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Marja-Liisa Savontaus

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Elina Salmela; Tuuli Lappalainen; Jianjun Liu; Pertti Sistonen; Peter M Andersen; Stefan Schreiber; Marja-Liisa Savontaus; Kamila Czene; Päivi Lahermo; Per Hall; Juha Kere
Swedish population substructure revealed by genome-wide single nucleotide polymorphism data.
Tuuli Lappalainen; Elina Salmela; Peter M Andersen; Karin Dahlman-Wright; Pertti Sistonen; Marja-Liisa Savontaus; Stefan Schreiber; Päivi Lahermo; Juha Kere
Genomic landscape of positive natural selection in Northern European populations.
T Lappalainen; Ulf Hannelius; Elina Salmela; U von Döbeln; Cecilia M Lindgren; Kirsi Huoponen; Marja-Liisa Savontaus; Juha Kere; Päivi Lahermo
Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis.

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All Publications

2011: Elina Salmela; Tuuli Lappalainen; Jianjun Liu; Pertti Sistonen; Peter M Andersen; Stefan Schreiber; Marja-Liisa Savontaus; Kamila Czene; Päivi Lahermo; Per Hall; Juha Kere
Swedish population substructure revealed by genome-wide single nucleotide polymorphism data.
PloS one 2011;6(2):e16747.
2010: Tuuli Lappalainen; Elina Salmela; Peter M Andersen; Karin Dahlman-Wright; Pertti Sistonen; Marja-Liisa Savontaus; Stefan Schreiber; Päivi Lahermo; Juha Kere
Genomic landscape of positive natural selection in Northern European populations.
European journal of human genetics : EJHG 2010;18(4):471-8.
2009: T Lappalainen; Ulf Hannelius; Elina Salmela; U von Döbeln; Cecilia M Lindgren; Kirsi Huoponen; Marja-Liisa Savontaus; Juha Kere; Päivi Lahermo
Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis.
Annals of human genetics 2009;73(1):61-73.
2008: T Lappalainen; V Laitinen; Elina Salmela; P Andersen; Kirsi Huoponen; Marja-Liisa Savontaus; Päivi Lahermo
Migration waves to the Baltic Sea region.
Annals of human genetics 2008;72(Pt 3):337-48.
2008: Elina Salmela; Tuuli Lappalainen; Ingegerd Fransson; Peter M Andersen; Karin Dahlman-Wright; Andreas Fiebig; Pertti Sistonen; Marja-Liisa Savontaus; Stefan Schreiber; Juha Kere; Päivi Lahermo
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
PloS one 2008;3(10):e3519.
2007: Anu Puomila; Petra Hämäläinen; Sanna Kivioja; Marja-Liisa Savontaus; Satu Koivumäki; Kirsi Huoponen; Eeva Nikoskelainen
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.
European journal of human genetics : EJHG 2007;15(10):1079-89.
2007: Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; P Y W Man; René F M de Coo; Rita Horvath; Massimo Zeviani; H J M Smeets; Antonio Torroni; Patrick F Chinnery
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
American journal of human genetics 2007;81(2):228-33.
2006: Elina Suominen; Raine Toivonen; Reidar Grenman; Marja-Liisa Savontaus
Head and neck cancer cells are efficiently infected by Ad5/35 hybrid virus.
The journal of gene medicine 2006;8(10):1223-31.
2006: Tuula Rinne; Emanuela Spadoni; Klaus Wilbrandt Kjaer; Cesare Danesino; Daniela Larizza; Marianne Kock; Kirsi Huoponen; Marja-Liisa Savontaus; Markku Aaltonen; Pascal Duijf; Han G Brunner; Maila Penttinen; Hans van Bokhoven
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
European journal of human genetics : EJHG 2006;14(8):904-10.
2006: Tuuli Lappalainen; Satu Koivumäki; Elina Salmela; Kirsi Huoponen; Pertti Sistonen; Marja-Liisa Savontaus; Päivi Lahermo
Regional differences among the Finns: a Y-chromosomal perspective.
Gene 2006;376(2):207-15.
2006: Elina Salmela; O Taskinen; Jouni K Seppänen; Pertti Sistonen; M J Daly; Päivi Lahermo; Marja-Liisa Savontaus; Juha Kere
Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes.
