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Literature DB >> 20639910

Genetics: Optic nerve genetics--more than meets the eye.

David A Mackey, Ian Trounce.

Abstract

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Substances：

Year: 2010 PMID： 20639910 DOI： 10.1038/nrneurol.2010.77

Source DB: PubMed Journal: Nat Rev Neurol ISSN： 1759-4758 Impact factor: 42.937

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10 in total

1. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.

Authors: A E Harding; M G Sweeney; D H Miller; C J Mumford; H Kellar-Wood; D Menard; W I McDonald; D A Compston
Journal: Brain Date: 1992-08 Impact factor: 13.501

2. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.

Authors: P KJER
Journal: Acta Ophthalmol Suppl Date: 1959

Review 3. Critical dependence of neurons on mitochondrial dynamics.

Authors: Hsiuchen Chen; David C Chan
Journal: Curr Opin Cell Biol Date: 2006-06-14 Impact factor: 8.382

4. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.

Authors: A S Jun; I A Trounce; M D Brown; J M Shoffner; D C Wallace
Journal: Mol Cell Biol Date: 1996-03 Impact factor: 4.272

5. Mutations of optineurin in amyotrophic lateral sclerosis.

Authors: Hirofumi Maruyama; Hiroyuki Morino; Hidefumi Ito; Yuishin Izumi; Hidemasa Kato; Yasuhito Watanabe; Yoshimi Kinoshita; Masaki Kamada; Hiroyuki Nodera; Hidenori Suzuki; Osamu Komure; Shinya Matsuura; Keitaro Kobatake; Nobutoshi Morimoto; Koji Abe; Naoki Suzuki; Masashi Aoki; Akihiro Kawata; Takeshi Hirai; Takeo Kato; Kazumasa Ogasawara; Asao Hirano; Toru Takumi; Hirofumi Kusaka; Koichi Hagiwara; Ryuji Kaji; Hideshi Kawakami
Journal: Nature Date: 2010-04-28 Impact factor: 49.962

6. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Authors: Amy C Cohn; Carmel Toomes; Catherine Potter; Katherine V Towns; Alex W Hewitt; Chris F Inglehearn; Jamie E Craig; David A Mackey
Journal: Am J Ophthalmol Date: 2007-02-15 Impact factor: 5.258

7. 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

8. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Authors: Marc Ferré; Dominique Bonneau; Dan Milea; Arnaud Chevrollier; Christophe Verny; Hélène Dollfus; Carmen Ayuso; Sabine Defoort; Catherine Vignal; Xavier Zanlonghi; Jean-Francois Charlin; Josseline Kaplan; Sylvie Odent; Christian P Hamel; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau
Journal: Hum Mutat Date: 2009-07 Impact factor: 4.878

9. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Authors: E K Nikoskelainen; R J Marttila; K Huoponen; V Juvonen; T Lamminen; P Sonninen; M L Savontaus
Journal: J Neurol Neurosurg Psychiatry Date: 1995-08 Impact factor: 10.154

10. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Authors: Max A Tischfield; Hagit N Baris; Chen Wu; Guenther Rudolph; Lionel Van Maldergem; Wei He; Wai-Man Chan; Caroline Andrews; Joseph L Demer; Richard L Robertson; David A Mackey; Jonathan B Ruddle; Thomas D Bird; Irene Gottlob; Christina Pieh; Elias I Traboulsi; Scott L Pomeroy; David G Hunter; Janet S Soul; Anna Newlin; Louise J Sabol; Edward J Doherty; Clara E de Uzcátegui; Nicolas de Uzcátegui; Mary Louise Z Collins; Emin C Sener; Bettina Wabbels; Heide Hellebrand; Thomas Meitinger; Teresa de Berardinis; Adriano Magli; Costantino Schiavi; Marco Pastore-Trossello; Feray Koc; Agnes M Wong; Alex V Levin; Michael T Geraghty; Maria Descartes; Maree Flaherty; Robyn V Jamieson; H U Møller; Ingo Meuthen; David F Callen; Janet Kerwin; Susan Lindsay; Alfons Meindl; Mohan L Gupta; David Pellman; Elizabeth C Engle
Journal: Cell Date: 2010-01-08 Impact factor: 41.582