نتایج جستجو برای: leber hereditomy optic neurophaty

تعداد نتایج: 46273  

2005
Mark Musolino Patrick Loughlin Patrick Sparto Mark Redfern

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...

Journal: :Current Biology 2007
Barbara Webb

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.

2012
Kamil S. Sitarz Patrick F. Chinnery Patrick Yu-Wai-Man

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...

Journal: :Biochimica et Biophysica Acta (BBA) - Bioenergetics 2010

Journal: :Biochimica et Biophysica Acta (BBA) - Bioenergetics 2010

Journal: :International Medical Case Reports Journal 2021

2017
Yasmine L. Pilz Sherry J. Bass Jerome Sherman

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...

2016
David A. Parfitt Amelia Lane Conor M. Ramsden Amanda-Jayne F. Carr Peter M. Munro Katarina Jovanovic Nele Schwarz Naheed Kanuga Manickam N. Muthiah Sarah Hull Jean-Marc Gallo Lyndon da Cruz Anthony T. Moore Alison J. Hardcastle Peter J. Coffey Michael E. Cheetham

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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