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Author | dc.contributor.author | Walker, Ruth H. | |
Author | dc.contributor.author | Gatto, Emilia M. | |
Author | dc.contributor.author | Bustamante, M. Leonor | |
Author | dc.contributor.author | Bernal-Pacheco, Oscar | |
Author | dc.contributor.author | Cardoso, Francisco | |
Author | dc.contributor.author | Castilhos, Raphael M. | |
Author | dc.contributor.author | Chana-Cuevas, Pedro | |
Author | dc.contributor.author | Cornejo-Olivas, Mario | |
Author | dc.contributor.author | Estrada-Bellmann, Ingrid | |
Author | dc.contributor.author | Jardim, Laura B. | |
Author | dc.contributor.author | López-Castellanos, Ricardo | |
Author | dc.contributor.author | López-Contreras, Ricardo | |
Admission date | dc.date.accessioned | 2019-03-18T12:02:16Z | |
Available date | dc.date.available | 2019-03-18T12:02:16Z | |
Publication date | dc.date.issued | 2018 | |
Cita de ítem | dc.identifier.citation | Parkinsonism and Related Disorders, Volumen 53, | |
Identifier | dc.identifier.issn | 18735126 | |
Identifier | dc.identifier.issn | 13538020 | |
Identifier | dc.identifier.other | 10.1016/j.parkreldis.2018.05.021 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/167470 | |
Abstract | dc.description.abstract | © 2018Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for Huntington's disease (HD) becomes more available in previously resource-limited regions, it is becoming apparent that there are patients in these areas with other rare genetic conditions which cause an HD-like phenotype. Documentation of the presence of these conditions is important in order to provide appropriate diagnostic and clinical care for these populations. Information for this article was gathered in two ways; the literature was surveyed for publications reporting a variety of genetic choreic disorders, and movement disorders specialists from countries in Latin America and the Caribbean were contacted regarding their experiences with chorea of genetic etiology. Here we discuss the availability of molecular diagnostics for HD and for other choreic disorders, along with a summary of the published reports of affected subjects, and authors’ personal experiences from the regions. W | |
Lenguage | dc.language.iso | en | |
Publisher | dc.publisher | Elsevier Ltd | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | Parkinsonism and Related Disorders | |
Keywords | dc.subject | Chorea-acanthocytosis | |
Keywords | dc.subject | Genetics | |
Keywords | dc.subject | HDL2 | |
Keywords | dc.subject | Huntington disease | |
Keywords | dc.subject | Spinocerebellar ataxia | |
Título | dc.title | Huntington's disease-like disorders in Latin America and the Caribbean | |
Document type | dc.type | Artículo de revista | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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