The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives

18 páginas

Autores:: García, Julio César
Bustos, Rosa Helena

Tipo de recurso:

Fecha de publicación:: 2018

Institución:: Universidad de la Sabana

Repositorio:: Repositorio Universidad de la Sabana

Idioma:: spa

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spelling	García, Julio CésarBustos, Rosa Helena7/8/2021 10:022021-07-08T15:02:34Z2018-12-13García, J.C.y Bustos, R.H. (2018). The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives. Brain Sciences, 8(12), 1-18.2076-3425https://www.mdpi.com/2076-3425/8/12/222http://hdl.handle.net/10818/4778710.3390/brainsci812022218 páginasGenetics has led to a new focus regarding approaches to the most prevalent diseases today. Ascertaining the molecular secrets of neurodegenerative diseases will lead to developing drugs that will change natural history, thereby affecting the quality of life and mortality of patients. The sequencing of candidate genes in patients suffering neurodegenerative pathologies is faster, more accurate, and has a lower cost, thereby enabling algorithms to be proposed regarding the risk of neurodegeneration onset in healthy persons including the year of onset and neurodegeneration severity. Next generation sequencing has resulted in an explosion of articles regarding the diagnosis of neurodegenerative diseases involving exome sequencing or sequencing a whole gene for correlating phenotypical expression with genetic mutations in proteins having key functions. Many of them occur in neuronal glia, which can trigger a proinflammatory effect leading to defective proteins causing sporadic or familial mutations. This article reviews the genetic diagnosis techniques and the importance of bioinformatics in interpreting results from neurodegenerative diseases. Risk scores must be established in the near future regarding diseases with a high incidence in healthy people for defining prevention strategies or an early start for giving drugs in the absence of symptoms. View Full-Textapplication/pdfspaBrain SciencesBrain Sciences, 8(12)Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Universidad de La SabanaIntellectum Repositorio Universidad de La SabanaGenetic biomarkerParkinson’s diseaseAlzheimer’s diseaseNext generation sequencingDiagnosisNeurodegenerative diseaseAmyotrophic lateral sclerosisThe Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic PerspectivesarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://intellectum.unisabana.edu.co/bitstream/10818/47787/2/license_rdf4460e5956bc1d1639be9ae6146a50347MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/47787/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD5310818/47787oai:intellectum.unisabana.edu.co:10818/477872022-05-10 05:21:08.288Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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
dc.title.es_CO.fl_str_mv	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
title	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
spellingShingle	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives Genetic biomarker Parkinson’s disease Alzheimer’s disease Next generation sequencing Diagnosis Neurodegenerative disease Amyotrophic lateral sclerosis
title_short	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
title_full	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
title_fullStr	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
title_full_unstemmed	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
title_sort	The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
dc.creator.fl_str_mv	García, Julio César Bustos, Rosa Helena
dc.contributor.author.none.fl_str_mv	García, Julio César Bustos, Rosa Helena
dc.subject.other.en.fl_str_mv	Genetic biomarker Parkinson’s disease Alzheimer’s disease Next generation sequencing Diagnosis Neurodegenerative disease Amyotrophic lateral sclerosis
topic	Genetic biomarker Parkinson’s disease Alzheimer’s disease Next generation sequencing Diagnosis Neurodegenerative disease Amyotrophic lateral sclerosis
description	18 páginas
publishDate	2018
dc.date.issued.none.fl_str_mv	2018-12-13
dc.date.available.none.fl_str_mv	2021-07-08T15:02:34Z
dc.date.accessioned.none.fl_str_mv	7/8/2021 10:02
dc.type.en.fl_str_mv	article
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dc.identifier.citation.es_CO.fl_str_mv	García, J.C.y Bustos, R.H. (2018). The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives. Brain Sciences, 8(12), 1-18.
dc.identifier.issn.none.fl_str_mv	2076-3425
dc.identifier.other.none.fl_str_mv	https://www.mdpi.com/2076-3425/8/12/222
dc.identifier.uri.none.fl_str_mv	http://hdl.handle.net/10818/47787
dc.identifier.doi.none.fl_str_mv	10.3390/brainsci8120222
identifier_str_mv	García, J.C.y Bustos, R.H. (2018). The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives. Brain Sciences, 8(12), 1-18. 2076-3425 10.3390/brainsci8120222
url	https://www.mdpi.com/2076-3425/8/12/222 http://hdl.handle.net/10818/47787
dc.language.iso.es_CO.fl_str_mv	spa
language	spa
dc.relation.ispartofseries.none.fl_str_mv	Brain Sciences, 8(12)
dc.rights.*.fl_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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rights_invalid_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2
dc.format.es_CO.fl_str_mv	application/pdf
dc.publisher.es_CO.fl_str_mv	Brain Sciences
dc.source.es_CO.fl_str_mv	Universidad de La Sabana Intellectum Repositorio Universidad de La Sabana
institution	Universidad de la Sabana
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The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives

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