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1

Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy

Johanna Vilkki, Marja-Liisa Savontaus, Hannu Kalinmo, Eeva K. Nikoskelainen

Journal:

Year:

1989

Language:

english

File:

PDF, 741 KB

english, 1989

2

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

Vesa Juvonen, Eeva Nikoskelainen, Tarja Lamminen, Maila Penttinen, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1997

Language:

english

File:

PDF, 164 KB

english, 1997

3

X-Linked myopathy with excessive autophagy: A new hereditary muscle disease

Dr. Hannu Kalimo, Marja-Liisa Savontaus, Heikki Lang, Leo Paljärvi, Vesa Sonninen, Peter B. Dean, Kalevi Katevuo, Antero Salminen

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 1012 KB

english, 1988

4

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami

Lahermo, Päivi, Savontaus, Marja-Liisa, Sistonen, Pertti, Béres, Judit, de Knijff, Peter, Aula, Pertti, Sajantila, Antti

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 159 KB

english, 1999

5

mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe

Antonio Torroni, Hans-Jürgen Bandelt, Leila D'Urbano, Päivi Lahermo, Pedro Moral, Daniele Sellitto, Chiara Rengo, Peter Forster, Marja-Liisa Savontaus, Batsheva Bonné-Tamir, Rosaria Scozzari

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.84 MB

english, 1998

6

Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, with Special Reference to mtDNA Mutations

Nikoskelainen, Eeva K., Huoponen, Kirsi, Juvonen, Vesa, Lamminen, Tarja, Nummelin, Kari, Savontaus, Marja-Liisa

Journal:

Year:

1996

Language:

english

File:

PDF, 4.45 MB

english, 1996

7

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients

Kaisa Silander, Päivi Meretoja, Eva Nelis, Vincent Timmerman, Christine Van Broeckhoven, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1996

Language:

english

File:

PDF, 742 KB

english, 1996

8

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies

Kaisa Silander, Päivi Meretoja, Vesa Juvonen, Jaakko Ignatius, Helena Pihko, Ari Saarinen, Tiina Wallden, Eila Herrgård, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1998

Language:

english

File:

PDF, 304 KB

english, 1998

9

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

Vesa Juvonen, Marja Hietala, Markku Päivärinta, Maria Rantamäki, Lauri Hakamies, Seppo Kaakkola, Outi Vierimaa, Maila Penttinen, Marja-Liisa Savontaus

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

10

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

Kirsi Huoponen, Vesa Juvonen, Antti Iitiä, Patrik Dahlen, Harri Siitari, Pertti Aula, Eeva Nikoskelainen, Marja-Liisa Savontaus

Journal:

Year:

1994

Language:

english

File:

PDF, 633 KB

english, 1994

11

Long CAG repeats in the AR gene are not associated with infertility in Finnish males

Annastiina Lund, Juha S. Tapanainen, Jaana Lähdetie, Marja-Liisa Savontaus, Kristiina Aittomäki

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2003

Language:

english

File:

PDF, 95 KB

english, 2003

12

Genetic counseling in Leber hereditary optic neuropathy (LHON)

Kirsi Huoponen, Anu Puomila, Marja-Liisa Savontaus, Eila Mustonen, Elina Kronqvist, Eeva Nikoskelainen

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2002

Language:

english

File:

PDF, 202 KB

english, 2002

13

Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population

Pekka Nokelainen, Leena Alanen-Kurki, Robert Winqvist, Björn Falck, Hannu Somer, Jaakko Leisti, Keith Johnson, Marja-Liisa Savontaus, Leena Peltonen

Journal:

Year:

1990

Language:

english

File:

PDF, 476 KB

english, 1990

14

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Vesa Juvonen, Kirsi Huoponen, Ann-Christine Syvänen, Eeva Nikoskelainen, Marja-Liisa Savontaus

Journal:

Year:

1994

Language:

english

File:

PDF, 512 KB

english, 1994

15

Human mitochondrial DNA types in Finland

Johanna Vilkki, Marja-Liisa Savontaus, Eeva K. Nikoskelainen

Journal:

Year:

1988

Language:

english

File:

PDF, 585 KB

english, 1988

16

Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland

Vesa Juvonen, Satu-Maria Kulmala, Jaakko Ignatius, Maila Penttinen, Marja-Liisa Savontaus

Journal:

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

17

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

T. Lauteala, Nina Horelli-Kuitunen, Ellen Closs, Marja-Liisa Savontaus, Mari Lukkarinen, Olli Simell, James Cunningham, Aarno Palotie, Pertti Aula

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

18

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

K. Silander, Päivi Meretoja, Helena Pihko, Vesa Juvonen, Jouni Issakainen, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

