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1

Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia

Jaana Autere, JukkaS. Moilanen, Saara Finnilä, Hilkka Soininen, Arto Mannermaa, Päivi Hartikainen, Merja Hallikainen, Kari Majamaa

Journal:

Year:

2004

Language:

english

File:

PDF, 121 KB

english, 2004

2

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

Niemi, Anna-Kaisa, Majamaa, Kari

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 97 KB

english, 2005

3

The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

Doron M. Behar, Ene Metspalu, Toomas Kivisild, Alessandro Achilli, Yarin Hadid, Shay Tzur, Luisa Pereira, Antonio Amorim, Lluís Quintana-Murci, Kari Majamaa, Corinna Herrnstadt, Neil Howell, Oleg Bala

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 504 KB

english, 2006

4

Molecular Genetic Analysis of the APP, PSEN1, and PSEN2 Genes in Finnish Patients With Early-onset Alzheimer Disease and Frontotemporal Lobar Degeneration

Krüger, Johanna, Moilanen, Virpi, Majamaa, Kari, Remes, Anne M.

Journal:

Alzheimer Disease & Associated Disorders

Year:

2012

Language:

english

File:

PDF, 131 KB

english, 2012

5

Sequence Variation in the tRNA Genes of Human Mitochondrial DNA

Tiina Vilmi, Jukka S. Moilanen, Saara Finnilä, Kari Majamaa

Journal:

Journal of Molecular Evolution

Year:

2005

Language:

english

File:

PDF, 214 KB

english, 2005

6

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

Mervi S. Lehtonen, Jukka S. Moilanen, Kari Majamaa

Journal:

Year:

2003

Language:

english

File:

PDF, 310 KB

english, 2003

7

Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts

Gino Cortopassi, Steven Danielson, Mansour Alemi, Shan Shan Zhan, Warren Tong, Valerio Carelli, Andrea Martinuzzi, Sangot Marzuki, Kari Majamaa, Alice Wong

Journal:

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

8

Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA

Johanna Annunen-Rasila, Mikko Kärppä, Saara Finnilä, Heli Ylä-Outinen, Johanna Veijola, Hannu Tuominen, Juha Peltonen, Kari Majamaa

Journal:

Year:

2007

Language:

english

File:

PDF, 463 KB

english, 2007

9

Analysis of functional consequences of haplogroup J polymorphisms m.4216T > C and m.3866T > C in human MT-ND1: Mutagenesis of homologous positions in Escherichia coli

Reetta Hinttala, Marko Kervinen, Johanna Uusimaa, Pilvi Maliniemi, Saara Finnilä, Heikki Rantala, Anne M. Remes, Ilmo E. Hassinen, Kari Majamaa

Journal:

Year:

2010

Language:

english

File:

PDF, 212 KB

english, 2010

10

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Petri Luoma, Atle Melberg, Juha O Rinne, Jyrki A Kaukonen, Nina N Nupponen, Richard M Chalmers, Anders Oldfors, Ilkka Rautakorpi, Leena Peltonen, Kari Majamaa, Hannu Somer, Anu Suomalainen

Journal:

Year:

2004

Language:

english

File:

PDF, 470 KB

english, 2004

11

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

Reetta Hinttala, Johanna Uusimaa, Hana Antonicka, Hannaleena Kokkonen, Jukka S. Moilanen, Heikki Rantala, Kari Majamaa, Eric A. Shoubridge

Journal:

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

12

Evidence for mtDNA Admixture between the Finns and the Saami

Meinil&auml, , Maria, Finnil&auml, , Saara, Majamaa, Kari

Journal:

Year:

2001

Language:

english

File:

PDF, 291 KB

english, 2001

13

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA

Martikainen, Mika H., Kytövuori, Laura, Majamaa, Kari

Journal:

Year:

2013

Language:

english

File:

PDF, 356 KB

english, 2013

14

Childhood hearing impairment in northern Finland, etiology and additional disabilities

Häkli, Sanna, Luotonen, Mirja, Bloigu, Risto, Majamaa, Kari, Sorri, Martti

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2014

Language:

english

File:

PDF, 293 KB

english, 2014

15

Effects of pathogenic mutations in membrane subunits of mitochondrial Complex I on redox activity and proton translocation studied by modeling in Escherichia coli

