Association of mitochondrial DNA haplogroups J and K with low response in exercise training among Finnish military conscripts
Kiiskilä, Jukka, Jokelainen, Jari, Kytövuori, Laura, Mikkola, Ilona, Härkönen, Pirjo, Keinänen-Kiukaanniemi, Sirkka, Majamaa, Kari
Published in BMC genomics (22.01.2021)
Published in BMC genomics (22.01.2021)
Get full text
Journal Article
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease
Kytövuori, Laura, Sipilä, Jussi, Doi, Hiroshi, Hurme-Niiranen, Anri, Siitonen, Ari, Koshimizu, Eriko, Miyatake, Satoko, Matsumoto, Naomichi, Tanaka, Fumiaki, Majamaa, Kari
Published in NPJ Parkinson's Disease (10.01.2022)
Published in NPJ Parkinson's Disease (10.01.2022)
Get full text
Journal Article
Analysis of functional variants in mitochondrial DNA of Finnish athletes
Kiiskilä, Jukka, Moilanen, Jukka S, Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari
Published in BMC genomics (29.10.2019)
Published in BMC genomics (29.10.2019)
Get full text
Journal Article
Genetics of early onset Parkinson’s disease in Finland: exome sequencing and genome-wide association study
Siitonen, A, Nalls, M.A, Hernández, D, Gibbs, J.R, Ding, J, Ylikotila, P, Edsall, C, Singleton, A, Majamaa, K
Published in Neurobiology of aging (01.05.2017)
Published in Neurobiology of aging (01.05.2017)
Get full text
Journal Article
Molecular epidemiology of hereditary ataxia in Finland
Lipponen, Joonas, Helisalmi, Seppo, Raivo, Joose, Siitonen, Ari, Doi, Hiroshi, Rusanen, Harri, Lehtilahti, Maria, Ryytty, Mervi, Laakso, Markku, Tanaka, Fumiaki, Majamaa, Kari, Kytövuori, Laura
Published in BMC neurology (02.10.2021)
Published in BMC neurology (02.10.2021)
Get full text
Journal Article
Stable low prevalence of Huntington’s disease in Finland
Sipilä, Jussi O.T., Majamaa, Kari
Published in Clinical parkinsonism & related disorders (01.01.2023)
Published in Clinical parkinsonism & related disorders (01.01.2023)
Get full text
Journal Article
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype
Kärppä, Mikko, Kytövuori, Laura, Saari, Markku, Majamaa, Kari
Published in BMC neurology (20.09.2018)
Published in BMC neurology (20.09.2018)
Get full text
Journal Article
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study
Marttila, Maria, Kytövuori, Laura, Helisalmi, Seppo, Kallio, Mika, Laitinen, Marjo, Hiltunen, Mikko, Kärppä, Mikko, Majamaa, Kari
Published in Neuroepidemiology (01.01.2017)
Published in Neuroepidemiology (01.01.2017)
Get more information
Journal Article
Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population
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
Published in Acta neuropathologica communications (09.11.2020)
Published in Acta neuropathologica communications (09.11.2020)
Get full text
Journal Article
Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise
Kiiskilä, Jukka M, Hassinen, Ilmo E, Kettunen, Johannes, Kytövuori, Laura, Mikkola, Ilona, Härkönen, Pirjo, Jokelainen, Jari J, Keinänen-Kiukaanniemi, Sirkka, Perola, Markus, Majamaa, Kari
Published in BMC sports science, medicine & rehabilitation (26.05.2022)
Published in BMC sports science, medicine & rehabilitation (26.05.2022)
Get full text
Journal Article
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
Uusimaa, Johanna, Moilanen, Jukka S., Vainionpää, Leena, Tapanainen, Päivi, Lindholm, Päivi, Nuutinen, Matti, Löppönen, Tuija, Mäki-Torkko, Elina, Rantala, Heikki, Majamaa, Kari
Published in Annals of neurology (01.09.2007)
Published in Annals of neurology (01.09.2007)
Get full text
Journal Article
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder
Kytövuori, Laura, Kärppä, Mikko, Tuominen, Hannu, Uusimaa, Johanna, Saari, Markku, Hinttala, Reetta, Majamaa, Kari
Published in BMC neurology (18.05.2017)
Published in BMC neurology (18.05.2017)
Get full text
Journal Article
Distribution of collagen XVII in the human brain
Seppänen, Allan, Suuronen, Tiina, Hofmann, Silke C, Majamaa, Kari, Alafuzoff, Irina
Published in Brain research (16.07.2007)
Published in Brain research (16.07.2007)
Get full text
Journal Article
Genome wide assessment of young onset Parkinson's disease from Finland
Hernandez, Dena G, Nalls, Michael A, Ylikotila, Pauli, Keller, Margaux, Hardy, John A, Majamaa, Kari, Singleton, Andrew B
Published in PloS one (24.07.2012)
Published in PloS one (24.07.2012)
Get full text
Journal Article
The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event
Behar, Doron M., Metspalu, Ene, Kivisild, Toomas, Achilli, Alessandro, Hadid, Yarin, Tzur, Shay, Pereira, Luisa, Amorim, Antonio, Quintana-Murci, Lluís, Majamaa, Kari, Herrnstadt, Corinna, Howell, Neil, Balanovsky, Oleg, Kutuev, Ildus, Pshenichnov, Andrey, Gurwitz, David, Bonne-Tamir, Batsheva, Torroni, Antonio, Villems, Richard, Skorecki, Karl
Published in American journal of human genetics (01.03.2006)
Published in American journal of human genetics (01.03.2006)
Get full text
Journal Article