Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management-Reference-Cited by-同舟云学术

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

Published:2013-01-25 Issue:1 Volume:20 Page:13-25
ISSN:0928-6586
Container-title:Ophthalmic Epidemiology
language:en
Short-container-title:Ophthalmic Epidemiology

Author:

Bocquet Beatrice,Lacroux Annie,Surget Marie-Odile,Baudoin Corinne,Marquette Virginie,Manes Gael,Hebrard Maxime,Sénéchal Audrey,Delettre Cecile,Roux Anne-Francoise,Claustres Mireille,Dhaenens Claire-Marie,Rozet Jean-Michel,Perrault Isabelle,Bonnefont Jean-Paul,Kaplan Josseline,Dollfus Helene,Amati-Bonneau Patrizia,Bonneau Dominique,Reynier Pascal,Audo Isabelle,Zeitz Christina,Sahel José Alain,Paquis-Flucklinger Veronique,Calvas Patrick,Arveiler Benoit,Kohl Suzanne,Wissinger Bernd,Blanchet Catherine,Meunier Isabelle,Hamel Christian P.

Publisher

Informa UK Limited

Subject

Ophthalmology,Epidemiology

Link

http://www.tandfonline.com/doi/pdf/10.3109/09286586.2012.737890

Reference46 articles.

1. Hope and major strides for genetic diseases of the eye

2. Retinitis pigmentosa

3. Update on Usher syndrome

4. Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

5. Synaptic physiology of direction selectivity in the retina

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