A neurodegenerative perspective on mitochondrial optic neuropathies-Reference-Cited by-同舟云学术

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A neurodegenerative perspective on mitochondrial optic neuropathies

Published:2016-09-30 Issue:6 Volume:132 Page:789-806
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Yu-Wai-Man Patrick,Votruba Marcela,Burté Florence,La Morgia Chiara,Barboni Piero,Carelli Valerio

Funder

Medical Research Council

National Institute for Health Research

Wellcome Trust

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-016-1625-2.pdf

Reference150 articles.

1. Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV et al (2015) Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet 47:926–932. doi: 10.1038/ng.3354

2. Adams JH, Blackwood W, Wilson J (1966) Further clinical and pathological observations on Leber’s optic atrophy. Brain 89:15–26

3. Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ et al (2007) A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain 130:1029–1042. doi: 10.1093/brain/awm005

4. Alavi MV, Fuhrmann N, Nguyen HP, Yu-Wai-Man P, Heiduschka P, Chinnery PF, Wissinger B (2009) Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy. Exp Neurol 220:404–409. doi: 10.1016/j.expneurol.2009.09.026

5. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G et al (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211–215. doi: 10.1038/79944

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