Optic atrophy
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment.
... clone eye tissue was also found in the homogenates of antioxidant-treated samples (data not shown). In order to further demonstrate that the glossy eye phenotype of dOPA1 mutant large clones arises as a result of ...
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Síndrome de Wolfram: relato de caso.
... insipidus, optic atrophy, deafness, peripheral polyneuropathy, autonomic neuropathy, neurogenic bladder, urinary tract dilation with recurrent infec- tions, and ...
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Rev. bras.oftalmol. vol.72 número5
... The optic neuropathy of Kjer, or dominant optic atrophy, is the most common among optic ...optical atrophy of dominant autosomal character that is caused by an alteration in the gene on ...
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Arq. NeuroPsiquiatr. vol.61 número1
... ABSTRACT - Hypertrophic pachymeningits is an unusual cause of neurological symptoms and is often secondary to infections, carcinomatosis or inflammatory diseases. It may also be idiopathic. We report a case of ...
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Arq. Bras. Oftalmol. vol.74 número3
... (LHON) and dominant optic atrophy (DOA). LHON is a disease that primarily affects men in the second and third decade of life, trans- mitted through a maternally inherited mitochondrial DNA mu- tation. This ...
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Arq. NeuroPsiquiatr. vol.62 número2B
... One week after symptoms have begun he was brought to our attention. No abnormalities were found on general examination. The patient was fully oriented. He had no problems w ith fluency, com- prehension, and ...
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Caracterização clínica e estudo do gene WFS1 na síndrome de Wolfram
... al., in a national UK cohort, found no clear correlations between any of the observed mutations and disease severity (15). However, Cano et al., studying French patients and combining his results with those of five ...
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Síndrome de Wolfram: da definição às bases moleculares.
... uma condição neurodegenerativa envolvendo o sistema nervoso central, nervos periféricos e tecidos neuroendócrinos (1). É uma doença rara, progressiva e de herança autossômica recessiva, que foi primeira- mente descrita ...
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X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
... 12. Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, ...
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Spinal muscular atrophy 5Q – Treatment with nusinersen
... The spinal muscular atrophy (SMA) is a neurode- generative condition with autosomal recessive genetic inheritance. Nusinersen is an antisense oligonucle- otide drug that modifies the SMN2 pre-mRNA pro- cessing to ...
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Optic and peripheral neuropathy due to ethambutol
... We present a case of a 77 year-old woman, diagnosed with an atypical mycobacterial pulmonary infection, started on treatment with ethambutol (EMB), rifamycine and ciprofloxacin. Eight months later she presented with ...
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Arq. NeuroPsiquiatr. vol.65 número4B
... Brain atrophy could be, in part, responsible for the devastating neurological sequelae presented by the patient reported in this case, once delayed neuroana- tomical changes were more predominant in the bi- ...
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OPTIC AND ELECTRIC PROPERTIES OF CuGa0.5In0.5Se2 INGOT
... characterized. Optic characterization utilized XRD (X-ray Diffraction) and XRF (X-ray Fluorescent), whereas electric characterization utilized the four-point and two-point ...
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Int. braz j urol. vol.33 número6
... between atrophy and /or inflammatory atrophy and prostate cancer is theoretically attractive but controversial ...prostatic atrophy to serum PSA elevation added a novel interest to this intriguing ...
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Arq. NeuroPsiquiatr. vol.68 número3
... Among MSA-p cases, four (50%) had cruciform hy- perintensity, ive (62.5%) had slitlike hyperintensity of the posterolateral margin of the putamen, six (75%) had atro- phy of the putamen, seven (87.5%) had putaminal ...
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Desproporção congênita de fibras: atrofia de fibras tipo I- relato de 11 casos.
... Type I fibres atrophy: report of 11 cases.[r] ...
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Arq. Bras. Oftalmol. vol.80 número5
... and optic nerve head parameters, controlling for age and optic DA, showed that corneal refractive power (both anterior and posterior) correlated well with most ONH parameters except CV and CD (Table ...
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Arq. Bras. Oftalmol. vol.71 número1
... In our first patient, retinal vascular complications include optic disc atrophy after AION in his right eye and acute AION in left eye within six months. After this second eye compli- cation, he was ...
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Arq. NeuroPsiquiatr. vol.66 número1
... Abstract – Devic’s neuromyelitis optica (NMO) is an idiopathic inflammatory demyelinating and necrotizing disease characterized by predominant involvement of the optic nerves and spinal cord. In Asian countries ...
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Arq. Bras. Oftalmol. vol.80 número4
... Optical coherence tomography angiography (OCTA) is a novel technology that generates volumetric angiography images with applicability for the diagnosis and follow-up of a wide range of retinal diseases. However, OCTA ...
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