Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber’s hereditary optic neuropathy (original) (raw)
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
Roelof-Jan Oostra
1996
View PDFchevron_right
Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy
MD nahid Khan
Molecular vision, 2013
View PDFchevron_right
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
View PDFchevron_right
Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
Qingjiong Zhang
Journal of Translational Medicine, 2012
View PDFchevron_right
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
View PDFchevron_right
Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
Qingjiong Zhang
Journal of Translational Medicine, 2012
View PDFchevron_right
Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese
Qingjiong Zhang
Biochemical and Biophysical Research Communications, 2009
View PDFchevron_right
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy
Alessandro Achilli, Piero Barboni, Maria Pala
PLoS ONE, 2012
View PDFchevron_right
Leber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India
Arun Taly
Investigative Opthalmology & Visual Science
View PDFchevron_right
LETTER TO THE EDITOR Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers
Vittoria Petruzzella
View PDFchevron_right
Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers: Figure 1
Julio Montoya
Brain, 2015
View PDFchevron_right
Biochemistry and Molecular Biology High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON
V. Petruzzella
View PDFchevron_right
Leber's Hereditary Optic NeuropathyâThe Spectrum of Mitochondrial DNA Mutations in Chinese Patients
Yau-huei Wei, May-yung Yen
Japanese Journal of Ophthalmology, 2002
View PDFchevron_right
Leber’s hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
Bing Lin
Biochemical and Biophysical Research Communications, 2006
View PDFchevron_right
Exclusive Homoplasmic 11778 Mutation in Mitochondrial DNA of Chinese Patients With Leber's Hereditary Optic Neuropathy
Yau-huei Wei, May-yung Yen
Japanese Journal of Ophthalmology, 1999
View PDFchevron_right
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
Søren Nørby, Patrick Man
Journal of Medical Genetics, 2004
View PDFchevron_right
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
Qingjiong Zhang
Journal of Human Genetics, 2006
View PDFchevron_right
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
View PDFchevron_right
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy
Stylianos Antonarakis
American Journal of Medical Genetics, 1992
View PDFchevron_right
Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
Alessandro Achilli
The American Journal of Human Genetics, 2007
View PDFchevron_right
Mitochondrial Haplogroup Background May Influence Southeast Asian G11778A Leber Hereditary Optic Neuropathy
supannee kaewsutthi
Investigative Ophthalmology & Visual Science, 2011
View PDFchevron_right
Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
Marie Lott
Faseb Journal Official Publication of the Federation of American Societies For Experimental Biology, 1992
View PDFchevron_right
A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy
Yasutoshi Koga
Mitochondrion, 2005
View PDFchevron_right
Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy
myung kim
Investigative ophthalmology & visual science, 2014
View PDFchevron_right
Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy
Qingjiong Zhang
Molecular vision
View PDFchevron_right
Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy
Herawati Sudoyo
Journal of human genetics, 2002
View PDFchevron_right