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Original Article

Optic atrophy in Wolfram syndrome

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Pages 159-165 | Published online: 08 Jul 2009

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Rym Maamouri, Syrine Hizem, Ines Kammoun, Yasmina Elaribi, Imen Rejeb, Molka Sebai, Houweyda Jilani, Cécile Rouzier, Monia Cheour, Véronique Paquis-Flucklinger & Lamia Ben Jemaa. (2023) A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1. Ophthalmic Genetics 44:3, pages 304-312.
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Matteo Scaramuzzi, Priyanka Kumar, Neal Peachey, Paolo Nucci & Elias I. Traboulsi. (2019) Evidence of retinal degeneration in Wolfram syndrome. Ophthalmic Genetics 40:1, pages 34-38.
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Articles from other publishers (15)

Samuel Asanad, Jessica Wu, Marco Nassisi, Fred N. Ross-Cisneros & Alfredo A. Sadun. (2018) Optical coherence tomography-angiography in Wolfram syndrome: a mitochondrial etiology in disease pathophysiology. Canadian Journal of Ophthalmology.
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Fred N. Ross-Cisneros, Billy X. Pan, Ruwan A. Silva, Neil R. Miller, Thomas A. Albini, Lisbeth Tranebjaerg, Nanna D. Rendtorff, Marianne Lodahl, Milton N. Moraes-Filho, Milton N. Moraes, Solange R. Salomao, Adriana Berezovsky, Rubens BelfortJr.Jr., Valerio Carelli & Alfredo A. Sadun. (2013) Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss. Mitochondrion 13:6, pages 841-845.
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Yi-Fan Chen, Chia-Yu Wu, Ralph Kirby, Cheng-Heng Kao & Ting-Fen Tsai. (2010) A role for the CISD2 gene in lifespan control and human disease. Annals of the New York Academy of Sciences 1201:1, pages 58-64.
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Rainald Schmidt-Kastner, Pawel Kreczmanski, Markus Preising, Roselie Diederen, Christoph Schmitz, Danielle Reis, Janet Blanks & C. Kathleen Dorey. (2009) Expression of the diabetes risk gene wolframin (WFS1) in the human retina. Experimental Eye Research 89:4, pages 568-574.
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Yi-Fan Chen, Cheng-Heng Kao, Ya-Ting Chen, Chih-Hao Wang, Chia-Yu Wu, Ching-Yen Tsai, Fu-Chin Liu, Chu-Wen Yang, Yau-Huei Wei, Ming-Ta Hsu, Shih-Feng Tsai & Ting-Fen Tsai. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice. Genes & Development 23:10, pages 1183-1194.
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June Kawano, Yukio Tanizawa & Koh Shinoda. (2008) Wolfram syndrome 1 ( Wfs1 ) gene expression in the normal mouse visual system . Journal of Comparative Neurology 510:1, pages 1-23.
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Saul Merin. 2005. Inherited Eye Diseases. Inherited Eye Diseases 557 588 .
Kouichi Inukai, Takuya Awata, Kiyoaki Inoue, Susumu Kurihara, Youhei Nakashima, Masaki Watanabe, Takahiro Sawa, Nobuki Takata & Shigehiro Katayama. (2005) Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Diabetes Research and Clinical Practice 69:2, pages 136-141.
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Farhat Khanim, Jeremy Kirk, Farida Latif & Timothy G. Barrett. (2001) WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Human Mutation 17:5, pages 357-367.
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Timothy G Barrett, Sarah E Bundey, Alistair R Fielder & Peter A Good. (1997) Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 11:6, pages 882-888.
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T G Barrett & S E Bundey. (1997) Wolfram (DIDMOAD) syndrome.. Journal of Medical Genetics 34:10, pages 838-841.
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Neil J. Scolding, Helen F. Kellar-Wood, C. Shaw, John M. Shneerson & Nagui Antount. (1996) Wolfram syndrome: Hereditary diabetes mellitus with brainstem and optic atrophy. Annals of Neurology 39:3, pages 352-360.
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L. Van Den Bergh, T. Zeyen, J. Verhelst & Ch Mahler. (1993) Wolfram syndrome: A clinical study of two cases. Documenta Ophthalmologica 84:2, pages 119-126.
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S. Bundey, K. Poulton, H. Whitwell, E. Curtis, I. A. R. Brown & A. R. Fielder. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome. Journal of Inherited Metabolic Disease 15:3, pages 315-319.
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M. A. M. SALIH & T. TUVEMO. (2008) Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD Syndrome): A Clinical Study in Two Sudanese Families . Acta Paediatrica 80:5, pages 567-572.
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