Works by Kytövuori, Laura

Results: 17

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

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

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

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

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

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

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

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

WFS1 mutations in hearing-impaired children.

Published in:

International Journal of Audiology, 2014, v. 53, n. 7, p. 446, doi. 10.3109/14992027.2014.887230

By:

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

Publication type:

Article

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.

Published in:

NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00501-4

By:

Sipilä, Jussi O. T.;
Kytövuori, Laura;
Rauramaa, Tuomas;
Rauhamaa, Hugo;
Kaasinen, Valtteri;
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

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

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

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

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

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