Journal of medical genetics 2006;43(7):590-7.
2006: Kirsi Huoponen; Tuuli Lappalainen; Marja-Liisa Savontaus
[From East or West? The genetic roots of Finns].
Duodecim; lääketieteellinen aikakauskirja 2006;122(1):63-8.
2006: Katsunori Shinozaki; E Suominen; Francine E Carrick; Bernhard V Sauter; Veli-Matti Kähäri; A Lieber; Savio L C Woo; Marja-Liisa Savontaus
Efficient infection of tumor endothelial cells by a capsid-modified adenovirus.
Gene therapy 2006;13(1):52-9.
2005: Gavin Hudson; Sharon M Keers; Patrick Yu Wai Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; H J M Smeets; Patrick F Chinnery
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
American journal of human genetics 2005;77(6):1086-91.
2005: Anu Puomila; Kirsi Huoponen; Maija Mäntyjärvi; Petra Hämäläinen; Reetta Paananen; Eeva-Marja Sankila; Marja-Liisa Savontaus; Mirja Somer; Eeva Nikoskelainen
Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Acta ophthalmologica Scandinavica 2005;83(3):337-46.
2005: Steven Richard Danielson; Valerio Carelli; Guolin Tan; Andrea Martinuzzi; Anthony H V Schapira; Marja-Liisa Savontaus; Gino Cortopassi
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process.
Brain : a journal of neurology 2005;128(Pt 5):1026-37.
2005: Vesa Juvonen; Marja Hietala; Veli Kairisto; Marja-Liisa Savontaus
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
Acta neurologica Scandinavica 2005;111(3):154-62.
2005: Mervi Ketonen; Riku Kiviranta; Marja-Liisa Savontaus; Hannu Järveläinen
[Unintentional weight loss of middle aged woman].
Duodecim; lääketieteellinen aikakauskirja 2005;121(14):1567, 1569.
2004: Marja-Liisa Savontaus; M Rintala-Jämsä; Jukka Morko; Olli Rönning; MP Metsäranta; Eero Vuorio
Abnormal craniofacial development and expression patterns of extracellular matrix components in transgenic Del1 mice harboring a deletion mutation in the type II collagen gene.
Orthodontics & craniofacial research 2004;7(4):216-26.
2004: Kati Mykkänen; Marja-Liisa Savontaus; Vesa Juvonen; Pertti Sistonen; Seppo Tuisku; Susanna Tuominen; Maila Penttinen; Johan Lundkvist; Matti Viitanen; Hannu Kalimo; Minna Pöyhönen
Detection of the founder effect in Finnish CADASIL families.
European journal of human genetics : EJHG 2004;12(10):813-9.
2004: Min Jiang; Marja-Liisa Savontaus; Henrik Simonsen; Catherine Williamson; Roman Müllenbach; Jörg Gromoll; Nicole Terwort; Maria Alevizaki; Ilpo Huhtaniemi
Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations.
Molecular human reproduction 2004;10(10):763-6.
2004: Randolph Hutter; Carolina Valdiviezo; Bernhard V Sauter; Marja-Liisa Savontaus; Igor Chereshnev; Francine E Carrick; Gerhard Bauriedel; Berndt Lüderitz; John T Fallon; Valentin Fuster; Juan J Badimon
Caspase-3 and tissue factor expression in lipid-rich plaque macrophages: evidence for apoptosis as link between inflammation and atherothrombosis.
Circulation 2004;109(16):2001-8.
2003: Otto Rahkonen; Marja-Liisa Savontaus; Eltyeb Abdelwahid; Eero Vuorio; Eero Jokinen
Expression patterns of cartilage collagens and Sox9 during mouse heart development.
Histochemistry and cell biology 2003;120(2):103-10.
2003: Annastiina Lund; Vesa Juvonen; Jaana Lähdetie; Kristiina Aittomäki; Juha S Tapanainen; Marja-Liisa Savontaus
A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.
Fertility and sterility 2003;79 Suppl 3():1647-8.
2003: Juha Mykkänen; Minna Toivonen; Maaria Kleemola; Marja-Liisa Savontaus; Olli Simell; Pertti Aula; Kirsi Huoponen
Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).
Biochemical and biophysical research communications 2003;301(4):855-61.
