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Literature DB >> 23916084

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.

Patrick Yu-Wai-Man¹, Patrick F Chinnery.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2013 PMID： 23916084 PMCID： PMC6542663 DOI： 10.1016/j.ophtha.2013.04.022

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

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5 in total

Review 1. 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

2. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Authors: D L Thiselton; C Alexander; A Morris; S Brooks; T Rosenberg; H Eiberg; B Kjer; P Kjer; S S Bhattacharya; M Votruba
Journal: Hum Genet Date: 2001-10-03 Impact factor: 4.132

Review 3. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors: Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal: Prog Retin Eye Res Date: 2010-11-26 Impact factor: 21.198

4. Multi-system neurological disease is common in patients with OPA1 mutations.

Authors: P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal: Brain Date: 2010-02-15 Impact factor: 13.501

5. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

Authors: Patrick Yu-Wai-Man; Philip G Griffiths; Ailbhe Burke; Peter W Sellar; Michael P Clarke; Lawrence Gnanaraj; Desiree Ah-Kine; Gavin Hudson; Birgit Czermin; Robert W Taylor; Rita Horvath; Patrick F Chinnery
Journal: Ophthalmology Date: 2010-04-24 Impact factor: 12.079

5 in total

26 in total

1. Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Authors: Xiao-Huan Zou; Xin-Xin Guo; Hui-Zhen Su; Chong Wang; En-Lin Dong; Ning Wang; Wan-Jin Chen; Qi-Jie Zhang
Journal: J Mol Neurosci Date: 2019-05-10 Impact factor: 3.444

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.

Review 1. Dominant optic atrophy.

2. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Review 3. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

4. Multi-system neurological disease is common in patients with OPA1 mutations.

5. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

1. Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Review 2. Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

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

Review 4. Disturbed mitochondrial dynamics and neurodegenerative disorders.

Review 5. Mitochondrial dynamism and heart disease: changing shape and shaping change.

Review 6. Treatment strategies for inherited optic neuropathies: past, present and future.

Review 7. Prevalence of neurogenetic disorders in the North of England.

8. Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Review 9. Bone Marrow-Derived Cells as a Therapeutic Approach to Optic Nerve Diseases.

10. A multiple sclerosis-like disorder in patients with OPA1 mutations.