نتایج جستجو برای: leber hereditomy optic neurophaty
تعداد نتایج: 46273 فیلتر نتایج به سال:
INTRODUCTION Previous work in our laboratory showed that postural sway power in a group of six healthy adults was significantly larger in response to a periodic sum-of-sinusoids (SOS), compared to a spectrally similar non-periodic SOS [1], but only at the highest component frequency of the stimulus (0.5Hz). The objective of the current study was to determine whether this behavior could be repro...
Insects can smoothly control their height while flying by adjusting lift to maintain a set-point in the ventral optic flow. The efficacy of this simple flight-control mechanism has been demonstrated using a robot helicopter.
Mitochondrial cytopathies are a heterogeneous group of human disorders triggered by disturbed mitochondrial function. This can be due to primary mitochondrial DNA mutations or nuclear defects affecting key components of the mitochondrial machinery. Optic neuropathy is a frequent disease manifestation and the degree of visual failure can be profound, with a severe impact on the patient's quality...
In recent years, the term mitochondrial optic neuropathy (MON) has increasingly been used within the literature to describe a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells (RGCs). Interestingly, MONs include genetic aetiologies, such as Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), as well as acquired aetiologies result...
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but the basis of this sensitivity is unclear. Here, we generated differentiated photoreceptors in three-dimensional optic cups and retinal pigment ...
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