Search Results - "ataxia"
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Auditory perception in individuals with Friedreich’s Ataxia
Published 2010“…INTRODUCTION: Friedreich's ataxia (FRDA) is an inherited ataxia with a range of progressive features including axonal degeneration of sensory nerves. …”
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Growth and nutrition in children with Ataxia telangiectasia
Published 2016“…Background: Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. …”
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Longitudinal analysis of the neurological features of ataxia telangiectasia
Published 2016“…Aim: To assess the relationship between genotype and neurological progression in ataxia‐telangiectasia (A‐T). Methods: Clinical and laboratory data were extracted retrospectively from the records of patients attending the UK National Ataxia‐Telangiectasia Clinic. …”
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Advanced lung imaging and lung function testing in Ataxia-Telangiectasia
Published 2023Subjects: Get full text
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Optimisation of Delivery of the Ataxia Telangiectasia Mutated Transgene to HeLa Cells Using Glycosaminoglycan Enhanced Transduction
Published 2021Subjects: “…Ataxia telangiectasia…”
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Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients
Published 2014“…Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein. …”
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Optic ataxia and the dorsal visual steam re-visited: impairment in bimanual haptic matching performed without vision
Published 2017Subjects: “…Optic ataxia; Balint’s syndrome; Dorsal stream function; Haptic matching; Simultanagnosia…”
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Targeting ataxia telangiectasia-mutated and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized cancer therapy
Published 2018“…PTEN has been found to be mutated in different types of human cancers including breast cancer. Ataxia-telangiectasia mutated (ATM) and RAD3- related (ATR) are involved in DDR and they have roles in cell cycle regulation and apoptosis. …”
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Antioxidant-mediated protective role of Hericium erinaceus (Bull.: Fr.) Pers. against oxidative damage in fibroblasts from Friedreich’s ataxia patient
Published 2020“…Friedreich’s ataxia (FRDA) is a progressive neuromuscular disorder caused by substantial decrease of mitochondrial protein frataxin responsible for biogenesis of iron-sulphur clusters and protection from oxidative damage. …”
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Ataxia telangiectasia mutated and Rad3 related (ATR) protein kinase inhibition is synthetically lethal in XRCC1 deficient ovarian cancer cells
Published 2013“…Introduction Ataxia telangiectasia mutated and Rad3 Related (ATR) protein kinase is a key sensor of single-stranded DNA associated with stalled replication forks and repair intermediates generated during DNA repair. …”
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The neurology of gluten sensitivity
Published 2013“…AGA, other food antibodies and tissue transglutaminase antibody (TTG) were measured in patients with idiopathic ataxia (20), hereditary ataxia (7) and idiopathic peripheral neuropathy (32). …”
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Nystagmus and abducens nerve palsy as an early presentation of non-alcoholic Wernicke encephalopathy
Published 2024“…It usually presents as a clinical triad of confusion, ophthalmoplegia, and gait ataxia. Nystagmus is usually the most common and earliest ophthalmologic sign. …”
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α-chloralose poisoning in a cat
Published 2016“…Clinically, the cat showed an acute onset of ataxia, depressed mentation and continuous twitching/ seizure activity in the morning after having been outside overnight. …”
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Neuroaxonal dystrophy in a flock of pied imperial pigeons (Ducula bicolor)
Published 2017“…Five juvenile pied imperial pigeons (Ducula bicolor) presented with neurological signs including torticollis, ataxia and poor flying ability. All were humanely destroyed and submitted for post-mortem examination. …”
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Choroid plexus dysfunction: The initial event in the pathogenesis of Wernicke's encephalopathy and ethanol intoxication
Published 2008“…Methods: Contrast-enhanced, magnetic resonance imaging (MRI) was used to detect and time any impairment of the BBB or BCSFB in rats given an acute ethanol load or in rats made thiamin deficient to the point of mild ataxia and then given an acute glucose load. Results: The BCSFB at the choroid plexus (CP) was impaired within 10 minutes by either (i) a single i.p. dose of glucose in thiamin-deficiency, an effect that was attenuated by prior MK801 and preceded the published onset of exacerbation of motor incoordination and elevation of brain glutamate derivatives; or (ii) a single i.p. dose of ethanol in thiamin-sufficiency, an effect that was proportional to the blood alcohol concentration and preceded the published onset of signs of intoxication. …”
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West Nile virus infection in human and animals: potential risks in Malaysia
Published 2019“…The spectrum of symptoms in animals includes fever, weakness and paralysis of hind limbs, impaired vision, ataxia, head pressing, aimless wandering, seizures, inability to swallow, walking in circles and coma. …”
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Meningeal carcinomatosis and spinal cord infiltration caused by a locally invasive pulmonary adenocarcinoma in a cat
Published 2017“…A 12-year-old domestic shorthair cat was presented with acute non-painful hindlimb proprioceptive ataxia localising to T3–L3 spinal cord segments. MRI revealed paravertebral muscular hyperintensity on T2-weighted images at the level of T7–T8 vertebrae. …”
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Toxic effects of sapium baccatum (Ludai) extract in rats
Published 2012“…Some physiological effects observed include ataxia and hind-legs paralysis. The gross observations of the livers, growth of abnormal spots and connective tissues attachment to lobes of the livers were observed. …”
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