2003: Annastiina Lund; Juha S Tapanainen; Jaana Lähdetie; Marja-Liisa Savontaus; Kristiina Aittomäki
Long CAG repeats in the AR gene are not associated with infertility in Finnish males.
Acta obstetricia et gynecologica Scandinavica 2003;82(2):162-6.
2002: Anu Puomila; Tommi Viitanen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Kirsi Huoponen
Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families.
Journal of the neurological sciences 2002;205(1):41-5.
2002: Vesa Juvonen; Veli Kairisto; Marja Hietala; Marja-Liisa Savontaus
Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia.
Journal of medical genetics 2002;39(12):935-6.
2002: N Snäll; Kirsi Huoponen; Marja-Liisa Savontaus; Kai Ruohomäki
Tandem repeats and length variation in the mitochondrial DNA control region of Epirrita autumnata (Lepidoptera: Geometridae).
Genome / National Research Council Canada = Génome / Conseil national de recherches Canada 2002;45(5):855-61.
2002: Tatjana Sjakste; Lasma Lauberte; Yrjö Collan; Marja-Liisa Savontaus; Alla Bajare; Klaus Scherrer; Nikolajs Sjakste
Identification of an intronic TG repeat polymorphism in the human proteasome core particle PROS-27K gene.
DNA sequence : the journal of DNA sequencing and mapping 2002;13(3):139-43.
2002: Niina Snäll; Marja-Liisa Savontaus; Saara Kares; Myung Sik Lee; Eun Kyung Cho; Juha O Rinne; Kirsi Huoponen
A rare mitochondrial DNA haplotype observed in Koreans.
Human biology 2002;74(2):253-62.
2002: Minna Toivonen; Juha Mykkänen; Pertti Aula; Olli Simell; Marja-Liisa Savontaus; Kirsi Huoponen
Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
Biochemical and biophysical research communications 2002;291(5):1173-9.
2002: Alice Wong; Lucia Cavelier; Heather E Collins-Schramm; Michael F Seldin; Michael McGrogan; Marja-Liisa Savontaus; Gino Cortopassi
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.
Human molecular genetics 2002;11(4):431-8.
2002: Kirsi Huoponen; Anu Puomila; Marja-Liisa Savontaus; Eila Mustonen; Elina Kronqvist; Eeva Nikoskelainen
Genetic counseling in Leber hereditary optic neuropathy (LHON).
Acta ophthalmologica Scandinavica 2002;80(1):38-43.
2002: Virpi Laitinen; Päivi Lahermo; Pertti Sistonen; Marja-Liisa Savontaus
Y-chromosomal diversity suggests that Baltic males share common Finno-Ugric-speaking forefathers.
Human heredity 2002;53(2):68-78.
2002: Vesa Juvonen; Satu-Maria Kulmala; Jaakko Ignatius; Maila Penttinen; Marja-Liisa Savontaus
Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.
Human genetics 2002;110(1):36-40.
2001: Susanna Tuominen; Vesa Juvonen; Kaarina Amberla; T Jolma; Juha O Rinne; Seppo Tuisku; Timo Kurki; Reijo J Marttila; Minna Pöyhönen; Marja-Liisa Savontaus; Matti Viitanen; Hannu Kalimo
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.
Stroke; a journal of cerebral circulation 2001;32(8):1767-74.
2001: Annastiina Lund; Bjarne Udd; Vesa Juvonen; Peter M Andersen; K Cederquist; M Davis; C Gellera; C Kölmel; LO Ronnevi; A D Sperfeld; S A Sörensen; Lisbeth Tranebjaerg; Lionel Van Maldergem; M Watanabe; M Weber; L Yeung; Marja-Liisa Savontaus
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
European journal of human genetics : EJHG 2001;9(6):431-6.
2000: Vesa Juvonen; Marja Hietala; M Päivärinta; Maria T Rantamäki; L Hakamies; Seppo Kaakkola; Outi Vierimaa; Maila Penttinen; Marja-Liisa Savontaus
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.
Annals of neurology 2000;48(3):354-61.
2000: Kirsi Joronen; Heli Salminen; V Glumoff; Marja-Liisa Savontaus; Eero Vuorio
Temporospatial expression of tissue inhibitors of matrix metalloproteinases-1, -2 and -3 during development, growth and aging of the mouse skeleton.
Histochemistry and cell biology 2000;114(2):157-65.
