دانلود مقالات ISI درباره Lhon, Leber's Hereditary Optic Neuropathy + ترجمه فارسی

Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy

Keywords: AAV, adeno-associated virus; BCVA, best corrected visual acuity; CF, counting fingers; ERG, electroretinogram; HM, hand movement; IOP, intraocular pressure; LHON, Leber's hereditary optic neuropathy; MD, mean defect; MtDNA, mitochondrial DNA; ND4, NADH–ub

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome

Keywords: Leigh syndrome; Mitochondria; NDUFV2; Complex I; Exome sequencingbp, base pair; In/Del, insertion/deletion; LHON, Leber's Hereditary Optic Neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MERFF, myocloni

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population

Keywords: ATP, adenosine-5′-triphosphate; CI, confidence interval; LHON, Leber's hereditary optic neuropathy; LS, Leigh syndrome; mtDNA, mitochondrial DNA; NADH, nicotinamide adenine dinucleotide (reduced form); ND3, NADH dehydrogenase subunit 3; nDNA, nuclear DNA;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Activation of PKCδ and ERK1/2 in the sensitivity to UV-induced apoptosis of human cells harboring 4977 bp deletion of mitochondrial DNA

Keywords: 8-OHdG, 8-hydroxy 2′-deoxyguanosine; AD, Alzheimer's disease; CPEO, chronic progressive external ophthalmoplegia; H2O2,, hydrogen peroxide; LHON, Leber's hereditary optic neuropathy; MAPK, mitogen-activated protein kinase; MELAS, mitochondrial myopathy, e

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2009 سفارش ترجمه

MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines

Keywords: Cybrids, cytoplasmic hybrids; DHE, dihydroethidium; DHR, dihydrorhodamine 123; EAATs, excitatory amino acid transporters; Km, glutamate uptake affinity; LHON, Leber's hereditary optic neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acido

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees

Keywords: mtDNA, mitochondrial DNA; dB, decibel; LHON, Leber's hereditary optic neuropathy; PCR, Polymerase Chain Reaction.Hearing loss; 12S rRNA; Mitochondrial DNA; Penetrance; Mutation; Chinese; Aminoglycoside ototoxicity

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2007 سفارش ترجمه

Differences of sperm motility in mitochondrial DNA haplogroup U sublineages

Keywords: CO, cytochrome oxidase; cytb, cytochrome b; ETC, electron transport chain; HVSI, hypervariable segment I; ISP, Rieske iron-sulfur protein; LHON, Leber's hereditary optic neuropathy; mtDNA, mitochondrial DNA; mtPTP, mitochondrial permeability transition po

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2006 سفارش ترجمه

The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family

Keywords: DIG, digoxigenin; mtDNA, mitochondrial DNA; LHON, Leber's hereditary optic neuropathy; PCR, Polymerase Chain ReactionVision loss; Mitochondrial DNA mutation; tRNA metabolism; Penetrance; Expressivity; Haplotype

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه