Results 61 to 70 of about 310,806 (291)
Leber’s hereditary optic neuropathy companied with multiple-related diseases
Frontiers in Human Neuroscience, 2022 ObjectiveTo elucidate the clinical, radiologic characteristics of Leber’s hereditary optic neuropathy (LHON) associated with the other diseases.Materials and methodsClinical data were retrospectively collected from hospitalized patients with LHON ...
Ming-ming Sun +9 more
doaj +1 more source
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]
, 2015 The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M +4 more
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Sex hormones in allergic conjunctivitis: altered levels of circulating androgens and estrogens in children and adolescents with vernal keratoconjunctivitis [PDF]
, 2015 PURPOSE: Vernal keratoconjunctivitis (VKC) is a chronic allergic disease mainly affecting boys in prepubertal age and usually recovering after puberty.
Bonini, S. +4 more
core +4 more sources
SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1
FEBS Open Bio, EarlyView.Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl +13 more
wiley +1 more source
STRUCTURE OF CONGENITAL AND HEREDITARY EYE DISEASES IN CHILDREN AND MEASURES OF ITS PREVENTION
Ukrainian Scientific Medical Youth Journal, 2016 Hereditary and congenital eye disease compose 60% to 90% of all causes of disability due to reduced visual acuity in children. The treatment is ineffective and prevention methods requires significant improvement. The purpose of the study was to determine
A. Savina, O. Vitovska
doaj
FEBS Open Bio, EarlyView.Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid +3 more
wiley +1 more source
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli +49 more
core +1 more source
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
Офтальмохирургия, 2016 We summarized the results of Russian and foreign researches elucidating embryogenesis, topography and anatomy of different orbital fat pads. It is interesting that adipose tissue from different surgical adipose spaces do not stem from the same germ ...
S. A. Borzenok +3 more
doaj +1 more source
The Cone Dysfunction Syndromes [PDF]
, 2016 The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J +4 more
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