19

Phylogenetic relationships of the tribe Operophterini (Lepidoptera, Geometridae): a case study of the evolution of female flightlessness

NIINA SNÄLL, TOOMAS TAMMARU, NIKLAS WAHLBERG, JAAN VIIDALEPP, KAI RUOHOMÄKI, MARJA-LIISA SAVONTAUS, KIRSI HUOPONEN

Journal:

Biological Journal of the Linnean Society

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

20

Dominant optic atrophy: correlation between clinical and molecular genetic studies

Anu Puomila, Kirsi Huoponen, Maija Mäntyjärvi, Petra Hämäläinen, Reetta Paananen, Eeva-Marja Sankila, Marja-Liisa Savontaus, Mirja Somer, Eeva Nikoskelainen

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2005

Language:

english

File:

PDF, 2.04 MB

english, 2005

21

Genomic landscape of positive natural selection in Northern European populations

Lappalainen, Tuuli, Salmela, Elina, Andersen, Peter M, Dahlman-Wright, Karin, Sistonen, Pertti, Savontaus, Marja-Liisa, Schreiber, Stefan, Lahermo, Päivi, Kere, Juha

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 593 KB

english, 2009

22

Genetic homogeneity of lysinuric protein intolerance

Lauteala, Tuija, Mykkänen, Juha, Sperandeo, Maria Pia, Gasparini, Paolo, Savontaus, Marja-Liisa, Simell, Olli, Andria, Generoso, Sebastio, Gianfranco, Aula, Pentti

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999

23

Detection of the founder effect in Finnish CADASIL families

Mykkänen, Kati, Savontaus, Marja-Liisa, Juvonen, Vesa, Sistonen, Pertti, Tuisku, Seppo, Tuominen, Susanna, Penttinen, Maila, Lundkvist, Johan, Viitanen, Matti, Kalimo, Hannu

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

24

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

Rinne, Tuula, Spadoni, Emanuela, Kjaer, Klaus W, Danesino, Cesare, Larizza, Daniela, Kock, Marianne, Huoponen, Kirsi, Savontaus, Marja-Liisa, Aaltonen, Markku, Duijf, Pascal

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

25

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

Puomila, Anu, Hämäläinen, Petra, Kivioja, Sanna, Savontaus, Marja-Liisa, Koivumäki, Satu, Huoponen, Kirsi, Nikoskelainen, Eeva

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

26

Cytology of aberrations induced by X-rays in oocytes of Drosophila melanogaster

Marja-Liisa Savontaus, Seppo Nokkala

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

1979

Language:

english

File:

PDF, 426 KB

english, 1979

27

Relationship between effects of X-rays on nondisjunction and crossing over in Drosophila melanogaster

MARJA-LIISA SAVONTAUS

Journal:

Year:

1975

Language:

english

File:

PDF, 591 KB

english, 1975

28

X-ray induced autosomal nondisjunction in relation to crossing over in Drosophila melanogaster

MARJA-LIISA SAVONTAUS

Journal:

Year:

1977

Language:

english

File:

PDF, 276 KB

english, 1977

29

Cytology of aberrations induced by X-rays in oocytes of Drosophila melanogaster. : II. Early meiotic stages

MARJA-LIISA SAVONTAUS

Journal:

Year:

1981

Language:

english

File:

PDF, 569 KB

english, 1981

30

Cytology of aberrations induced by X-rays in oocytes of Drosophila melanogaster : III. Mature oocytes

MARJA-LIISA SAVONTAUS

Journal:

Year:

1983

Language:

english

File:

PDF, 598 KB

english, 1983

31

Abstracts of Papers Presented at the Sixteenth Meeting of the Scandinavian Association of Geneticists June 15–18, 1996, Turku, Finland

Petter Portin, Christina Nokkala, Juha Larkka, Seppo Nokkala, Marja-Liisa Savontaus, YrjÖ Viinikka, Christina Nokkala

Journal:

Year:

1996

Language:

english

File:

PDF, 1.67 MB

english, 1996

32

Characterization of the Lysinuric Protein Intolerance (LPI) Region within T-cell Receptor α/δ Gene Cluster on Chromosome Site 14qll

Tuija Lauteala, Juha Mykkänen, Nina Horelli-Kuitunen, Johanna Aaltonen, Paulina Paavola, Marja-Liisa Savontaus, Olli Simell, Pertti Aula

Journal:

Year:

1999

Language:

english

File:

PDF, 525 KB

english, 1999

33

MtDNA Polymorphism in the Hungarians: Comparison to Three other Finno-Ugric-Speaking Populations

