Literature DB >> 13660776

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

P KJER.   

Abstract

Entities:  

Keywords:  NERVES, OPTIC/diseases

Mesh：

Year:  1959        PMID： 13660776

Source DB:  PubMed          Journal:  Acta Ophthalmol Suppl        ISSN： 0065-1451


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  52 in total

1.  OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Authors:  Tetsuya Hamahata; Takuro Fujimaki; Keiko Fujiki; Ai Miyazaki; Atsushi Mizota; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2011-11-01       Impact factor: 2.447

2.  Genetics: Optic nerve genetics--more than meets the eye.

Authors:  David A Mackey; Ian Trounce
Journal:  Nat Rev Neurol       Date:  2010-07       Impact factor: 42.937

Review 3.  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

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

Authors:  Makoto Nakamura; Yozo Miyake
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2005-07-15       Impact factor: 3.117

Review 5.  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

6.  [Hereditary optic atrophies].

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

Review 7.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Authors:  M Votruba; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

8.  Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Authors:  M Votruba; D Thiselton; S S Bhattacharya
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

9.  Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.

Authors:  C Lamperti; M Zeviani
Journal:  Acta Myol       Date:  2009-07

10.  Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Authors:  Barend F T Hogewind; Ronald J E Pennings; Frans A Hol; Henricus P M Kunst; Elisabeth H Hoefsloot; Johannes R M Cruysberg; Cor W R J Cremers
Journal:  Mol Vis       Date:  2010-01-12       Impact factor: 2.367
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