Pätsi, Jukka, Kervinen, Marko, Kytövuori, Laura, Majamaa, Kari, Hassinen, Ilmo E.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.81 MB

english, 2015

16

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

Siitonen, Ari, Nalls, Michael A., Hernández, Dena, Gibbs, J. Raphael, Ding, Jinhui, Ylikotila, Pauli, Edsall, Connor, Singleton, Andrew, Majamaa, Kari

Journal:

Neurobiology of Aging

Year:

2017

Language:

english

File:

PDF, 365 KB

english, 2017

17

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

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, Chinne

Journal:

Year:

2018

Language:

english

File:

PDF, 892 KB

english, 2018

18

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

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

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 335 KB

english, 2003

19

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation

Maria T. Rantamäki, Heidi K. Soini, Saara M. Finnilä, Kari Majamaa, Bjarne Udd

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 86 KB

english, 2005

20

Secondary metabolic effects in complex I deficiency

Nayla Esteitie, Reetta Hinttala, Rolf Wibom, Helene Nilsson, Nicole Hance, Karin Naess, Kristina Teär-Fahnehjelm, Ulrika Von Döbeln, Kari Majamaa, Nils-Göran Larsson

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 259 KB

english, 2005

21

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

Johanna Uusimaa, Jukka S. Moilanen, Leena Vainionpää, Päivi Tapanainen, Päivi Lindholm, Matti Nuutinen, Tuija Löppönen, Elina Mäki-Torkko, Heikki Rantala, Kari Majamaa

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 212 KB

english, 2007

22

Cytoskeletal structure of myoblasts with the mitochondrial DNA 3243A→G mutation and of osteosarcoma cells with respiratory chain deficiency

Harri Rusanen, Johanna Annunen, Heli Ylä-Outinen, Aino Laurila, Juha Peltonen, Ilmo E. Hassinen, Kari Majamaa

Journal:

Year:

2002

Language:

english

File:

PDF, 1.11 MB

english, 2002

23

Digenic mutations in severe myoclonic epilepsy of infancy

Maija Bolszak, Anna-Kaisa Anttonen, Tuomas Komulainen, Reetta Hinttala, Salla Pakanen, Raija Sormunen, Riitta Herva, Anna-Elina Lehesjoki, Kari Majamaa, Heikki Rantala, Johanna Uusimaa

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 445 KB

english, 2009

24

POLG1p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

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

Journal:

Year:

2010

Language:

english

File:

PDF, 1.13 MB

english, 2010

25

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

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

Journal:

Molecular Neurodegeneration

Year:

2010

Language:

english

File:

PDF, 275 KB

english, 2010

26

Proteome and cytoskeleton responses in osteosarcoma cells with reduced OXPHOS activity

Johanna Annunen-Rasila, Steffen Ohlmeier, Hanna Tuokko, Johanna Veijola, Kari Majamaa

Journal:

Year:

2007

Language:

english

File:

PDF, 666 KB

english, 2007

27

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

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

Journal:

Journal of Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 183 KB

english, 2005

28

A novel mitochondrial DNA mutation and a mutation in theNotch3gene in a patient with myopathy and CADASIL

Saara Finnilä, Seppo Tuisku, Riitta Herva, Kari Majamaa

Journal:

Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 169 KB

english, 2001

29

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G

Mikko Kärppä, Ibrahim Mahjneh, Ari Karttunen, Uolevi Tolonen, Kari Majamaa

Journal:

Journal of Neurology

Year:

2004

Language:

english

File:

PDF, 361 KB

english, 2004

30

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

Anna-Leena Heula, Juha Sajanti, Kari Majamaa

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

31

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

Mika H. Martikainen, Kari Majamaa

Journal:

Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 156 KB

english, 2010

32

Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression

Seija Uimonen, Jukka S. Moilanen, Martti Sorri, Ilmo E. Hassinen, Kari Majamaa

Journal:

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

33

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

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

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 160 KB

english, 2006

34

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Johanna Annunen-Rasila, Saara Finnilä, Kati Mykkänen, Jukka S. Moilanen, Johanna Veijola, Minna Pöyhönen, Matti Viitanen, Hannu Kalimo, Kari Majamaa

Journal:

Year:

