Literature DB >> 15635063

A third locus for dominant optic atrophy on chromosome 22q.

F Barbet, S Hakiki, C Orssaud, S Gerber, I Perrault, S Hanein, D Ducroq, J-L Dufier, A Munnich, J Kaplan, J-M Rozet.   

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Year:  2005        PMID： 15635063      PMCID： PMC1735912          DOI： 10.1136/jmg.2004.025502

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


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  19 in total

Review 1.  Dominant optic atrophy.

Authors:  Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

2.  Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Authors:  Huajin Li; Evan M Jones; Hui Li; Lizhu Yang; Zixi Sun; Zhisheng Yuan; Rui Chen; Fangtian Dong; Ruifang Sui
Journal:  Ophthalmic Genet       Date:  2018-06-28       Impact factor: 1.803

Review 3.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

4.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

5.  Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Authors:  H Eiberg; L Hansen; B Kjer; T Hansen; O Pedersen; M Bille; T Rosenberg; L Tranebjaerg
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

Review 6.  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

7.  Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Authors:  Gitte J Almind; Karen Grønskov; Dan Milea; Michael Larsen; Karen Brøndum-Nielsen; Jakob Ek
Journal:  BMC Med Genet       Date:  2011-04-04       Impact factor: 2.103

8.  A genome-wide association study of optic disc parameters.

Authors:  Wishal D Ramdas; Leonieke M E van Koolwijk; M Kamran Ikram; Nomdo M Jansonius; Paulus T V M de Jong; Arthur A B Bergen; Aaron Isaacs; Najaf Amin; Yurii S Aulchenko; Roger C W Wolfs; Albert Hofman; Fernando Rivadeneira; Ben A Oostra; Andre G Uitterlinden; Pirro Hysi; Christopher J Hammond; Hans G Lemij; Johannes R Vingerling; Caroline C W Klaver; Cornelia M van Duijn
Journal:  PLoS Genet       Date:  2010-06-10       Impact factor: 5.917

9.  Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Authors:  Nico Fuhrmann; Simone Schimpf; York Kamenisch; Beate Leo-Kottler; Christiane Alexander; Georg Auburger; Eberhart Zrenner; Bernd Wissinger; Marcel V Alavi
Journal:  Mol Neurodegener       Date:  2010-06-14       Impact factor: 14.195

10.  Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Authors:  Yang Li; Ting Deng; Yi Tong; Shuling Peng; Bing Dong; Dacheng He
Journal:  Mol Vis       Date:  2008-12-29       Impact factor: 2.367
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