2000: Annastiina Lund; Bjarne Udd; Vesa Juvonen; Peter M Andersen; K Cederquist; LO Ronnevi; Pertti Sistonen; S A Sörensen; Lisbeth Tranebjaerg; Carina Wallgren-Pettersson; Marja-Liisa Savontaus
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.
European journal of human genetics : EJHG 2000;8(8):631-6.
2000: Antonio Torroni; Martin Richards; Vincent Macaulay; Peter Forster; Richard Villems; S Norby; Marja-Liisa Savontaus; Kirsi Huoponen; Rosaria Scozzari; Hans-Jürgen Bandelt
mtDNA haplogroups and frequency patterns in Europe.
American journal of human genetics 2000;66(3):1173-7.
2000: Juha Mykkänen; David Torrents; Manuel Pineda; Marta Camps; M E Yoldi; Nina Horelli-Kuitunen; Kirsi Huoponen; M Heinonen; Jaana Oksanen; Olli Simell; Marja-Liisa Savontaus; Antonio Zorzano; Manuel Palacín; Pertti Aula
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
Human molecular genetics 2000;9(3):431-8.
2000: Päivi Lahermo; V Laitinen; Pertti Sistonen; J Béres; Veronika Karcagi; Marja-Liisa Savontaus
MtDNA polymorphism in the Hungarians: comparison to three other Finno-Ugric-speaking populations.
Hereditas 2000;132(1):35-42.
1999: K Kuismanen; Marja-Liisa Savontaus; Andrew Kozlov; Alpo F Vuorio; Antti Sajantila
Coagulation factor V Leiden mutation in sudden fatal pulmonary embolism and in a general northern European population sample.
Forensic science international 1999;106(2):71-5.
1999: Päivi Lahermo; Marja-Liisa Savontaus; Pertti Sistonen; J Béres; P de Knijff; Pertti Aula; Antti Sajantila
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami.
European journal of human genetics : EJHG 1999;7(4):447-58.
1999: David Torrents; Juha Mykkänen; Manuel Pineda; Lidia Feliubadaló; Raúl Estévez; Rafael de Cid; P Sanjurjo; Antonio Zorzano; Virginia Nunes; Kirsi Huoponen; A Reinikainen; Olli Simell; Marja-Liisa Savontaus; Pertti Aula; Manuel Palacín
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Nature genetics 1999;21(3):293-6.
1999: Sanna Valkonen; Marja Hietala; Marja-Liisa Savontaus; Pertti Aula
Origin of Finnish mutations causing aspartylglucosaminuria.
Hereditas 1999;131(3):191-5.
1999: T Lauteala; Juha Mykkänen; Nina Horelli-Kuitunen; Jaakko Aaltonen; P Paavola; Marja-Liisa Savontaus; Olli Simell; Pertti Aula
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.
Hereditas 1999;130(1):19-24.
1998: T Lauteala; Juha Mykkänen; Maria Pia Sperandeo; P Gasparini; Marja-Liisa Savontaus; Olli Simell; Generoso Andria; Gianfranco Sebastio; Pertti Aula
Genetic homogeneity of lysinuric protein intolerance.
European journal of human genetics : EJHG 1998;6(6):612-5.
1998: Bjarne Udd; Vesa Juvonen; L Hakamies; A Nieminen; Carina Wallgren-Pettersson; K Cederquist; Marja-Liisa Savontaus
High prevalence of Kennedy's disease in Western Finland -- is the syndrome underdiagnosed?
Acta neurologica Scandinavica 1998;98(2):128-33.
1998: Marja-Liisa Savontaus; Tapio Ihanamäki; Maritta Perälä; MP Metsäranta; Minna Sandberg-Lall; Eero Vuorio
Expression of type II and IX collagen isoforms during normal and pathological cartilage and eye development.
Histochemistry and cell biology 1998;110(2):149-59.
1998: Antonio Torroni; Hans-Jürgen Bandelt; L D'Urbano; Päivi Lahermo; Pedro Moral; Daniele Sellitto; Chiara Rengo; Peter Forster; Marja-Liisa Savontaus; B Bonné-Tamir; Rosaria Scozzari
mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe.
American journal of human genetics 1998;62(5):1137-52.
