Literature DB >> 12464728

From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.

Nancy J Newman.   

Abstract

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Year:  2002        PMID： 12464728     DOI： 10.1097/00041327-200212000-00001

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


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  10 in total

1.  Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Authors:  Gavin Hudson; Sharon Keers; Patrick Yu-Wai-Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; Hubert J M Smeets; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2005-10-11       Impact factor: 11.025

2.  Leber hereditary optic neuropathy: bad habits, bad vision?

Authors:  Nancy J Newman
Journal:  Brain       Date:  2009-09       Impact factor: 13.501

3.  A Meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis.

Authors:  Dong-Yu Guo; Xia-Wei Wang; Nan Hong; Yang-Shun Gu
Journal:  Int J Ophthalmol       Date:  2016-10-18       Impact factor: 1.779

4.  Patterns of white matter diffusivity abnormalities in Leber's hereditary optic neuropathy: a tract-based spatial statistics study.

Authors:  Jacopo Milesi; Maria A Rocca; Stefania Bianchi-Marzoli; Melissa Petrolini; Elisabetta Pagani; Andrea Falini; Giancarlo Comi; Massimo Filippi
Journal:  J Neurol       Date:  2012-01-17       Impact factor: 4.849

5.  Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.

Authors:  Yanli Ji; Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal:  Mol Vis       Date:  2010-03-11       Impact factor: 2.367

6.  Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.

Authors:  Ying Dai; Kangni Zheng; Joanne Clark; Russell H Swerdlow; Stefan M Pulst; James P Sutton; Leslie A Shinobu; David K Simon
Journal:  Hum Mol Genet       Date:  2013-09-18       Impact factor: 6.150

7.  Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Authors:  Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo A Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; Patrick Yu-Wai-Man; Rene F M de Coo; Rita Horvath; Massimo Zeviani; Hubert J T Smeets; Antonio Torroni; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

8.  Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.

Authors:  Marcela Scabello Amaral-Fernandes; Ana Maria Marcondes; Paulo Maurício do Amor Divino Miranda; Andréa Trevas Maciel-Guerra; Edi Lúcia Sartorato
Journal:  Mol Vis       Date:  2011-12-07       Impact factor: 2.367

9.  Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy.

Authors:  Paulo Maurício do Amôr Divino Miranda; Sueli Matilde da Silva-Costa; Juliane Cristina Balieiro; Marcela Scabello Amaral Fernandes; Rogério Marins Alves; Andrea Trevas Maciel Guerra; Ana Maria Marcondes; Edi Lúcia Sartorato
Journal:  Mol Vis       Date:  2016-08-13       Impact factor: 2.367

10.  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
  10 in total

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