Literature DB >> 16021496

Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation.

Makoto Nakamura, Yozo Miyake.   

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Year:  2005        PMID： 16021496     DOI： 10.1007/s00417-005-0050-3

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


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  6 in total

1.  Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.

Authors:  P KJER
Journal:  Acta Ophthalmol Suppl       Date:  1959

2.  Familial optic atrophy with negative electroretinograms.

Authors:  R G Weleber; Y Miyake
Journal:  Arch Ophthalmol       Date:  1992-05

3.  [ERG (electroretinogram) in hereditary optic atrophies].

Authors:  K Yagasaki; Y Miyake; S Awaya; H Ichikawa
Journal:  Nippon Ganka Gakkai Zasshi       Date:  1986-01

4.  Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.

Authors:  M Nakamura; S Ito; H Terasaki; Y Miyake
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-06       Impact factor: 4.799

5.  Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

Authors:  C Delettre; G Lenaers; J M Griffoin; N Gigarel; C Lorenzo; P Belenguer; L Pelloquin; J Grosgeorge; C Turc-Carel; E Perret; C Astarie-Dequeker; L Lasquellec; B Arnaud; B Ducommun; J Kaplan; C P Hamel
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

6.  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
  6 in total
  1 in total

1.  A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA).

Authors:  Claire S Barnes; Jiong Yan; George R Wilmot
Journal:  Doc Ophthalmol       Date:  2008-11-21       Impact factor: 2.379
  1 in total

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