Literature DB >> 12843334

Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.

R W Taylor1, M S Jobling, D M Turnbull, P F Chinnery.   

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Year:  2003        PMID： 12843334      PMCID： PMC1735533          DOI： 10.1136/jmg.40.7.e85

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.

Authors:  Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal:  J Hum Genet       Date:  2006-09-14       Impact factor: 3.172

Review 2.  The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.

Authors:  Hans-Jürgen Bandelt; Anita Kloss-Brandstätter; Martin B Richards; Yong-Gang Yao; Ian Logan
Journal:  J Hum Genet       Date:  2013-12-05       Impact factor: 3.172

3.  Regulation of glutamine carrier proteins by RNF5 determines breast cancer response to ER stress-inducing chemotherapies.

Authors:  Young Joo Jeon; Sihem Khelifa; Boris Ratnikov; David A Scott; Yongmei Feng; Fabio Parisi; Chelsea Ruller; Eric Lau; Hyungsoo Kim; Laurence M Brill; Tingting Jiang; David L Rimm; Robert D Cardiff; Gordon B Mills; Jeffrey W Smith; Andrei L Osterman; Yuval Kluger; Ze'ev A Ronai
Journal:  Cancer Cell       Date:  2015-03-09       Impact factor: 31.743

Review 4.  Pathogenic mechanism and modeling of neuroferritinopathy.

Authors:  Anna Cozzi; Paolo Santambrogio; Maddalena Ripamonti; Ermanna Rovida; Sonia Levi
Journal:  Cell Mol Life Sci       Date:  2021-01-13       Impact factor: 9.261

Review 5.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

6.  Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy.

Authors:  Martina Jarc-Vidmar; Mojca Tajnik; Jelka Brecelj; Ana Fakin; Maja Sustar; Mateja Naji; Branka Stirn-Kranjc; Damjan Glavač; Marko Hawlina
Journal:  Doc Ophthalmol       Date:  2015-02-19       Impact factor: 2.379

7.  Point mutations associated with Leber hereditary optic neuropathy in a Latvian population.

Authors:  Aleksandra Aitullina; Kristine Baumane; Solveiga Zalite; Renate Ranka; Egija Zole; Ilva Pole; Svetlana Sepetiene; Guna Laganovska; Viesturs Baumanis; Liana Pliss
Journal:  Mol Vis       Date:  2013-11-21       Impact factor: 2.367

8.  ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.

Authors:  Raed Behbehani; Motasem Melhem; Ghazi Alghanim; Kazem Behbehani; Osama Alsmadi
Journal:  Br J Ophthalmol       Date:  2014-02-25       Impact factor: 4.638

9.  Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy.

Authors:  Manoj Kumar; Punit Kaur; Manoj Kumar; Rohit Saxena; Pradeep Sharma; Rima Dada
Journal:  Mol Vis       Date:  2012-11-12       Impact factor: 2.367

Review 10.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318
  10 in total

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