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| Vieira,A.S.; Dogini,D.B.; Lopes-Cendes,I.. |
| Protein coding sequences represent only 2% of the human genome. Recent advances have demonstrated that a significant portion of the genome is actively transcribed as non-coding RNA molecules. These non-coding RNAs are emerging as key players in the regulation of biological processes, and act as "fine-tuners" of gene expression. Neurological disorders are caused by a wide range of genetic mutations, epigenetic and environmental factors, and the exact pathophysiology of many of these conditions is still unknown. It is currently recognized that dysregulations in the expression of non-coding RNAs are present in many neurological disorders and may be relevant in the mechanisms leading to disease. In addition, circulating non-coding RNAs are emerging as... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MicroRNA; Gene regulation; Molecular biomarkers. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000800301 |
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| Ruocco,H.H.; Lopes-Cendes,I.; Li,L.M.; Santos-Silva,M.; Cendes,F.. |
| Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Neurodegeneration; Dynamic mutation; Genotype-phenotype correlation; Basal ganglia; Magnetic resonance imaging; Huntington's disease. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000800016 |
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| Casseb,R.F.; D'Abreu,A.; Ruocco,H.H.; Lopes-Cendes,I.; Cendes,F.; Castellano,G.. |
| Huntington's disease (HD) is a neurologic disorder that is not completely understood; its fundamental physiological mechanisms and chemical effects remain somewhat unclear. Among these uncertainties, we can highlight information about the concentrations of brain metabolites, which have been widely discussed. Concentration differences in affected, compared to healthy, individuals could lead to the development of useful tools for evaluating the progression of disease, or to the advance of investigations of different/alternative treatments. The aim of this study was to compare the thalamic concentration of metabolites in HD patients and healthy individuals using magnetic resonance spectroscopy. We used a 2.0-Tesla magnetic field, repetition time of 1500 ms,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Magnetic resonance spectroscopy; Huntington's disease; Quantification; Thalamus; LCModel. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000800722 |
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