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Eeva Nikoskelainen

Research Profile

Disorders

Chemicals & Drugs

DNA, Mitochondrial

Concepts & Ideas

Physiology

Geographic Areas

Finland

Procedures

Anatomy

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Publications

TOP 3
Anu Anttinen; Leena Koulu; Eeva Nikoskelainen; Raija Portin; Timo Kurki; Matti Erkinjuntti; Nicolaas G J Jaspers; Anja Raams; Michael H L Green; Alan Lehmann; Jonathan F Wing; Colin F Arlett; Reijo J Marttila
Neurological symptoms and natural course of xeroderma pigmentosum.
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.
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.

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All Publications

2008: Anu Anttinen; Leena Koulu; Eeva Nikoskelainen; Raija Portin; Timo Kurki; Matti Erkinjuntti; Nicolaas G J Jaspers; Anja Raams; Michael H L Green; Alan Lehmann; Jonathan F Wing; Colin F Arlett; Reijo J Marttila
Neurological symptoms and natural course of xeroderma pigmentosum.
Brain : a journal of neurology 2008;131(Pt 8):1979-89.
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: Susanna Roine; Mika Harju; Tero Kivelä; Minna Pöyhönen; Eeva Nikoskelainen; Seppo Tuisku; Hannu Kalimo; Matti Viitanen; Paula A Summanen
Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study.
Ophthalmology 2006;113(8):1411-7.
2006: Eeva Nikoskelainen; Maija Mäntyjärvi; Anu Puomila
[Not Available].
Duodecim; lääketieteellinen aikakauskirja 2006;122(21):2629-35.
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: Anders Heijl; Peep V Algvere; Albert Alm; Nis Andersen; Birgitta Bauer; Jan-Olof Carlsson; Berndt Ehinger; Nils Eide; Hans C Fledelius; Michael Foerster; Jesper Hjortdal; Gerd Holmström; Gunnar Høvding; Tero Kivelä; Morten la Cour; Bertil Lindblom; Torben Møller-Pedersen; Eeva Nikoskelainen; Jan Ulrik Prause; Ruth Riise; Thomas Rosenberg; Stefan Seregard; Einar Stefánsson; Ahti Tarkkanen; Timo M T Tervo; Kristina Tornqvist; Charlotta Zetterström
Nordic research in ophthalmology.
Acta ophthalmologica Scandinavica 2005;83(3):278-88.
2004: Mika Harju; Susanna Tuominen; Paula Summanen; Matti Viitanen; Minna Pöyhönen; Eeva Nikoskelainen; Hannu Kalimo; Tero Kivelä
Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL.
Stroke; a journal of cerebral circulation 2004;35(11):2449-52.
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: 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.
2001: Kaija Peltola; Kirsti Näntö-Salonen; Olli Heinonen; Satu Jääskeläinen; K Heinänen; Olli Simell; Eeva Nikoskelainen
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
Ophthalmology 2001;108(4):721-9.
1999: K Heinänen; Kirsti Näntö-Salonen; Markku Komu; M Erkintalo; Anna Alanen; Olli Heinonen; Kari Pulkki; Eeva Nikoskelainen; I Sipilä; Olli Simell
Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia.
European journal of clinical investigation 1999;29(12):1060-5.
1999: Reetta Kälviäinen; I Nousiainen; Maija Mäntyjärvi; Eeva Nikoskelainen; J Partanen; Kaarina Partanen; PJ Riekkinen
Vigabatrin, a gabaergic antiepileptic drug, causes concentric visual field defects.
Neurology 1999;53(5):922-6.
1999: K Heinänen; Kirsti Näntö-Salonen; Markku Komu; M Erkintalo; Olli Heinonen; Kari Pulkki; Mika Valtonen; Eeva Nikoskelainen; Anna Alanen; Olli Simell
Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia--clues to pathogenesis.
European journal of clinical investigation 1999;29(5):426-31.
1998: Tiina Tyni; Tero Kivelä; Marjatta Lappi; Paula Summanen; Eeva Nikoskelainen; Helena Pihko
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Ophthalmology 1998;105(5):810-24.
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: Eeva Nikoskelainen; Marja-Liisa Savontaus
[Leber's optic neuropathy: a mitochondrial disease revealing its secret].
Duodecim; lääketieteellinen aikakauskirja 1998;114(3):303-6.
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: 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: 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: 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: 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.
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: Tarja Lamminen; A Majander; Vesa Juvonen; Mårten Wikström; Pertti Aula; Eeva Nikoskelainen; M L Savontous
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.
American journal of human genetics 1995;56(5):1238-40.
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: 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.
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.
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: 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: Eeva-Marja Sankila; G A Bruns; M Schwartz; Eeva Nikoskelainen; E Niebuhr; S V Hodgson; A F Wright; Albert de La Chapelle
DXS26 (HU16) is located in Xq21.1.
Human genetics 1990;85(1):117-20.
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.
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.
1985: Eeva Nikoskelainen; W F Hoyt; K Nummelin
Fundus findings in Leber's hereditary optic neuroretinopathy.
Ophthalmic paediatrics and genetics 1985;5(1-2):125-30.
1984: Eeva Nikoskelainen; W F Hoyt; K Nummelin; H Schatz
Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies.
Archives of ophthalmology 1984;102(7):981-9.
1983: Eeva Nikoskelainen; W F Hoyt; K Nummelin
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members.
Archives of ophthalmology 1983;101(7):1059-68.
1982: Eeva Nikoskelainen; W F Hoyt; K Nummelin
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members.
Archives of ophthalmology 1982;100(10):1597-602.