Literature DB >> 8755941

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

D A Mackey, R J Oostra, T Rosenberg, E Nikoskelainen, J Bronte-Stewart, J Poulton, A E Harding, G Govan, P A Bolhuis, S Norby.   

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Year:  1996        PMID： 8755941      PMCID： PMC1914749     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  19 in total

1.  A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Authors:  D Mackey; N Howell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

2.  An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Authors:  D R Johns; M J Neufeld; R D Park
Journal:  Biochem Biophys Res Commun       Date:  1992-09-30       Impact factor: 3.575

3.  Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Authors:  M D Brown; A S Voljavec; M T Lott; A Torroni; C C Yang; D C Wallace
Journal:  Genetics       Date:  1992-01       Impact factor: 4.562

4.  Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.

Authors:  M D Brown; J M Shoffner; Y L Kim; A S Jun; B H Graham; M F Cabell; D S Gurley; D C Wallace
Journal:  Am J Med Genet       Date:  1996-01-22

5.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

6.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; J Vilkki; P Aula; E K Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

7.  Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.

Authors:  N Howell; I Kubacka; S Halvorson; D Mackey
Journal:  Genetics       Date:  1993-01       Impact factor: 4.562

8.  High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy.

Authors:  Y Mashima; Y Hiida; Y Oguchi; J Kudoh; N Shimizu
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

9.  Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.

Authors:  R J Oostra; P A Bolhuis; I Zorn-Ende; M M de Kok-Nazaruk; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

10.  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.

Authors:  A S Jun; M D Brown; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-21       Impact factor: 11.205
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  96 in total

Review 1.  Mitochondrial DNA analysis: polymorphisms and pathogenicity.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

2.  Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation.

Authors:  M-Y Yen; C-S Chen; A-G Wang; Y-H Wei
Journal:  Br J Ophthalmol       Date:  2002-09       Impact factor: 4.638

3.  Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

Authors:  Neil Howell; Roelof-Jan Oostra; Piet A Bolhuis; Liesbeth Spruijt; Lorne A Clarke; David A Mackey; Gwen Preston; Corinna Herrnstadt
Journal:  Am J Hum Genet       Date:  2003-05-06       Impact factor: 11.025

4.  The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Authors:  P Yu-Wai-Man; P G Griffiths; D T Brown; N Howell; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2002-01-07       Impact factor: 11.025

Review 5.  Mitochondria.

Authors:  P F Chinnery; E A Schon
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-09       Impact factor: 10.154

6.  [Leber's hereditary optic neuropathy].

Authors:  B Leo-Kottler; B Wissinger
Journal:  Ophthalmologe       Date:  2011-12       Impact factor: 1.059

7.  Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Authors:  Jia Qu; Ying Wang; Yi Tong; Xiangtian Zhou; Fuxin Zhao; Li Yang; Shoukang Zhang; Juanjuan Zhang; Constance E West; Min-Xin Guan
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-04-30       Impact factor: 4.799

8.  Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.

Authors:  Nopasak Phasukkijwatana; Bussaraporn Kunhapan; Jim Stankovich; Wanicha L Chuenkongkaew; Russell Thomson; Timothy Thornton; Melanie Bahlo; Taisei Mushiroda; Yusuke Nakamura; Surakameth Mahasirimongkol; Aung Win Tun; Chatchawan Srisawat; Chanin Limwongse; Chayanon Peerapittayamongkol; Thanyachai Sura; Wichit Suthammarak; Patcharee Lertrit
Journal:  Hum Genet       Date:  2010-04-21       Impact factor: 4.132

9.  Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

Authors:  Yanchun Ji; Min Liang; Juanjuan Zhang; Minglian Zhang; Jinping Zhu; Xiangjuan Meng; Sai Zhang; Min Gao; Fuxin Zhao; Qi-Ping Wei; Pingping Jiang; Yi Tong; Xiaoling Liu; Jun Qin Mo; Min-Xin Guan
Journal:  J Hum Genet       Date:  2014-01-16       Impact factor: 3.172

10.  Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy.

Authors:  Nopasak Phasukkijwatana; Wanicha L Chuenkongkaew; Rungnapa Suphavilai; Komon Luangtrakool; Bussaraporn Kunhapan; Patcharee Lertrit
Journal:  J Hum Genet       Date:  2006-10-28       Impact factor: 3.172
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