Search Results - "Nikoskelainen, E K"

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy by Nikoskelainen, E K, Marttila, R J, Huoponen, K, Juvonen, V, Lamminen, T, Sonninen, P, Savontaus, M L

“…Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves…”
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A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy by HUOPONEN, K, VILKKI, J, AULA, P, NIKOSKELAINEN, E. K, SAVONTAUS, M.-L

“…A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic…”
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Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations by Nikoskelainen, E K, Huoponen, K, Juvonen, V, Lamminen, T, Nummelin, K, Savontaus, M L

“…Leber hereditary optic neuropathy (LHON) is associated with primary and secondary mutations in mitochondrial DNA. Clinical studies suggest that there is a wide…”
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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy by Wallace, Douglas C., Singh, Gurparkash, Lott, Marie T., Hodge, Judy A., Schurr, Theodore G., Angela M. S. Lezza, Elsas, Louis J., Nikoskelainen, Eeva K.

“…Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA…”
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Pre-excitation syndrome in Leber's hereditary optic neuropathy by Nikoskelainen, E K, Savontaus, M L, Huoponen, K, Antila, K, Hartiala, J

“…Pre-excitation syndrome is common in families with Leber's hereditary optic neuropathy (LHON). 24 Finnish families with LHON were screened for the 11778 and…”
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Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism by VILKKI, J, SAVONTAUS, M.-L, NIKOSKELAINEN, E. K

“…The presence or absence of a recently observed mitochondrial DNA (mtDNA) mutation associated with Leber hereditary optic neuroretinopathy (LHON) was tested in…”
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Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7 by VILKKI, J, OTT, J, SAVONTAUS, M.-L, AULA, P, NIKOSKELAINEN, E. K

“…Leber hereditary optic neuroretinopathy (LHON) is a maternally inherited disease, probably transmitted by mutations in mtDNA. The variation in the clinical…”
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Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy by VIKKI, J, SAVONTAUS, M.-L, NIKOSKELAINEN, E. K

“…Relatively little is known about the factors maintaining mitochondrial DNA (mtDNA) sequence diversity in humans. A detailed understanding of the transmission…”
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Human mitochondrial DNA types in Finland by VILKKI, J, SAVONTAUS, M.-L, NIKOSKELAINEN, E. K

“…Variation in mitochondrial DNA (mtDNA) in a sample of 110 Finns was analyzed with six restriction enzymes, AvaII, BamHI, HaeII, HindII, HpaI, and MspI, by…”
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Mitochondrial DNA polymorphism in finnish families with Leber's hereditary optic neuroretinopathy by VILKKI, J, SAVONTAUS, M.-L, KALIMO, H, NIKOSKELAINEN, E. K

“…Leukocyte mitochondrial DNA (mtDNA) from 17 Finnish families with Leber's hereditary optic neuroretinopathy and 70 maternally unrelated controls as well as…”
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Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy by Huoponen, K, Vilkki, J, Savontaus, M L, Aula, P, Nikoskelainen, E K

“…A mutation in the mitochondrial DNA at nt 11,778 has recently been found in Leber hereditary optic neuroretinopathy (LHON), a maternally inherited ocular…”
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Gene defects in Leber hereditary optic neuroretinopathy by Savontaus, M L, Huoponen, K, Majander, A, Aula, P, Nikoskelainen, E K

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Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees by Nikoskelainen, E K, Savontaus, M L, Wanne, O P, Katila, M J, Nummelin, K U

“…Previous genealogic studies of Leber's disease have focused on affected individuals with optic atrophy. Despite its diagnostic importance, peripapillary…”
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Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, With Special Reference to mtDNA Mutations by EK, Nikoskelainen, K, Huoponen, V, Juvonen, T, Lamminen, K, Nummelin, ML, Savontaus

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Metastatic breast cancer in ophthalmology by Nikoskelainen, E K, Nordman, E

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