1998: D Mackey; Roelof-Jan Oostra; Thomas Rosenberg; Eeva Nikoskelainen; J Poulton; T Barratt; Piet A Bolhuis; S Norby; Marja-Liisa Savontaus; C Chan; Neil Howell
Reply to Hofmann et al.
American journal of human genetics 1998;62(2):492-5.
1998: P Meretoja; K Silander; Marja-Liisa Savontaus; Hannu Kalimo
[Hereditary neuropathy with liability to pressure palsies--a more common neuropathy than generally thought].
Duodecim; lääketieteellinen aikakauskirja 1998;114(24):2569-74.
1998: Hannu Kalimo; T Aho; Kaarina Amberla; M Baumann; Riitta Herva; Vesa Juvonen; K Kalimo; H Mononen; Vilho V Myllylä; Minna Pöyhönen; J Rinne; Marja-Liisa Savontaus; P Sonninen; V Sonninen; Seppo Tuisku; Matti Viitanen
[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].
Duodecim; lääketieteellinen aikakauskirja 1998;114(20):2041-51.
1998: Eeva Nikoskelainen; Marja-Liisa Savontaus
[Leber's optic neuropathy: a mitochondrial disease revealing its secret].
Duodecim; lääketieteellinen aikakauskirja 1998;114(3):303-6.
1998: K Silander; P Meretoja; Vesa Juvonen; Jaakko Ignatius; Helena Pihko; Anne Saarinen; T Wallden; Eila Herrgård; Pertti Aula; Marja-Liisa Savontaus
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Human mutation 1998;12(1):59-68.
1997: P Meretoja; K Silander; Hannu Kalimo; Pertti Aula; A Meretoja; Marja-Liisa Savontaus
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.
Neuromuscular disorders : NMD 1997;7(8):529-32.
1997: Marja-Liisa Savontaus; MP Metsäranta; Eero Vuorio
Mutation in type II collagen gene disturbs spinal development and gene expression patterns in transgenic Del1 mice.
Laboratory investigation; a journal of technical methods and pathology 1997;77(6):591-600.
1997: Tarja Lamminen; Kirsi Huoponen; Pertti Sistonen; Vesa Juvonen; Päivi Lahermo; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.
European journal of human genetics : EJHG 1997;5(5):271-9.
1997: K Silander; P Meretoja; Helena Pihko; Vesa Juvonen; Jouni Issakainen; Pertti Aula; Marja-Liisa Savontaus
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Human genetics 1997;100(3-4):391-7.
1997: A Majander; Tarja Lamminen; Vesa Juvonen; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus; Mårten Wikström
Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases.
FEBS letters 1997;412(2):351-4.
1997: T Lauteala; Pertti Sistonen; Marja-Liisa Savontaus; Juha Mykkänen; J Simell; Mari Lukkarinen; Olli Simell; Pertti Aula
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
American journal of human genetics 1997;60(6):1479-86.
1997: Maritta Perälä; Marja-Liisa Savontaus; MP Metsäranta; Eero Vuorio
Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis.
The Biochemical journal 1997;324 ( Pt 1)():209-16.
1997: Marja-Liisa Savontaus; Tapio Ihanamäki; MP Metsäranta; Eero Vuorio; Minna Sandberg-Lall
Localization of type II collagen mRNA isoforms in the developing eyes of normal and transgenic mice with a mutation in type II collagen gene.
Investigative ophthalmology & visual science 1997;38(5):930-42.
1997: Vesa Juvonen; Eeva Nikoskelainen; Tarja Lamminen; Maila Penttinen; Pertti Aula; Marja-Liisa Savontaus
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.
Human mutation 1997;9(5):412-7.
1996: Marja-Liisa Savontaus; M Metsranta; Eero Vuorio
Retarded skeletal development in transgenic mice with a type II collagen mutation.
The American journal of pathology 1996;149(6):2169-82.
1996: Juho Rantakokko; Hannu T Aro; Marja-Liisa Savontaus; Eero Vuorio
Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development.
FEBS letters 1996;393(2-3):307-13.
1996: A Majander; Moshe Finel; Marja-Liisa Savontaus; Eeva Nikoskelainen; Mårten Wikström
Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy.
European journal of biochemistry / FEBS 1996;239(1):201-7.
1996: Marja-Liisa Savontaus; Eero Vuorio; MP Metsäranta
Growth retardation in transgenic mice harboring a type II collagen mutation.
