Works by Moilanen, Jukka S.

Results: 26

The co-occurrence of mt DNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific.

Published in:

Aging Cell, 2014, v. 13, n. 3, p. 401, doi. 10.1111/acel.12186

By:

Raule, Nicola;
Sevini, Federica;
Li, Shengting;
Barbieri, Annalaura;
Tallaro, Federica;
Lomartire, Laura;
Vianello, Dario;
Montesanto, Alberto;
Moilanen, Jukka S.;
Bezrukov, Vladyslav;
Blanché, Hélène;
Hervonen, Antti;
Christensen, Kaare;
Deiana, Luca;
Gonos, Efstathios S.;
Kirkwood, Tom B. L.;
Kristensen, Peter;
Leon, Alberta;
Pelicci, Pier Giuseppe;
Poulain, Michel

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

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

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

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

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

Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis.

Published in:

Respiratory Research, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12931-024-02864-5

By:

Jaula, Hanna;
Mattila, Lauri;
Lappi-Blanco, Elisa;
Salonen, Johanna;
Vähänikkilä, Hannu;
Ahvenjärvi, Lauri;
Moilanen, Jukka S.;
Kuismin, Outi;
Harju, Terttu;
Kaarteenaho, Riitta

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

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-82

By:

Haanpää, Maria;
Pylkäs, Katri;
Moilanen, Jukka S.;
Winqvist, Robert

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

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

Published in:

Familial Cancer, 2018, v. 17, n. 4, p. 531, doi. 10.1007/s10689-017-0067-x

By:

von Salomé, Jenny;
Liu, Tao;
Keihäs, Markku;
Morak, Moni;
Holinski-Feder, Elke;
Berry, Ian R.;
Moilanen, Jukka S.;
Baert-Desurmont, Stéphanie;
Lindblom, Annika;
Lagerstedt-Robinson, Kristina

Publication type:

Article

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 2, p. 186, doi. 10.1111/dmcn.16036

By:

Oikarainen, Jaakko H.;
Knuutinen, Oula A.;
Kangas, Salla M.;
Rahikkala, Elisa J.;
Pokka, Tytti M.‐L.;
Moilanen, Jukka S.;
Hinttala, Reetta M.;
Vieira, Päivi M.;
Uusimaa, Johanna M.;
Suo‐Palosaari, Maria H.

Publication type:

Article

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884

By:

Knuutinen, Oula A;
Oikarainen, Jaakko H;
Suo‐Palosaari, Maria H;
Kangas, Salla M;
Rahikkala, Elisa J;
Pokka, Tytti M‐L;
Moilanen, Jukka S;
Hinttala, Reetta M L;
Vieira, Päivi M;
Uusimaa, Johanna M

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

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

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 522, doi. 10.1038/ejhg.2013.190

By:

Ylikallio, Emil;
Johari, Mridul;
Konovalova, Svetlana;
Moilanen, Jukka S;
Kiuru-Enari, Sari;
Auranen, Mari;
Pajunen, Leila;
Tyynismaa, Henna

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

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

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837

By:

Kraatari-Tiri, Minna;
Haanpää, Maria K.;
Willberg, Tytti;
Pohjola, Pia;
Keski-Filppula, Riikka;
Kuismin, Outi;
Moilanen, Jukka S.;
Häkli, Sanna;
Rahikkala, Elisa

Publication type:

Article

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

Human Chromosome Y and Haplogroups; introducing YDHS Database.

Published in:

Clinical & Translational Medicine, 2015, v. 4, n. 1, p. 1, doi. 10.1186/s40169-015-0060-7

By:

Tiirikka, Timo;
Moilanen, Jukka S

Publication type:

Article

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.

Published in:

2012

By:

Turan S;
Ignatius J;
Moilanen JS;
Kuismin O;
Stewart H;
Mann NP;
Linglart A;
Bastepe M;
Jüppner H;
Turan, Serap;
Ignatius, Jaakko;
Moilanen, Jukka S;
Kuismin, Outi;
Stewart, Helen;
Mann, Nicholas P;
Linglart, Agnès;
Bastepe, Murat;
Jüppner, Harald

Publication type:

journal article