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Clinical Genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 134 - 140
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 08/2016, Volume 459, p. 57
Niemann-Pick type C (NPC) is a treatable genetic disorder, mainly characterized by neurological dysfunction and liver damage. Its diagnosis is based on an... 
Enzymes | Biological products | Analysis | Steroids | Nervous system diseases | Genes
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 373 - 377
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... 
HDL1 | neuroferritinopathy | chorea‐acanthocytosis | DRPLA | HDL2 | spinocerebellar ataxia type 2 | HD‐like | Huntington disease | SCA2 | Brazil | benign hereditary chorea | Huntington disease‐like 2 | Huntington disease-like 2 | Spinocerebellar ataxia type 2 | Benign hereditary chorea | Chorea-acanthocytosis | Neuroferritinopathy | HD-like | DIAGNOSIS | PHENOTYPE | GENE | CHOREA | EXPANSION | GENETICS & HEREDITY | HUNTINGTON-DISEASE-LIKE-2 | chorea-acanthocytosis | TRINUCLEOTIDE REPEAT | Heredodegenerative Disorders, Nervous System - genetics | Heredodegenerative Disorders, Nervous System - pathology | Humans | Huntington Disease - pathology | Middle Aged | Dementia - diagnosis | Male | Dementia - epidemiology | Dementia - genetics | Spinocerebellar Ataxias - diagnosis | Adult | Female | Huntington Disease - diagnosis | Chorea - diagnosis | Spinocerebellar Ataxias - genetics | Dementia - pathology | Cognition Disorders - pathology | Spinocerebellar Ataxias - epidemiology | Heredodegenerative Disorders, Nervous System - diagnosis | Cognition Disorders - genetics | Spinocerebellar Ataxias - pathology | Chorea - pathology | Cognition Disorders - diagnosis | Huntington Disease - epidemiology | Phenotype | Chorea - epidemiology | Heredodegenerative Disorders, Nervous System - epidemiology | Huntington Disease - genetics | Trinucleotide Repeat Expansion - genetics | Chorea - genetics | Cognition Disorders - epidemiology | Huntington's chorea | Epidemiology | Neurological disorders | Genetic disorders
Journal Article
Journal Article
Brazilian Journal of Medical and Biological Research, ISSN 0100-879X, 06/2010, Volume 43, Issue 6, pp. 537 - 542
Journal Article
Human Reproduction, ISSN 0268-1161, 9/2012, Volume 27, Issue 9, pp. 2866 - 2871
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... 
twinning | Cândido Godói | fertility | p53 | Twins - genetics | Prevalence | Humans | Risk Factors | Blastocyst | Embryo Implantation | Case-Control Studies | Tumor Suppressor Protein p53 - genetics | Fertility - physiology | Polymorphism, Genetic | Pregnancy | Fertility - genetics | Genes, p53 | Infertility | Alleles | Brazil | Adult | Female | Odds Ratio
Journal Article
European Journal of Neurology, ISSN 1351-5101, 07/2017, Volume 24, Issue 7, pp. 892 - e36
Journal Article