Search Results - "Antão Paiva, Carmen Lucia"
-
1
Neuromyelitis optica is an HLA associated disease different from Multiple Sclerosis: a systematic review with meta-analysis
Published in Scientific reports (08-01-2021)“…Neuromyelitis Optica and Multiple Sclerosis are idiopathic inflammatory demyelinating diseases of the central nervous system that currently are considered…”
Get full text
Journal Article -
2
A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes
Published in Scientific reports (20-06-2019)“…The variables such as race, skin colour and ethnicity have become intensely discussed in medicine research, as a response to the rising debate over the…”
Get full text
Journal Article -
3
Investigation of the Influence of TBP CAG/CAA Repeats in Conjunction with HTT CAG Repeats on Huntington’s Disease Age at Onset in a Brazilian Sample
Published in Journal of molecular neuroscience (01-05-2022)“…Huntington’s disease (HD) is a genetic neurodegenerative progressive and fatal disease characterized by motor disorder, cognitive impairment, and behavioral…”
Get full text
Journal Article -
4
Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype – Phenotype Analysis
Published in Cerebellum (London, England) (25-09-2024)“…Spinocerebellar ataxias (SCAs) are a diverse group of hereditary neurodegenerative disorders characterized by progressive degeneration of the cerebellum and…”
Get full text
Journal Article -
5
Analysis of national coverage of neonatal cystic fibrosis screening in Brazil from 2008 to 2017
Published in The journal of maternal-fetal & neonatal medicine (12-12-2022)“…The Brazilian neonatal screening program established in 2001 included the investigation of cystic fibrosis (CF) in the phase III of the program. For this…”
Get full text
Journal Article -
6
Familial multiple sclerosis in a Brazilian sample: Is HLA-DR15 involved in susceptibility to the disease?
Published in Journal of neuroimmunology (15-05-2019)“…The HLA-DR15 extended haplotype HLA-DRB1*15:01-DQA1*01:02-DQB1*06:02 comprises the strongest genetic risk factor for multiple sclerosis (MS). The aim of this…”
Get full text
Journal Article -
7
Author Correction: A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes
Published in Scientific reports (01-05-2020)“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
Get full text
Journal Article -
8
Distribution of the HTT Gene A1 and A2 Haplotypes Worldwide: A Systematic Review
Published in Clinical medicine & research (01-12-2020)“…Huntington's disease (HD)(MIM:143100) is an severe autosomal dominant neurodegenerative disease caused by the dynamic expansion of CAG trinucleotides (> 35) in…”
Get full text
Journal Article -
9
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease
Published in American journal of human genetics (05-12-2019)“…Huntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading…”
Get full text
Journal Article -
10
Clinical and genetic investigation of a Brazilian family with Huntington's disease
Published in Functional neurology (01-07-2016)“…The aim of this study was to investigate a Brazilian family carrying full penetrance alleles for Huntington's disease (HD) in order to correlate each member's…”
Get full text
Journal Article -
11
A Study of a Geographical Cluster of Huntington's Disease in a Brazilian Town of Zona da Mata, Minas Gerais State
Published in European neurology (01-01-2015)“…Our aim was to investigate a geographical cluster of Huntington's disease (HD) in Ervalia, a Brazilian town of Minas Gerais state (MG). Therefore, we…”
Get more information
Journal Article -
12
Actin Immobilization on Chitin for Purifying Myosin II: A Laboratory Exercise That Integrates Concepts of Molecular Cell Biology and Protein Chemistry
Published in Biochemistry and molecular biology education (2008)“…This article presents our experience on teaching biochemical sciences through an innovative approach that integrates concepts of molecular cell biology and…”
Get full text
Journal Article -
13
Actin immobilization on chitin for purifying myosin II
Published in Biochemistry and molecular biology education (01-01-2008)“…This article presents our experience on teaching biochemical sciences through an innovative approach that integrates concepts of molecular cell biology and…”
Get full text
Journal Article