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Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

European journal of human genetics : EJHG, 2007-10, Vol.15 (10), p.1079-1089

2007

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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Science (American Association for the Advancement of Science), 1988-12, Vol.242 (4884), p.1427-1430

1988

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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

American journal of human genetics, 2007-08, Vol.81 (2), p.228-233

2007

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Neurological symptoms and natural course of xeroderma pigmentosum

Brain (London, England : 1878), 2008-08, Vol.131 (8), p.1979-1989

2008

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

American journal of human genetics, 2005-12, Vol.77 (6), p.1086-1091

2005

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

FEBS letters, 1997-07, Vol.412 (2), p.351-354

1997

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Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation

Ophthalmology (Rochester, Minn.), 1998-05, Vol.105 (5), p.810-824

1998

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Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy : A cross-sectional study

Ophthalmology (Rochester, Minn.), 2006-08, Vol.113 (8), p.1411-1417

2006

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

Ophthalmology (Rochester, Minn.), 1996-03, Vol.103 (3), p.504-514

1996

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Dominant optic atrophy: correlation between clinical and molecular genetic studies

Acta ophthalmologica Scandinavica, 2005-06, Vol.83 (3), p.337-346

2005

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Scanning Laser Doppler Flowmetry Shows Reduced Retinal Capillary Blood Flow in CADASIL

Stroke (1970), 2004-11, Vol.35 (11), p.2449-2452

2004

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Leber hereditary optic neuropathy

Current opinion in ophthalmology, 1991-10, Vol.2 (5), p.531-537

Nikoskelainen, Eeva K

1991

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Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation: A new type of hereditary metabolic chorioretinopathy

Ophthalmology (Rochester, Minn.), 1998-05, Vol.105 (5), p.810-824

1998

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Ophthalmologic Findings in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Ophthalmology (Rochester, Minn.), 2006-08, Vol.113 (8), p.1411-1417.e2

2006

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Neurological symptoms and natural course of xeroderma pigmentosum. Commentary

Brain (London, England : 1878), 2008, Vol.131

2008

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

Journal of the neurological sciences, 2002-12, Vol.205 (1), p.41-45

2002

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An expanded CAG repeat sequence in spinocerebellar ataxia type 7

Genome research, 1996-10, Vol.6 (10), p.965-971

1996

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Pre-excitation syndrome in Leber's hereditary optic neuropathy

The Lancet (British edition), 1994-09, Vol.344 (8926), p.857-858

1994

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Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase

Ophthalmology (Rochester, Minn.), 2001-04, Vol.108 (4), p.721-729

2001

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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, 1991-11, Vol.292 (1), p.289-292

1991

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New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease

Neurology, 1984-11, Vol.34 (11), p.1482-1482

Nikoskelainen, E

1984

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Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7

American journal of human genetics, 1991-03, Vol.48 (3), p.486-491

1991

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mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy

European journal of human genetics : EJHG, 1997-09, Vol.5 (5), p.271-279

1997

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Metabolic mitochondrial dysfunction results in hereditary optic nerve atrophy

Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980), 2000, Vol.24 (4), p.497-502

Nikoskelainen, Eeva

2000

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The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

Human genetics, 1993-10, Vol.92 (4), p.379-384

1993

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Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Neurological symptoms and natural course of xeroderma pigmentosum

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

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

Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation

Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy : A cross-sectional study

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

Dominant optic atrophy: correlation between clinical and molecular genetic studies

Scanning Laser Doppler Flowmetry Shows Reduced Retinal Capillary Blood Flow in CADASIL

Leber hereditary optic neuropathy

Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation: A new type of hereditary metabolic chorioretinopathy

Ophthalmologic Findings in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Neurological symptoms and natural course of xeroderma pigmentosum. Commentary

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

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

Pre-excitation syndrome in Leber's hereditary optic neuropathy

Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase

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

New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7

mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy

Metabolic mitochondrial dysfunction results in hereditary optic nerve atrophy

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

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