2006

Language:

english

File:

PDF, 47 KB

english, 2006

35

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Johanna Annunen-Rasila, Saara Finnilä, Kati Mykkänen, Jukka S. Moilanen, Johanna Veijola, Minna Pöyhönen, Matti Viitanen, Hannu Kalimo, Kari Majamaa

Journal:

Year:

2006

Language:

english

File:

PDF, 218 KB

english, 2006

36

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content

Markus M. Lindroos, Ronald Borra, Nina Mononen, Terho Lehtimäki, Kirsi A. Virtanen, Virva Lepomäki, Letizia Guiducci, Patricia Iozzo, Kari Majamaa, Pirjo Nuutila

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 206 KB

english, 2011

37

Inhibition of Prolyl Hydroxylation During Collagen Biosynthesis in Human Skin Fibroblast Cultures by Ethyl 3,4-Dihydroxybenzoate.

Majamaa, Kari, Sasaki, Tetsuo, Uitto, Jouni

Journal:

The Journal of Investigative Dermatology

Year:

1987

File:

PDF, 2.70 MB

1987

38

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

Johanna Uusimaa, Reetta Hinttala, Heikki Rantala, Markku Päivärinta, Riitta Herva, Matias Röyttä, Heidi Soini, Jukka S. Moilanen, Anne M. Remes, Ilmo E. Hassinen, Kari Majamaa

Journal:

Year:

2008

Language:

english

File:

PDF, 242 KB

english, 2008

39

Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

Lehtonen, Mervi S, Uimonen, Seija, Hassinen, Ilmo E, Majamaa, Kari

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

40

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Moilanen, Jukka S, Majamaa, Kari

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 51 KB

english, 2001

41

Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation

Finnilä, Saara, Majamaa, Kari

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 122 KB

english, 2003

42

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

Niemi, Anna-Kaisa, Moilanen, Jukka S, Tanaka, Masashi, Hervonen, Antti, Hurme, Mikko, Lehtimäki, Terho, Arai, Yasumichi, Hirose, Nobuyoshi, Majamaa, Kari

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

43

Metabolic interventions against complex I deficiency in MELAS syndrome

Kari Majamaa, Harri Rusanen, Anne Remes, Ilmo E. Hassinen

Journal:

Molecular and Cellular Biochemistry

Year:

1997

Language:

english

File:

PDF, 145 KB

english, 1997

44

Pigmentary retinopathy in patients with the MELAS mutation 3243A→G in mitochondrial DNA

Terho Latvala, Eila Mustonen, Raimo Uusitalo, Kari Majamaa

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

45

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

Niemi, Anna-Kaisa, Hervonen, Antti, Hurme, Mikko, Karhunen, Pekka, Jylh&#x000E4, , Marja, Majamaa, Kari

Journal:

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

46

Catalytically active ferrous ions are not released from prolyl 4-hydroxylase under turnover conditions

Volkmar Günzler, Kari Majamaa, Hartmut M. Hanauske-Abel, Kari I. Kivirikko

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Year:

1986

Language:

english

File:

PDF, 455 KB

english, 1986

47

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1

Jukka Pätsi, Pilvi Maliniemi, Salla Pakanen, Reetta Hinttala, Johanna Uusimaa, Kari Majamaa, Thomas Nyström, Marko Kervinen, Ilmo E. Hassinen

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2012

Language:

english

File:

PDF, 642 KB

english, 2012

48

Distribution of collagen XVII in the human brain

Allan Seppänen, Tiina Suuronen, Silke C. Hofmann, Kari Majamaa, Irina Alafuzoff

Journal:

Year:

2007

Language:

english

File:

PDF, 716 KB

english, 2007

49

Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease

Allan Seppänen, Maria Pikkarainen, Päivi Hartikainen, Silke C. Hofmann, Kari Majamaa, Irina Alafuzoff

Journal:

Year:

2009

Language:

english

File:

PDF, 405 KB

english, 2009

50

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G

Kirsi Majamaa-Voltti, Keijo Peuhkurinen, Marja-Leena Kortelainen, Ilmo E Hassinen, Kari Majamaa

Journal:

BMC Cardiovascular Disorders

Year:

2002

Language:

english

File:

PDF, 257 KB

english, 2002

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