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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/185063
Ver los metadatos del registro completo
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 Técnicas2025-09-29T10:18:25Zoai: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:34982025-09-29 10:18:25.798CONICET 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_ |
1844614146027421696 |
score |
13.070432 |