Annals of the New York Academy of Sciences 1996;785():328-30.
1996: Päivi Lahermo; Antti Sajantila; Pertti Sistonen; M Lukka; Pertti Aula; Leena Peltonen; Marja-Liisa Savontaus
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.
American journal of human genetics 1996;58(6):1309-22.
1996: Eeva Nikoskelainen; Kirsi Huoponen; Vesa Juvonen; Tarja Lamminen; K Nummelin; Marja-Liisa Savontaus
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations.
Ophthalmology 1996;103(3):504-14.
1996: K Silander; P Meretoja; Eva Nelis; Vincent Timmerman; Christine Van Broeckhoven; Pertti Aula; Marja-Liisa Savontaus
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
Human mutation 1996;8(4):304-10.
1996: Eva Nelis; Christine Van Broeckhoven; Peter De Jonghe; Ann Löfgren; Antoon Vandenberghe; Philippe Latour; E Le Guern; Alexis Brice; Maria Luisa Mostacciuolo; Franco Schiavon; Francesc Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; Paola Mandich; Emilia Bellone; K Silander; Marja-Liisa Savontaus; Ruth Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG 1996;4(1):25-33.
1995: Eeva Nikoskelainen; Reijo J Marttila; Kirsi Huoponen; Vesa Juvonen; Tarja Lamminen; Pirkko Sonninen; Marja-Liisa Savontaus
Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.
Journal of neurology, neurosurgery, and psychiatry 1995;59(2):160-4.
1995: Marja-Liisa Savontaus
mtDNA mutations in Leber's hereditary optic neuropathy.
Biochimica et biophysica acta 1995;1271(1):261-3.
1994: V Glumoff; Marja-Liisa Savontaus; J Vehanen; Eero Vuorio
Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes.
Biochimica et biophysica acta 1994;1219(3):613-22.
1994: K Silander; P Halonen; R Sara; Hannu Kalimo; B Falck; Marja-Liisa Savontaus
DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Journal of neurology, neurosurgery, and psychiatry 1994;57(10):1260-2.
1994: Eeva Nikoskelainen; Marja-Liisa Savontaus; Kirsi Huoponen; Kari Antila; Jaakko Hartiala
Pre-excitation syndrome in Leber's hereditary optic neuropathy.
Lancet 1994;344(8926):857-8.
1994: L Haataja; J Schleutker; A P Laine; M Renlund; Marja-Liisa Savontaus; C Dib; J Weissenbach; Leena Peltonen; Pertti Aula
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
American journal of human genetics 1994;54(6):1042-9.
1994: N Carey; keith jack johnson; P Nokelainen; Leena Peltonen; Marja-Liisa Savontaus; Vesa Juvonen; M Anvret; U Grandell; K Chotai; E Robertson
Meiotic drive at the myotonic dystrophy locus?
Nature genetics 1994;6(2):117-8.
1994: Vesa Juvonen; Kirsi Huoponen; Ann-Christine Syvänen; Eeva Nikoskelainen; Marja-Liisa Savontaus
Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing.
Human genetics 1994;93(1):16-20.
1994: Kirsi Huoponen; Vesa Juvonen; A Iitiä; P Dahlen; H Siitari; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.
Human mutation 1994;3(1):29-36.
1993: Kirsi Huoponen; Tarja Lamminen; Vesa Juvonen; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
Human genetics 1993;92(4):379-84.
1993: Vesa Juvonen; J Vilkki; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
American journal of human genetics 1993;53(1):289-92.
1993: P Nokelainen; P Shelbourne; D Shaw; J David Brook; H G Harley; keith jack johnson; Hannu Somer; Marja-Liisa Savontaus; Leena Peltonen
The DM mutation; diagnostic applications in the Finnish population.
Clinical genetics 1993;43(4):190-5.
1992: Eeva Nikoskelainen; M Asola; H Kalimo; Marja-Liisa Savontaus; A Majander
Benzodiazepine sensitivity in Leber's hereditary optic neuroretinopathy.
Lancet 1992;340(8829):1223-4.
1992: Marja-Liisa Savontaus; Kirsi Huoponen; A Majander; Pertti Aula; Eeva Nikoskelainen
Gene defects in Leber hereditary optic neuroretinopathy.
