Heteroplasmy Rates of the m.14495A>G variant in MT-ND6 May Not Predict the Phenotype of LHON (original) (raw)
Heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation
Ivan Bodis-wollner
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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Genetics Haplogroup Heterogeneity of LHON Patients Carrying the m . 14484 T > C Mutation in India
Arun Taly
2013
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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 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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The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations
Qingjiong Zhang
Biochemical and Biophysical Research Communications, 2010
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Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion
Fred N Ross-Cisneros
Brain : a journal of neurology, 2015
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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
V. Petruzzella
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Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation
Roelof-Jan Oostra
Human Genetics, 1994
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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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Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy
Qingjiong Zhang
neurogenetics, 2010
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The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J
seyed fazel Hosseini
Human Genetics, 2002
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Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India
Nahid Khan
Investigative Opthalmology & Visual Science, 2013
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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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Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
Søren Nørby, Patrick Man
Journal of Medical Genetics, 2004
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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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Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study
F. Sadun
British Journal of Ophthalmology, 2006
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Mitochondrial abnormailities in patients with LHON-like optic neuropathies
THOMAS M BOSLEY
2009
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Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
Michael Brown
American Journal of Medical Genetics, 2001
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Genetics and treatment of Leber' s hereditary optic neuropathy (LHON)
Umur A. Kayabasi
2014
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LHON mutations in Italian patients affected by multiple sclerosis
Vincenzo Leuzzi
Acta Neurologica Scandinavica, 2009
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Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers
Alessio Valletti
BMC Research Notes, 2018
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Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation—A case report
Paula García
European Journal of Paediatric Neurology, 2007
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Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
Roelof-Jan Oostra
1996
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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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Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient
mariachiara sensi
Journal of The Neurological Sciences, 1998
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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
Vittoria Petruzzella
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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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Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber’s hereditary optic neuropathy
Qingjiong Zhang
Biochemical and Biophysical Research Communications, 2008
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