jukka S.;
Uusimaa, Johanna;
Majamaa, Kari

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0145-6

By:

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

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-73

By:

Soini, Heidi K.;
Moilanen, Jukka S.;
Vilmi-Kerälä, Tiina;
Finnilä, Saara;
Majamaa, Kari

Publication type:

Article

Status epilepticus in POLG disease: a large multinational study.

Published in:

Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
de Coo, Irenaeus;
Pias-Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Majamaa, Kari;
Kärppä, Mikko;
Ortigoza-Escobar, Juan Dario;
Tangeraas, Trine;
Berland, Siren;
Harrison, Emma;
Biggs, Heather;
Horvath, Rita;
Darin, Niklas

Publication type:

Article

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

Published in:

Journal of Neurology, 2017, v. 264, n. 10, p. 2095, doi. 10.1007/s00415-017-8600-2

By:

Sipilä, Jussi;
Kauko, Tommi;
Päivärinta, Markku;
Majamaa, Kari

Publication type:

Article

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

Published in:

Journal of Neurology, 2016, v. 263, n. 11, p. 2188, doi. 10.1007/s00415-016-8249-2

By:

Kytövuori, Laura;
Lipponen, Joonas;
Rusanen, Harri;
Komulainen, Tuomas;
Martikainen, Mika;
Majamaa, Kari

Publication type:

Article

Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.

Published in:

Journal of Neurology, 2013, v. 260, n. 8, p. 2078, doi. 10.1007/s00415-013-6940-0

By:

Martikainen, Mika;
Ellfolk, Ulla;
Majamaa, Kari

Publication type:

Article

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

Published in:

Journal of Neurology, 2012, v. 259, n. 8, p. 1585, doi. 10.1007/s00415-011-6382-5

By:

Marttila, Maria;
Rautenstrauss, Bernd;
Huehne, Kathrin;
Laitinen, Virpi;
Majamaa, Kari;
Kärppä, Mikko

Publication type:

Article

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

Published in:

Journal of Neurology, 2010, v. 257, n. 2, p. 259, doi. 10.1007/s00415-009-5305-1

By:

Martikainen, Mika H.;
Majamaa, Kari

Publication type:

Article

Procollagen propeptides in chronic subdural hematoma reveal sustained dural collagen synthesis after head injury.

Published in:

Journal of Neurology, 2009, v. 256, n. 1, p. 66, doi. 10.1007/s00415-009-0048-6

By:

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

Publication type:

Article

Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson's disease.

Published in:

Journal of Patient-Reported Outcomes, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41687-024-00746-4

By:

Keränen, Maija-Helena;
Kytövuori, Laura;
Huhtakangas, Juha;
Kärppä, Mikko;
Majamaa, Kari

Publication type:

Article

Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55479-y

By:

Siitonen, Ari;
Kytövuori, Laura;
Nalls, Mike A.;
Gibbs, Raphael;
Hernandez, Dena G.;
Ylikotila, Pauli;
Peltonen, Markku;
Singleton, Andrew B.;
Majamaa, Kari

Publication type:

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

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Published in:

BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29

By:

Komulainen, Tuomas;
Hinttala, Reetta;
Kärppä, Mikko;
Pajunen, Leila;
Finnilä, Saara;
Tuominen, Hannu;
Rantala, Heikki;
Hassinen, Ilmo;
Majamaa, Kari;
Uusimaa, Johanna

Publication type:

Article

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.

Published in:

2008

By:

Kaivorinne, Anna-Lotta;
Krüger, Johanna;
Kuivaniemi, Katja;
Tuominen, Hannu;
Moilanen, Virpi;
Majamaa, Kari;
Remes, Anne M

Publication type:

journal 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

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

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

Lineage-Specific Selection in Human mtDNA: Lack of Polymorphisms in a Segment of MTND5 Gene in Haplogroup J.

Published in:

Molecular Biology & Evolution, 2003, v. 20, n. 12, p. 2132, doi. 10.1093/molbev/msg230

By:

Moilanen, Jukka S.;
Finnila, Saarä;
Majamaa, Kari

Publication type:

Article

Phylogenetic Network and Physicochemical Properties of Nonsynonymous Mutations in the Protein-Coding Genes of Human Mitochondrial DNA.

Published in:

Molecular Biology & Evolution, 2003, v. 20, n. 8, p. 1195, doi. 10.1093/molbev/msg121

By:

Moilanen, Jukka S.;
Majamaa, Kari

Publication type:

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