Works matching AU Majamaa, Kari

Results: 93

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

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

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

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

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

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

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

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

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

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

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.

Published in:

BMC Research Notes, 2012, v. 5, n. 1, p. 350, doi. 10.1186/1756-0500-5-350

By:

Soini, Heidi K;
Moilanen, Jukka S;
Finnila, Saara;
Majamaa, Kari

Publication type:

Article

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

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. 83, doi. 10.1111/aos.12897

By:

Widgren, Paula;
Hurme, Anri;
Falck, Aura;
Keski ‐ Filppula, Riikka;
Remes, Anne M;
Moilanen, Jukka;
Majamaa, Kari;
Kervinen, Marko;
Uusimaa, Johanna

Publication type:

Article

Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.

Published in:

Acta Ophthalmologica (1755375X), 2013, v. 91, n. 7, p. 630, doi. 10.1111/j.1755-3768.2012.02506.x

By:

Korkiamäki, Paula;
Kervinen, Marko;
Karjalainen, Karoliina;
Majamaa, Kari;
Uusimaa, Johanna;
Remes, Anne M.

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

Evidence for mtDNA Admixture between the Finns and the Saami.

Published in:

Human Heredity, 2001, v. 52, n. 3, p. 160, doi. 10.1159/000053372

By:

Meinilä, Maria;
Finnilä, Saara;
Majamaa, Kari

Publication type:

Article

Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.

Published in:

NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-021-00275-7

By:

Kytövuori, Laura;
Sipilä, Jussi;
Doi, Hiroshi;
Hurme-Niiranen, Anri;
Siitonen, Ari;
Koshimizu, Eriko;
Miyatake, Satoko;
Matsumoto, Naomichi;
Tanaka, Fumiaki;
Majamaa, Kari

Publication type:

Article

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.

Published in:

Molecular Neurodegeneration, 2010, v. 5, p. 1, doi. 10.1186/1750-1326-5-8

By:

Krüger, Johanna;
Hinttala, Reetta;
Majamaa, Kari;
Remes, Anne M.

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

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

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

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

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

Published in:

Neuroepidemiology, 2017, v. 49, n. 1/2, p. 34, doi. 10.1159/000478860

By:

Marttila, Maria;
Kytövuori, Laura;
Helisalmi, Seppo;
Kallio, Mika;
Laitinen, Marjo;
Hiltunen, Mikko;
Kärppä, Mikko;
Majamaa, Kari

Publication type:

Article

Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study.

Published in:

Neuroepidemiology, 2012, v. 38, n. 2, p. 114, doi. 10.1159/000336112

By:

Martikainen, Mika H.;
Hinttala, Reetta;
Röyttä, Matias;
Jääskeläinen, Satu;
Wendelin-Saarenhovi, Maria;
Parkkola, Riitta;
Majamaa, Kari

Publication type:

Article

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2543, doi. 10.1093/hmg/ddl176

By:

Kervinen, Marko;
Hinttala, Reetta;
Helander, Heli M.;
Kurki, Sari;
Uusimaa, Johanna;
Finel, Moshe;
Majamaa, Kari;
Hassinen, Ilmo E.

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

Association of biallelic RFC1 expansion with early‐onset Parkinson's disease.

Published in:

European Journal of Neurology, 2023, v. 30, n. 5, p. 1256, doi. 10.1111/ene.15717

By:

Ylikotila, Pauli;
Sipilä, Jussi;
Alapirtti, Tiina;
Ahmasalo, Riitta;
Koshimizu, Eriko;
Miyatake, Satoko;
Hurme‐Niiranen, Anri;
Siitonen, Ari;
Doi, Hiroshi;
Tanaka, Fumiaki;
Matsumoto, Naomichi;
Majamaa, Kari;
Kytövuori, Laura

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

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

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

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

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

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

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

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Published in:

Pediatric Nephrology, 2006, v. 21, n. 2, p. 182, doi. 10.1007/s00467-005-2116-1

By:

Laakkonen, Hanne;
Lönnqvist, Tuula;
Uusimaa, Johanna;
Qvist, Erik;
Valanne, Leena;
Nuutinen, Matti;
Ala-Houhala, Marja;
Majamaa, Kari;
Jalanko, Hannu;
Holmberg, Christer

Publication type:

Article

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

Published in:

2018

By:

Kärppä, Mikko;
Kytövuori, Laura;
Saari, Markku;
Majamaa, Kari

Publication type:

journal article