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

Dna Mutation ◽

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.91.13.6206 ◽

1994 ◽

Vol 91 (13) ◽

pp. 6206-6210 ◽

Cited By ~ 192

Author(s):

A. S. Jun ◽

M. D. Brown ◽

D. C. Wallace

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Nadh Dehydrogenase ◽

Nadh Dehydrogenase Subunit ◽

Nucleotide Pair ◽

Dna Mutation ◽

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

Journal of Translational Medicine ◽

10.1186/1479-5876-10-43 ◽

2012 ◽

Vol 10 (1) ◽

Cited By ~ 11

Author(s):

A-Mei Zhang ◽

Xiaoyun Jia ◽

Xiangming Guo ◽

Qingjiong Zhang ◽

Yong-Gang Yao

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Chinese Patients ◽

Dna Mutation ◽

The Mitochondrial DNA Mutation ND6*14,484C Associated with Leber Hereditary Optic Neuropathy, Leads to Deficiency of Complex I of the Respiratory Chain

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1995.2563 ◽

1995 ◽

Vol 215 (3) ◽

pp. 1001-1005 ◽

Cited By ~ 26

Author(s):

R.J. Oostra ◽

M.J.M. Vangalen ◽

P.A. Bolhuis ◽

E.M. Bleekerwagemakers ◽

C. Vandenbogert

Keyword(s):

Mitochondrial Dna ◽

Respiratory Chain ◽

Optic Neuropathy ◽

Complex I ◽

Dna Mutation ◽

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

Human Genetics ◽

10.1007/bf00201733 ◽

1991 ◽

Vol 87 (6) ◽

pp. 725-727 ◽

Cited By ~ 5

Author(s):

Carla Carducci ◽

Vincenzo Leuzzi ◽

Massimo Scuderi ◽

Anna Maria De Negri ◽

Corrado Balacco Gabrieli ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Italian Family ◽

An ND-6 mitochondrial DNA mutation associated with leber hereditary optic neuropathy

Biochemical and Biophysical Research Communications ◽

10.1016/0006-291x(92)90479-5 ◽

1992 ◽

Vol 187 (3) ◽

pp. 1551-1557 ◽

Cited By ~ 201

Author(s):

Donald R. Johns ◽

Michael J. Neufeld ◽

Raymond D. Park

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation

Journal of Neuro-Ophthalmology ◽

10.1097/wno.0000000000001045 ◽

2020 ◽

Vol 40 (4) ◽

pp. 547-557 ◽

Cited By ~ 2

Author(s):

Nancy J. Newman ◽

Valerio Carelli ◽

Magali Taiel ◽

Patrick Yu-Wai-Man

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Visual Outcomes ◽

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2011.02.014 ◽

2011 ◽

Vol 103 (2) ◽

pp. 153-160 ◽

Cited By ~ 12

Author(s):

Gary Fruhman ◽

Megan L. Landsverk ◽

Timothy E. Lotze ◽

Jill V. Hunter ◽

Michael F. Wangler ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leigh Syndrome ◽

Atypical Presentation ◽

Dna Mutation ◽

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

American Journal of Medical Genetics ◽

10.1002/1096-8628(20010122)98:3<235::aid-ajmg1086>3.0.co;2-o ◽

2001 ◽

Vol 98 (3) ◽

pp. 235-243 ◽

Cited By ~ 82

Author(s):

Patrick F. Chinnery ◽

Richard M. Andrews ◽

Douglass M. Turnbull ◽

Neil Howell

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation

Canadian Journal of Ophthalmology ◽

10.1016/j.jcjo.2020.12.022 ◽

2021 ◽

Author(s):

Han Peng Zhou ◽

Hitoshi Ishikawa ◽

Ryoma Yasumoto ◽

Keizo Sakurai ◽

Hiromasa Sawamura

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽

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

Biochemical and Biophysical Research Communications ◽

10.1016/j.bbrc.2009.06.051 ◽

2009 ◽

Vol 386 (2) ◽

pp. 392-395 ◽

Cited By ~ 11

Author(s):

A-Mei Zhang ◽

Yang Zou ◽

Xiangming Guo ◽

Xiaoyun Jia ◽

Qingjiong Zhang ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Dna Mutation ◽