Päivi Lahermo, Virpi Laitinen, Pertti Sistonen, Judit Béres, Veronica Karcagi, Marja-Liisa Savontaus

Journal:

Year:

2000

Language:

english

File:

PDF, 770 KB

english, 2000

34

Origin of Finnish Mutations Causing Aspartylglucosaminuria

Sanna Valkonen, Marja Hietala, Marja-Liisa Savontaus, Pertii Aula

Journal:

Year:

1999

Language:

english

File:

PDF, 377 KB

english, 1999

35

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis

Johanna Mäenpää, Elina Lindahl, Pertti Aula, Marja-Liisa Savontaus

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 453 KB

english, 1990

36

Catalytic Activity of Complex I in Cell Lines that Possess Replacement Mutations in the ND Genes in Leber's Hereditary Optic Neuropathy

Anna Majander, Moshe Finel, Marja-Liisa Savontaus, Eeva Nikoskelainen, Måten WikströM

Journal:

Year:

1996

Language:

english

File:

PDF, 872 KB

english, 1996

37

Expression of Normal and Mutant GFP-Tagged y+L Amino Acid Transporter-1 in Mammalian Cells

Minna Toivonen, Juha Mykkänen, Pertti Aula, Olli Simell, Marja-Liisa Savontaus, Kirsi Huoponen

Journal:

Biochemical and Biophysical Research Communications

Year:

2002

Language:

english

File:

PDF, 201 KB

english, 2002

38

Gene defects in Leber hereditary optic neuroretinopathy

Marja-Liisa Savontaus, Kirsi Huoponen, Anna Majander, Pertti Aula, Eeva K. Nikoskelainen

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1992

Language:

english

File:

PDF, 194 KB

english, 1992

39

Electron transfer properties of NADH: Ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

Anna Majander, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Ma˚rten Wikstro¨m

Journal:

Year:

1991

Language:

english

File:

PDF, 486 KB

english, 1991

40

mtDNA mutations in Leber's hereditary optic neuropathy

Marja-Liisa Savontaus

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1995

Language:

english

File:

PDF, 293 KB

english, 1995

41

Regional differences among the Finns: A Y-chromosomal perspective

Tuuli Lappalainen, Satu Koivumäki, Elina Salmela, Kirsi Huoponen, Pertti Sistonen, Marja-Liisa Savontaus, Päivi Lahermo

Journal:

Year:

2006

Language:

english

File:

PDF, 367 KB

english, 2006

42

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)

Juha Mykkänen, Minna Toivonen, Maaria Kleemola, Marja-Liisa Savontaus, Olli Simell, Pertti Aula, Kirsi Huoponen

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 222 KB

english, 2003

43

Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

Anna Majander, Tarja Lamminen, Vesa Juvonen, Pertti Aula, Eeva Nikoskelainen, Marja-Liisa Savontaus, Mårten Wikström

Journal:

Year:

1997

Language:

english

File:

PDF, 427 KB

english, 1997

44

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland

Päivi Meretoja, Kaisa Silander, Hannu Kalimo, Pertti Aula, Atte Meretoja, Marja-Liisa Savontaus

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 37 KB

english, 1997

45

Reply to Hofmann et al.

David Mackey, Roelof-Jan Oostra, Thomas Rosenberg, Eeva Nikoskelainen, Joanna Poulton, Tim Barratt, Pieter Bolhuis, Søren Nørby, Marja-Liisa Savontaus, Christopher Chan, Neil Howell

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

46

mtDNA Haplogroups and Frequency Patterns in Europe

Antonio Torroni, Martin Richards, Vincent Macaulay, Peter Forster, Richard Villems, Søren Nørby, Marja-Liisa Savontaus, Kirsi Huoponen, Rosaria Scozzari, Hans-Jürgen Bandelt

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

47

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horvath, Veronika Karcagi, Liesbeth S

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 255 KB

english, 2005

48

Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14

Tuija Lauteala, Pertti Sistonen, Marja-Liisa Savontaus, Juha Mykkänen, Jaakko Simell, Mari Lukkarinen, Olli Simell, Pertti Aula

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 508 KB

english, 1997

49

A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men

Annastiina Lund, Vesa Juvonen, Jaana Lähdetie, Kristiina Aittomäki, Juha S Tapanainen, Marja-Liisa Savontaus

Journal:

Fertility and Sterility

Year:

2003

Language:

english

File:

PDF, 46 KB

english, 2003

50

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families

Anu Puomila, Tommi Viitanen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Kirsi Huoponen

Journal:

Journal of the Neurological Sciences

Year:

2002

Language:

english

File:

PDF, 153 KB

english, 2002

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