Biochimica et biophysica acta 1992;1101(2):204-5.
1992: Anu Suomalainen; A Majander; M Haltia; Hannu Somer; J Lönnqvist; Marja-Liisa Savontaus; Leena Peltonen
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
The Journal of clinical investigation 1992;90(1):61-6.
1991: A Majander; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Mårten Wikström
Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
FEBS letters 1991;292(1-2):289-92.
1991: Kirsi Huoponen; J Vilkki; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
American journal of human genetics 1991;48(6):1147-53.
1991: J Vilkki; J Ott; Marja-Liisa Savontaus; Pertti Aula; Eeva Nikoskelainen
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
American journal of human genetics 1991;48(3):486-91.
1991: Eeva Nikoskelainen; J Vilkki; Kirsi Huoponen; Marja-Liisa Savontaus
Recent advances in Leber's hereditary optic neuroretinopathy.
Eye (London, England) 1991;5 ( Pt 3)():291-3.
1990: Kirsi Huoponen; J Vilkki; Marja-Liisa Savontaus; Pertti Aula; Eeva Nikoskelainen
Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
Genomics 1990;8(3):583-5.
1990: P Nokelainen; L Alanen-Kurki; Robert Winqvist; B Falck; Hannu Somer; Jaakko Leisti; keith jack johnson; Marja-Liisa Savontaus; Leena Peltonen
Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population.
Human genetics 1990;85(5):541-5.
1990: J Vilkki; Marja-Liisa Savontaus; Eeva Nikoskelainen
Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.
American journal of human genetics 1990;47(1):95-100.
1990: J Mäenpää; E Lindahl; Pertti Aula; Marja-Liisa Savontaus
Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
Clinical genetics 1990;37(2):141-7.
1990: P Halonen; A Alanen; B Falck; Hannu Kalimo; A Kiuru; H Lang; Marja-Liisa Savontaus; V Sonninen
[Facioscapulohumeral muscular dystrophy].
Duodecim; lääketieteellinen aikakauskirja 1990;106(17):1210-8.
1989: keith jack johnson; P Shelbourne; J Davies; Jessica Louise Buxton; E Nimmo; M Anvret; M Bonduelle; B Williamson; Marja-Liisa Savontaus
Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.
Genomics 1989;5(4):746-51.
1989: J Vilkki; Marja-Liisa Savontaus; Eeva Nikoskelainen
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.
American journal of human genetics 1989;45(2):206-11.
1989: J Vilkki; Marja-Liisa Savontaus; Hannu Kalimo; Eeva Nikoskelainen
Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy.
Human genetics 1989;82(3):208-12.
1989: M Lindlöf; A Kiuru; Helena Kääriäinen; Hannu Kalimo; H Lang; Helena Pihko; Juhani Rapola; Hannu Somer; Mirja Somer; Marja-Liisa Savontaus
Gene deletions in X-linked muscular dystrophy.
American journal of human genetics 1989;44(4):496-503.
1988: keith jack johnson; E Nimmo; P Jones; M Weiss; Marja-Liisa Savontaus; M Anvret; R Bartlett; Allen D Roses; D Shaw; P S Harper
Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q.
Human genetics 1988;80(4):379-81.
1988: Eeva Nikoskelainen; K Nummelin; Marja-Liisa Savontaus
Does sporadic Leber's disease exist?
Journal of clinical neuro-ophthalmology 1988;8(4):225-9.
1988: J Vilkki; Marja-Liisa Savontaus; Eeva Nikoskelainen
Human mitochondrial DNA types in Finland.
Human genetics 1988;80(4):317-21.
1988: Hannu Kalimo; Marja-Liisa Savontaus; H Lang; L Paljärvi; V Sonninen; PB Dean; K Katevuo; A Salminen
X-linked myopathy with excessive autophagy: a new hereditary muscle disease.
Annals of neurology 1988;23(3):258-65.
1988: Petri Saviranta; M Lindlöf; Anna-Elina Lehesjoki; Hannu Kalimo; H Lang; V Sonninen; Marja-Liisa Savontaus; Albert de La Chapelle
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.
American journal of human genetics 1988;42(1):84-8.
1987: V Sonninen; Marja-Liisa Savontaus
Hereditary multi-infarct dementia.
European neurology 1987;27(4):209-15.