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Literature DB >> 26530508

Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy.

M Eckenweiler¹, C B Catarino², C Gallenmueller³, T Klopstock⁴, W A Lagrèze⁵, R Korinthenberg⁶, J Kirschner⁷.

Abstract

Entities: Disease Mutation

Mesh：

Substances：

Year: 2015 PMID： 26530508 DOI： 10.1007/s00415-015-7955-5

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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10 in total

1. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.

Authors: Abelardo Solano; Manuel Roig; Cristofol Vives-Bauza; Jose Hernandez-Peña; Elena Garcia-Arumi; Ana Playan; Manuel J Lopez-Perez; Antonio L Andreu; Julio Montoya
Journal: Ann Neurol Date: 2003-10 Impact factor: 10.422

2. The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Authors: P Yu-Wai-Man; P G Griffiths; D T Brown; N Howell; D M Turnbull; P F Chinnery
Journal: Am J Hum Genet Date: 2002-01-07 Impact factor: 11.025

3. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

Authors: D A Mackey; R J Oostra; T Rosenberg; E Nikoskelainen; J Bronte-Stewart; J Poulton; A E Harding; G Govan; P A Bolhuis; S Norby
Journal: Am J Hum Genet Date: 1996-08 Impact factor: 11.025

4. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe.

Authors: Barbara Mascialino; Mika Leinonen; Thomas Meier
Journal: Eur J Ophthalmol Date: 2012 May-Jun Impact factor: 2.597

5. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Authors: Esther Leshinsky-Silver; Ruslan Shuvalov; Shani Inbar; Sarit Cohen; Dorit Lev; Tally Lerman-Sagie
Journal: J Child Neurol Date: 2010-12-31 Impact factor: 1.987

6. A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.

Authors: G Singh; M T Lott; D C Wallace
Journal: N Engl J Med Date: 1989-05-18 Impact factor: 91.245

7. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.

Authors: B Dermaut; S Seneca; L Dom; K Smets; L Ceulemans; J Smet; B De Paepe; S Tousseyn; S Weckhuysen; M Gewillig; P Pals; P Parizel; J L De Bleecker; P Boon; L De Meirleir; P De Jonghe; R Van Coster; W Van Paesschen; P Santens
Journal: J Neurol Neurosurg Psychiatry Date: 2010-01 Impact factor: 10.154

8. Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Authors: Mark Tarnopolsky; Brandon Meaney; Brian Robinson; Katherine Sheldon; Richard G Boles
Journal: Am J Med Genet A Date: 2013-06-27 Impact factor: 2.802

9. Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

Authors: Achilles Spyropoulos; Mark Manford; Rita Horvath; Charlotte L Alston; Patrick Yu-Wai-Man; Langping He; Robert W Taylor; Patrick F Chinnery
Journal: JAMA Neurol Date: 2013-12 Impact factor: 18.302

10. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.

Authors: Thomas Klopstock; Patrick Yu-Wai-Man; Konstantinos Dimitriadis; Jacinthe Rouleau; Suzette Heck; Maura Bailie; Alaa Atawan; Sandip Chattopadhyay; Marion Schubert; Aylin Garip; Marcus Kernt; Diana Petraki; Christian Rummey; Mika Leinonen; Günther Metz; Philip G Griffiths; Thomas Meier; Patrick F Chinnery
Journal: Brain Date: 2011-07-25 Impact factor: 13.501