Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
about
A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case reportMitochondrial cytochrome c oxidase deficiencyGenetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaInvestigation of the Mitochondrial ATPase 6/8 and tRNA(Lys) Genes Mutations in Autism.Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAnalysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variantsFollowing mitochondrial footprints through a long mucosal path to lung cancer.ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.Low-level light therapy of the eye and brainMitochondrial DNA analysis in primary congenital glaucomaIdentification of novel mitochondrial mutations in Leber's hereditary optic neuropathyKeratoconus is associated with increased copy number of mitochondrial DNA.Mitochondrial ATP synthase: architecture, function and pathology.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human diseaseLeber's Hereditary Optic Neuropathy: The Mitochondrial Connection RevisitedMitochondrial A12308G alteration in tRNA(Leu(CUN)) in colorectal cancer samples.Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy.A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interestAnalysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma.Mitochondrial DNA nucleotide changes in primary congenital glaucoma patientsOptimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.Mitochondrial Cytochrome c Oxidase subunit 1 Sequence Variation in Prostate CancerHigh-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma.Glaucoma and optic nerve repair.Glia-Neuron Interactions in the Retina Can Be Studied in Cocultures of Müller Cells and Retinal Ganglion CellsIdentification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression.Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Relevance of Molecular Changes in the ND4 Gene in German Shepherd Dog Tumours.ATP Synthase Diseases of Mitochondrial Genetic Origin.
P2860
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P2860
Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
@en
type
label
Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
@en
prefLabel
Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
@en
P356
P1476
Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
@en
P2093
Khaled K Abu-Amero
Thomas M Bosley
P304
P356
10.1167/IOVS.06-0295
P407
P577
2006-10-01T00:00:00Z