MARJA-LIISA SAVONTAUS : rechercher sur Z-Library

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

Année:

1989

Langue:

english

Fichier:

PDF, 741 KB

english, 1989

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

Journal:

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

Année:

1997

Langue:

english

Fichier:

PDF, 164 KB

english, 1997

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

Année:

1988

Langue:

english

Fichier:

PDF, 1012 KB

english, 1988

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

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 159 KB

english, 1999

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:

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

Année:

1998

Langue:

english

Fichier:

PDF, 1.84 MB

english, 1998

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

Journal:

Ophthalmology

Année:

1996

Langue:

english

Fichier:

PDF, 4.45 MB

english, 1996

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:

Année:

1996

Langue:

english

Fichier:

PDF, 742 KB

english, 1996

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:

Année:

1998

Langue:

english

Fichier:

PDF, 304 KB

english, 1998

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

Année:

2000

Langue:

english

Fichier:

PDF, 352 KB

english, 2000

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:

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

Année:

1994

Langue:

english

Fichier:

PDF, 633 KB

english, 1994

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

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Année:

2003

Langue:

english

Fichier:

PDF, 95 KB

english, 2003

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)

Année:

2002

Langue:

english

Fichier:

PDF, 202 KB

english, 2002

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:

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

Année:

1990

Langue:

english

Fichier:

PDF, 476 KB

english, 1990

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

Journal:

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

Année:

1994

Langue:

english

Fichier:

PDF, 512 KB

english, 1994

Human mitochondrial DNA types in Finland

Journal:

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

Année:

1988

Langue:

english

Fichier:

PDF, 585 KB

english, 1988

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

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 50 KB

english, 2002

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:

Année:

1997

Langue:

english

Fichier:

PDF, 45 KB

english, 1997

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:

Biological Journal of the Linnean Society

Année:

1997

Langue:

english

Fichier:

PDF, 71 KB

english, 1997

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:

Année:

2007

Langue:

english

Fichier:

PDF, 177 KB

english, 2007

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)

Année:

2005

Langue:

english

Fichier:

PDF, 2.04 MB

english, 2005

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:

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

Année:

2009

Langue:

english

Fichier:

PDF, 593 KB

english, 2009

Genetic homogeneity of lysinuric protein intolerance

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 108 KB

english, 1999

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:

Année:

2004

Langue:

english

Fichier:

PDF, 235 KB

english, 2004

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:

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

Année:

2006

Langue:

english

Fichier:

PDF, 163 KB

english, 2006

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

Journal:

Marja-Liisa Savontaus, Seppo Nokkala

Année:

2007

Langue:

english

Fichier:

PDF, 122 KB

english, 2007

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

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Année:

1979

Langue:

english

Fichier:

PDF, 426 KB

english, 1979

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

Journal:

Année:

1975

Langue:

english

Fichier:

PDF, 591 KB

english, 1975

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

Journal:

Année:

1977

Langue:

english

Fichier:

PDF, 276 KB

english, 1977

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

Journal:

Année:

1981

Langue:

english

Fichier:

PDF, 569 KB

english, 1981

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

Journal:

Année:

1983

Langue:

english

Fichier:

PDF, 598 KB

english, 1983

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:

Année:

1996

Langue:

english

Fichier:

PDF, 1.67 MB

english, 1996

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:

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

Année:

1999

Langue:

english

Fichier:

PDF, 525 KB

english, 1999

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

Journal:

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

Année:

2000

Langue:

english

Fichier:

PDF, 770 KB

english, 2000

Origin of Finnish Mutations Causing Aspartylglucosaminuria

Journal:

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

Année:

1999

Langue:

english

Fichier:

PDF, 377 KB

english, 1999

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 453 KB

english, 1990

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:

FEBS Journal

Année:

1996

Langue:

english

Fichier:

PDF, 872 KB

english, 1996

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

Année:

2002

Langue:

english

Fichier:

PDF, 201 KB

english, 2002

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

Année:

1992

Langue:

english

Fichier:

PDF, 194 KB

english, 1992

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:

FEBS Letters

Année:

1991

Langue:

english

Fichier:

PDF, 486 KB

english, 1991

mtDNA mutations in Leber's hereditary optic neuropathy

Marja-Liisa Savontaus

Journal:

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

Année:

1995

Langue:

english

Fichier:

PDF, 293 KB

english, 1995

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:

Gene

Année:

2006

Langue:

english

Fichier:

PDF, 367 KB

english, 2006

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

Année:

2003

Langue:

english

Fichier:

PDF, 222 KB

english, 2003

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:

FEBS Letters

Année:

1997

Langue:

english

Fichier:

PDF, 427 KB

english, 1997

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

Année:

1997

Langue:

english

Fichier:

PDF, 37 KB

english, 1997

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:

Année:

1998

Langue:

english

Fichier:

PDF, 64 KB

english, 1998

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:

Année:

2000

Langue:

english

Fichier:

PDF, 64 KB

english, 2000

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:

Année:

2005

Langue:

english

Fichier:

PDF, 255 KB

english, 2005

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: