نتایج جستجو برای: leber hereditomy optic neurophaty
تعداد نتایج: 46273 فیلتر نتایج به سال:
OBJECTIVES To assess, by magnetic resonance imaging, the volumes and magnetization transfer ratio (MTR) values of optic nerves (ONs) from patients with multiple sclerosis (MS) who had incomplete or no visual recovery after optic neuritis; and to compare these quantities with those derived from ONs from patients with MS who showed a marked clinical recovery after optic neuritis, ONs from healthy...
OBJECTIVE To assess whether impaired energy metabolism in skeletal muscle is a hallmark feature of patients with dominant optic atrophy due to several different mutations in the OPA1 gene. DESIGN We used phosphorus 31 magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in subjects with molecularly defined dominant optic atrophy carrying different mutations in the OPA1 g...
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-p...
Leber hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy which is caused by point mutations in the mitochondrial genome (mtDNA). Three pathogenic mutations (positions 11778/ND4, 3460/ND1 and 14484/ND6) account for the majority of LHON cases and they affect genes that encode for different subunits of mitochondrial comp...
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina...
Animal models provide a valuable tool for investigating the genetic basis and the pathophysiology of human diseases, and to evaluate therapeutic treatments. To study congenital retinal disorders, mouse mutants have become the most important model organism. Here we review some mouse models, which are related to hereditary disorders (mostly congenital) including retinitis pigmentosa, Leber's cong...
I n the 1990s, gene therapy emerged as a novel strategy for treatment of human diseases. Early attempts at gene therapy in the United States centered on treatment of severe combined immunodeficiency due to adenosine deaminase deficiency, ornithine transcarbamylase deficiency, and hemophilia. Early setbacks gave way to later successes, resulting in increased acceptance of the concept of genetic ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید