Search Results - "Saraiva, L. M."
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Understanding runoff processes in a semi-arid environment through isotope and hydrochemical hydrograph separations
Published in Hydrology and earth system sciences (20-10-2015)“…The understanding of runoff generation mechanisms is crucial for the sustainable management of river basins such as the allocation of water resources or the…”
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Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin
Published in European journal of neurology (01-01-2019)“…Background and purpose In spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD), the length of CAG repeat expansions in ATXN3 shows an inverse…”
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Drivers of spatial and temporal variability of streamflow in the Incomati River basin
Published in Hydrology and earth system sciences (02-02-2015)“…The Incomati is a semi-arid trans-boundary river basin in southern Africa, with a high variability of streamflow and competing water demands from irrigated…”
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Mitochondrial DNA haplogroups and age at onset of Machado–Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations
Published in European journal of neurology (01-03-2019)“…Background and purpose Mitochondrial dysfunction has been implicated in the pathogenesis of several neurodegenerative disorders, including Machado–Joseph…”
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Improved Process Representation in the Simulation of the Hydrology of a Meso-Scale Semi-Arid Catchment
Published in Water (Basel) (31-10-2018)“…The variability of rainfall and climate, combined with land use and land cover changes, and variation in geology and soils makes it a difficult task to…”
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Survival estimates for patients with Machado-Joseph disease (SCA3)
Published in Clinical genetics (01-12-2007)“…Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood,…”
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Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?
Published in Clinical genetics (01-01-2011)Get full text
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Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
Published in European journal of neurology (01-07-2017)“…Background and purpose Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim…”
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Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions
Published in Clinical genetics (01-08-2016)“…Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado–Joseph disease…”
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Genetic aspects of Huntington's disease in Latin America. A systematic review
Published in Clinical genetics (01-03-2016)“…We aimed to present a systematic review on Huntington's disease (HD) in Latin America (LA). PubMed and LILACS were searched up to March 2015, reporting…”
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High twinning rate in Cândido Godói: a new role for p53 in human fertility
Published in Human reproduction (Oxford) (01-09-2012)“…BACKGROUND Cândido Godói (CG) is a small town in South Brazil, which has the highest prevalence of twin births in Brazil. Recently, a number of studies have…”
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Oxygen detoxification in the strict anaerobic archaeon Archaeoglobus fulgidus: superoxide scavenging by Neelaredoxin
Published in Molecular microbiology (01-10-2000)“…Archaeoglobus fulgidus is a hyperthermophilic sulphate‐reducing archaeon. It has an optimum growth temperature of 83°C and is described as a strict anaerobe…”
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Huntington disease and Huntington disease-like in a case series from Brazil
Published in Clinical genetics (01-10-2014)“…The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD‐like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2…”
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Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings
Published in Clinical genetics (01-08-2006)Get full text
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Determination of Ambroxol in an Automated Multi-Pumping Pulsed Flow System
Published in Analytical Sciences (2005)“…A new flow methodology exploiting the multi-pumping approach was developed for the spectrophotometric determination of ambroxol hydrochloride in pharmaceutical…”
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Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population
Published in Annals of human genetics (01-01-2008)“…Summary Background: Machado‐Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation…”
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NADH Oxidase Activity of Mitochondrial Apoptosis-inducing Factor
Published in The Journal of biological chemistry (11-05-2001)“…Apoptosis-inducing factor (AIF) is a mitochondrial flavoprotein, which translocates to the nucleus during apoptosis and causes chromatin condensation and large…”
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A novel type of nitric-oxide reductase. Escherichia coli flavorubredoxin
Published in The Journal of biological chemistry (12-07-2002)“…Escherichia coli flavorubredoxin is a member of the family of the A-type flavoproteins, which are built by two core domains: a metallo-beta-lactamase-like…”
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Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis
Published in Clinica chimica acta (01-08-2016)“…Niemann–Pick type C (NPC) is a treatable genetic disorder, mainly characterized by neurological dysfunction and liver damage. Its diagnosis is based on an…”
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Comparative Fe and Zn K-edge X-ray absorption spectroscopic study of the ferroxidase centres of human H-chain ferritin and bacterioferritin from Desulfovibrio desulfuricans
Published in Journal of biological inorganic chemistry (2009)“…Iron uptake by the ubiquitous iron-storage protein ferritin involves the oxidation of two Fe(II) ions located at the highly conserved dinuclear “ferroxidase…”
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