Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions

Autores
Marsili, Luca; Mata, Ignacio F.; Kauffman, Marcelo Andres
Año de publicación
2021
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
With the diffusion of cost-effective genetic analyses, an increase in the spectrum of reported genetic variants associated with sporadic Parkinson’s disease (sPD) (e.g., glucocerebrosidase— GBA) and monogenic parkinsonisms (dominant, recessive, and atypical forms) has been achieved. Each single variant may be associated to distinct prominent phenotypic characteristics helpful for diagnostic and prognostic purposes, thus ushering the era of precision medicine for movement disorders.
Fil: Marsili, Luca. University of Cincinnati; Estados Unidos
Fil: Mata, Ignacio F.. Cleveland Clinic Foundation; Estados Unidos
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Materia
GBA
GENETIC PARKINSONISM
GENOTYPE-PHENOTYPE CORRELATION
LRRK2
SPORADIC PARKINSON'S DISEASE
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/185063
Acceder
id CONICETDig_5eb7d6967f7e1ca274ff6f111ed254c3
oai_identifier_str oai:ri.conicet.gov.ar:11336/185063
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Editorial: Genotype-Phenotype Correlation in Parkinsonian ConditionsMarsili, LucaMata, Ignacio F.Kauffman, Marcelo AndresGBAGENETIC PARKINSONISMGENOTYPE-PHENOTYPE CORRELATIONLRRK2SPORADIC PARKINSON'S DISEASEhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3With the diffusion of cost-effective genetic analyses, an increase in the spectrum of reported genetic variants associated with sporadic Parkinson’s disease (sPD) (e.g., glucocerebrosidase— GBA) and monogenic parkinsonisms (dominant, recessive, and atypical forms) has been achieved. Each single variant may be associated to distinct prominent phenotypic characteristics helpful for diagnostic and prognostic purposes, thus ushering the era of precision medicine for movement disorders.Fil: Marsili, Luca. University of Cincinnati; Estados UnidosFil: Mata, Ignacio F.. Cleveland Clinic Foundation; Estados UnidosFil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFrontiers Media2021-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/185063Marsili, Luca; Mata, Ignacio F.; Kauffman, Marcelo Andres; Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions; Frontiers Media; Frontiers in Neurology; 12; 8-2021; 1-31664-2295CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fneur.2021.743953/fullinfo:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.743953info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:15:37Zoai:ri.conicet.gov.ar:11336/185063instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 15:15:38.017CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
title Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
spellingShingle Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
Marsili, Luca
GBA
GENETIC PARKINSONISM
GENOTYPE-PHENOTYPE CORRELATION
LRRK2
SPORADIC PARKINSON'S DISEASE
title_short Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
title_full Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
title_fullStr Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
title_full_unstemmed Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
title_sort Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
dc.creator.none.fl_str_mv Marsili, Luca
Mata, Ignacio F.
Kauffman, Marcelo Andres
author Marsili, Luca
author_facet Marsili, Luca
Mata, Ignacio F.
Kauffman, Marcelo Andres
author_role author
author2 Mata, Ignacio F.
Kauffman, Marcelo Andres
author2_role author
author
dc.subject.none.fl_str_mv GBA
GENETIC PARKINSONISM
GENOTYPE-PHENOTYPE CORRELATION
LRRK2
SPORADIC PARKINSON'S DISEASE
topic GBA
GENETIC PARKINSONISM
GENOTYPE-PHENOTYPE CORRELATION
LRRK2
SPORADIC PARKINSON'S DISEASE
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv With the diffusion of cost-effective genetic analyses, an increase in the spectrum of reported genetic variants associated with sporadic Parkinson’s disease (sPD) (e.g., glucocerebrosidase— GBA) and monogenic parkinsonisms (dominant, recessive, and atypical forms) has been achieved. Each single variant may be associated to distinct prominent phenotypic characteristics helpful for diagnostic and prognostic purposes, thus ushering the era of precision medicine for movement disorders.
Fil: Marsili, Luca. University of Cincinnati; Estados Unidos
Fil: Mata, Ignacio F.. Cleveland Clinic Foundation; Estados Unidos
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
description With the diffusion of cost-effective genetic analyses, an increase in the spectrum of reported genetic variants associated with sporadic Parkinson’s disease (sPD) (e.g., glucocerebrosidase— GBA) and monogenic parkinsonisms (dominant, recessive, and atypical forms) has been achieved. Each single variant may be associated to distinct prominent phenotypic characteristics helpful for diagnostic and prognostic purposes, thus ushering the era of precision medicine for movement disorders.
publishDate 2021
dc.date.none.fl_str_mv 2021-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/185063
Marsili, Luca; Mata, Ignacio F.; Kauffman, Marcelo Andres; Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions; Frontiers Media; Frontiers in Neurology; 12; 8-2021; 1-3
1664-2295
CONICET Digital
CONICET
url http://hdl.handle.net/11336/185063
identifier_str_mv Marsili, Luca; Mata, Ignacio F.; Kauffman, Marcelo Andres; Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions; Frontiers Media; Frontiers in Neurology; 12; 8-2021; 1-3
1664-2295
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fneur.2021.743953/full
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.743953
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1846083304311226368
score 13.22299

Publicaciones similares