A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy

Human Mutation ◽

10.1002/(sici)1098-1004(200001)15:1<120::aid-humu33>3.0.co;2-8 ◽

2000 ◽

Vol 15 (1) ◽

pp. 120-121 ◽

Author(s):

Jose-Raul Garcia-Lozano ◽

Isabel Aguilera ◽

Juan Bautista ◽

Antonio Nu�ez-Roldan

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy

New England Journal of Medicine ◽

10.1056/nejm198905183202002 ◽

1989 ◽

Vol 320 (20) ◽

pp. 1300-1305 ◽

Author(s):

Gurparkash Singh ◽

Marie T. Lott ◽

Douglas C. Wallace

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.61.5.533 ◽

1996 ◽

Vol 61 (5) ◽

pp. 533-534 ◽

Author(s):

B Funalot ◽

D Ranoux ◽

J L Mas ◽

C Garcia ◽

J P Bonnefont

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation

Journal of Biological Chemistry ◽

10.1074/jbc.m006476200 ◽

2000 ◽

Vol 275 (51) ◽

pp. 39831-39836 ◽

Author(s):

Michael D. Brown ◽

Ian A. Trounce ◽

Albert S. Jun ◽

Jon C. Allen ◽

Douglas C. Wallace

Keyword(s):

Functional Analysis ◽

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(99)00088-x ◽

1999 ◽

Vol 165 (1) ◽

pp. 10-17 ◽

Author(s):

H.R Cock ◽

J.M Cooper ◽

A.H.V Schapira

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Functional Consequences ◽

Hereditary Optic Neuropathy

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

Science ◽

10.1126/science.3201231 ◽

1988 ◽

Vol 242 (4884) ◽

pp. 1427-1430 ◽

Cited By ~ 1451

Author(s):

D. Wallace ◽

G Singh ◽

M. Lott ◽

J. Hodge ◽

T. Schurr ◽

...

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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OCCURRENCE OF A MULTIPLE SCLEROSIS-LIKE ILLNESS IN WOMEN WHO HAVE A LEBER'S HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNA MUTATION

Brain ◽

10.1093/brain/115.4.979 ◽

1992 ◽

Vol 115 (4) ◽

pp. 979-989 ◽

Author(s):

A. E. HARDING ◽

M. G. SWEENEY ◽

D. H. MILLER ◽

C. J. MUMFORD ◽

H. KELLAR-WOOD ◽

...

Keyword(s):

Multiple Sclerosis ◽

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

Human Molecular Genetics ◽

10.1093/hmg/ddv498 ◽

2015 ◽

Vol 25 (3) ◽

pp. 584-596 ◽

Author(s):

Pingping Jiang ◽

Xiaofen Jin ◽

Yanyan Peng ◽

Meng Wang ◽

Hao Liu ◽

...

Keyword(s):

Mitochondrial Dna ◽

Exome Sequencing ◽

Optic Neuropathy ◽

Trna Synthetase ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Phenotypic Manifestation ◽

Hereditary Optic Neuropathy

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Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy

Human Genetics ◽

10.1007/bf00204937 ◽

1991 ◽

Vol 88 (1) ◽

pp. 98-100 ◽

Author(s):

B.A. Kormann ◽

H. Schuster ◽

T.A. Berninger ◽

B. Leo-Kottler

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

Download Full-text

Visual Prognosis of Leber's Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans

Journal of the Korean Ophthalmological Society ◽

10.3341/jkos.2012.53.1.151 ◽

2012 ◽

Vol 53 (1) ◽

pp. 151

Author(s):

Mi Jeung Kim ◽

Sung Sup Park ◽

Jeong-Min Hwang

Keyword(s):

Mitochondrial Dna ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Visual Prognosis ◽

Dna Mutation ◽

Hereditary Optic Neuropathy

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White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation

European Journal of Paediatric Neurology ◽

10.1053/ejpn.2001.0558 ◽

2002 ◽

Vol 6 (2) ◽

pp. 121-123 ◽

Author(s):

D LEV ◽

M YANOOV-SHARAV ◽

N WATEMBERG ◽

E LESHINSKY-SILVER ◽

T LERMAN-SAGIE

Keyword(s):

Mitochondrial Dna ◽

White Matter ◽

Optic Neuropathy ◽

Leber’S Hereditary Optic Neuropathy ◽

Leber's Hereditary Optic Neuropathy ◽

Mitochondrial Dna Mutation ◽

Dna Mutation ◽

White Matter Abnormalities ◽

Hereditary Optic Neuropathy

Download Full-text