Literature DB >> 17579882

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Yuriko Ban, Yusuke Yoshida, Satoshi Kawasaki, Chikako Mochida.   

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Year:  2007        PMID： 17579882     DOI： 10.1007/s00417-007-0598-1

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


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  5 in total

1.  Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Authors:  N J Marchbank; J E Craig; J P Leek; M Toohey; A J Churchill; A F Markham; D A Mackey; C Toomes; C F Inglehearn
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

2.  OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Authors:  U E Pesch; B Leo-Kottler; S Mayer; B Jurklies; U Kellner; E Apfelstedt-Sylla; E Zrenner; C Alexander; B Wissinger
Journal:  Hum Mol Genet       Date:  2001-06-15       Impact factor: 6.150

3.  OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Authors:  C Alexander; M Votruba; U E Pesch; D L Thiselton; S Mayer; A Moore; M Rodriguez; U Kellner; B Leo-Kottler; G Auburger; S S Bhattacharya; B Wissinger
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

Review 4.  OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Authors:  Cécile Delettre; Guy Lenaers; Laeticia Pelloquin; Pascale Belenguer; Christian P Hamel
Journal:  Mol Genet Metab       Date:  2002-02       Impact factor: 4.797

5.  Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Authors:  Makoto Nakamura; Jian Lin; Shinji Ueno; Ryo Asaoka; Toshie Hirai; Yoshihiro Hotta; Yozo Miyake; Hiroko Terasaki
Journal:  Ophthalmology       Date:  2006-03       Impact factor: 12.079
  5 in total
  1 in total

1.  Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.

Authors:  Eric D Gaier; Katherine Boudreault; Isao Nakata; Maria Janessian; Philip Skidd; Elizabeth DelBono; Keri F Allen; Louis R Pasquale; Emily Place; Dean M Cestari; Rebecca C Stacy; Joseph F Rizzo; Janey L Wiggs
Journal:  Mol Vis       Date:  2017-08-10       Impact factor: 2.367
  1 in total

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