Literature DB >> 26875006

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

Anna Majander1, Maria Bitner-Glindzicz2, Choi M Chan3, Holly J Duncan4, Patrick F Chinnery5, Malavika Subash3, Pearse A Keane3, Andrew R Webster3, Anthony T Moore6, Michel Michaelides3, Patrick Yu-Wai-Man7.   

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Year:  2016        PMID： 26875006      PMCID： PMC6558247          DOI： 10.1016/j.ophtha.2016.01.007

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  5 in total

1.  En face optical coherence tomography of foveal microstructure in full-thickness macular hole: a model to study perifoveal Müller cells.

Authors:  Alexandre Matet; Maria Cristina Savastano; Marco Rispoli; Ciara Bergin; Alexandre Moulin; Patricia Crisanti; Francine Behar-Cohen; Bruno Lumbroso
Journal:  Am J Ophthalmol       Date:  2015-02-26       Impact factor: 5.258

2.  Human chorioretinal layer thicknesses measured in macula-wide, high-resolution histologic sections.

Authors:  Christine A Curcio; Jeffrey D Messinger; Kenneth R Sloan; Arnab Mitra; Gerald McGwin; Richard F Spaide
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-06-06       Impact factor: 4.799

3.  Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system.

Authors:  June Kawano; Yukio Tanizawa; Koh Shinoda
Journal:  J Comp Neurol       Date:  2008-09-01       Impact factor: 3.215

4.  Expression of the diabetes risk gene wolframin (WFS1) in the human retina.

Authors:  Rainald Schmidt-Kastner; Pawel Kreczmanski; Markus Preising; Roselie Diederen; Christoph Schmitz; Danielle Reis; Janet Blanks; C Kathleen Dorey
Journal:  Exp Eye Res       Date:  2009-06-12       Impact factor: 3.467

5.  Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

Authors:  Miguel López de Heredia; Ramón Clèries; Virginia Nunes
Journal:  Genet Med       Date:  2013-02-21       Impact factor: 8.822
  5 in total
  5 in total

1.  Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Authors:  Neringa Jurkute; Anna Majander; Richard Bowman; Marcela Votruba; Stephen Abbs; James Acheson; Guy Lenaers; Patrizia Amati-Bonneau; Mariya Moosajee; Gavin Arno; Patrick Yu-Wai-Man
Journal:  Eur J Hum Genet       Date:  2018-08-24       Impact factor: 4.246

Review 2.  A neurodegenerative perspective on mitochondrial optic neuropathies.

Authors:  Patrick Yu-Wai-Man; Marcela Votruba; Florence Burté; Chiara La Morgia; Piero Barboni; Valerio Carelli
Journal:  Acta Neuropathol       Date:  2016-09-30       Impact factor: 17.088

3.  The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Authors:  Anna Majander; Catarina João; Andrew T Rider; G Bruce Henning; Marcela Votruba; Anthony T Moore; Patrick Yu-Wai-Man; Andrew Stockman
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-01-01       Impact factor: 4.799

4.  A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.

Authors:  G Cairns; F Burté; R Price; E O'Connor; M Toms; R Mishra; M Moosajee; A Pyle; J A Sayer; P Yu-Wai-Man
Journal:  Sci Rep       Date:  2021-10-14       Impact factor: 4.379

5.  The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Authors:  A Majander; A G Robson; C João; G E Holder; P F Chinnery; A T Moore; M Votruba; A Stockman; P Yu-Wai-Man
Journal:  Mitochondrion       Date:  2017-07-18       Impact factor: 4.160
  5 in total

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