Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy (original) (raw)

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy

1996

Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

American Journal of Human Genetics, 2003

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J

Michael Brown

Human Genetics, 2002

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Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy

Diana Lyrawati

Journal of Human Genetics, 2002

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Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation

Pietro Cortelli

Brain, 2000

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Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Qingjiong Zhang

Journal of Translational Medicine, 2012

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Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Ewa Bartnik

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Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Qingjiong Zhang

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High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients

Claudio Bravi

… and biophysical research …, 2007

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Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

Søren Nørby, Patrick Man

Journal of Medical Genetics, 2004

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A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family

Theodore Schurr

Biochemical and Biophysical Research Communications, 2005

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Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings

Roelof-Jan Oostra

American journal of human genetics, 1995

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Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation

Qingjiong Zhang

The American Journal of Human Genetics, 2008

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Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484

Vincenzo Leuzzi

American journal of human genetics, 1997

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Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese

Qingjiong Zhang

Biochemical and Biophysical Research Communications, 2009

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Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

Carmen Ayuso

PloS one, 2016

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Torroni, A., Petrozzi, M., Durbano, L., Sellitto, D., Zeviani, M., Carrara, F. et al. Haplotype and phylogenetic analyses suggest that one european-specific mtdna background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 1...

L. D'Urbano

The American Journal of Human Genetics

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A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation

Ivan Bodis-wollner

American journal of human genetics, 1994

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Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India

Arun Taly

Investigative Opthalmology & Visual Science

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Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers: Figure 1

Julio Montoya

Brain, 2015

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Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

Vilma Kaplanova

Journal of the Neurological Sciences, 2004

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Assessing Heteroplasmic Load in Leber's Hereditary Optic Neuropathy Mutation 3460G→A/MT-ND1 with A Real-Time PCR Quantitative Approach

Alberto Giuseppe Passi

The Journal of Molecular Diagnostics, 2007

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ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait

Motasem Melhem

British Journal of Ophthalmology, 2014

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Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

Stylianos Antonarakis

American Journal of Medical Genetics, 1992

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Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy (original) (raw)

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