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

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

American journal of human genetics, 1994

Heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation

The American Journal of Human Genetics

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Qingjiong Zhang

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

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Journal of the Neurological Sciences, 2004

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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 haplogroup distribution within Leber hereditary optic neuropathy pedigrees

Søren Nørby, Patrick Man

Journal of Medical Genetics, 2004

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Diana Lyrawati

Journal of Human Genetics, 2002

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Roelof-Jan Oostra

1996

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Qingjiong Zhang

Journal of Translational Medicine, 2012

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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

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The American Journal of Human Genetics, 2008

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

Alessandro Achilli, Piero Barboni, Maria Pala

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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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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

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American journal of human genetics, 1995

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De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology

Theodore Schurr

Journal of Human Genetics, 2006

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Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

Qingjiong Zhang

PLoS ONE, 2011

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Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T>C

Qingjiong Zhang

PLoS ONE, 2010

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Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

Fred N Ross-Cisneros

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The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation

Vladimir Mayorov

Annals of Neurology, 2005

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Biochemistry and Molecular Biology High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON

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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

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LETTER TO THE EDITOR Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers

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Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

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BMC Research Notes, 2018

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

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