Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description

Autores
Perandones, Claudia; Aráoz Olivos, Natalia Silvana; Raina, G. B.; Pellene, L. A.; Giugni, J. C.; Calvo, D. S.; Radrizzani Helguera, Martin; Piedimonte, F.; Micheli, F. E.
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
DBS is an established therapy for advanced PD [1] and has been reported to be efficacious in a few patients with monogenic parkinsonisms such as LRRK2, Parkin, and PINK1 [2–6]. By contrast, knowledge about the outcome of DBS in patients with SNCA mutations is scarce, since only one case has been reported to date
Fil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud "Dr. C. G. Malbrán"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Aráoz Olivos, Natalia Silvana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Raina, G. B.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Pellene, L. A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Giugni, J. C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Calvo, D. S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Radrizzani Helguera, Martin. Universidad Nacional de San Martín; Argentina
Fil: Piedimonte, F.. Fundación CENIT para la Investigación en Neurociencias; Argentina
Fil: Micheli, F. E.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Materia
Parkinsons disease
α-Synuclein duplication
Mosaicism
Deep Brain Stimulation
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/100550
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/100550
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first descriptionPerandones, ClaudiaAráoz Olivos, Natalia SilvanaRaina, G. B.Pellene, L. A.Giugni, J. C.Calvo, D. S.Radrizzani Helguera, MartinPiedimonte, F.Micheli, F. E.Parkinsons diseaseα-Synuclein duplicationMosaicismDeep Brain Stimulationhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1DBS is an established therapy for advanced PD [1] and has been reported to be efficacious in a few patients with monogenic parkinsonisms such as LRRK2, Parkin, and PINK1 [2–6]. By contrast, knowledge about the outcome of DBS in patients with SNCA mutations is scarce, since only one case has been reported to dateFil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud "Dr. C. G. Malbrán"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Aráoz Olivos, Natalia Silvana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Raina, G. B.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Pellene, L. A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Giugni, J. C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Calvo, D. S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Radrizzani Helguera, Martin. Universidad Nacional de San Martín; ArgentinaFil: Piedimonte, F.. Fundación CENIT para la Investigación en Neurociencias; ArgentinaFil: Micheli, F. E.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaSpringer2014-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/100550Perandones, Claudia; Aráoz Olivos, Natalia Silvana; Raina, G. B.; Pellene, L. A.; Giugni, J. C.; et al.; Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description; Springer; Journal Of Neurology; 262; 1; 11-2014; 222-2230340-5354CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007%2Fs00415-014-7576-4info:eu-repo/semantics/altIdentifier/doi/10.1007%2Fs00415-014-7576-4info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:55:35Zoai:ri.conicet.gov.ar:11336/100550instacron: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:34982025-09-03 09:55:35.751CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
title Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
spellingShingle Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
Perandones, Claudia
Parkinsons disease
α-Synuclein duplication
Mosaicism
Deep Brain Stimulation
title_short Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
title_full Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
title_fullStr Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
title_full_unstemmed Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
title_sort Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description
dc.creator.none.fl_str_mv Perandones, Claudia
Aráoz Olivos, Natalia Silvana
Raina, G. B.
Pellene, L. A.
Giugni, J. C.
Calvo, D. S.
Radrizzani Helguera, Martin
Piedimonte, F.
Micheli, F. E.
author Perandones, Claudia
author_facet Perandones, Claudia
Aráoz Olivos, Natalia Silvana
Raina, G. B.
Pellene, L. A.
Giugni, J. C.
Calvo, D. S.
Radrizzani Helguera, Martin
Piedimonte, F.
Micheli, F. E.
author_role author
author2 Aráoz Olivos, Natalia Silvana
Raina, G. B.
Pellene, L. A.
Giugni, J. C.
Calvo, D. S.
Radrizzani Helguera, Martin
Piedimonte, F.
Micheli, F. E.
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Parkinsons disease
α-Synuclein duplication
Mosaicism
Deep Brain Stimulation
topic Parkinsons disease
α-Synuclein duplication
Mosaicism
Deep Brain Stimulation
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv DBS is an established therapy for advanced PD [1] and has been reported to be efficacious in a few patients with monogenic parkinsonisms such as LRRK2, Parkin, and PINK1 [2–6]. By contrast, knowledge about the outcome of DBS in patients with SNCA mutations is scarce, since only one case has been reported to date
Fil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud "Dr. C. G. Malbrán"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Aráoz Olivos, Natalia Silvana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Raina, G. B.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Pellene, L. A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Giugni, J. C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Calvo, D. S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Radrizzani Helguera, Martin. Universidad Nacional de San Martín; Argentina
Fil: Piedimonte, F.. Fundación CENIT para la Investigación en Neurociencias; Argentina
Fil: Micheli, F. E.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
description DBS is an established therapy for advanced PD [1] and has been reported to be efficacious in a few patients with monogenic parkinsonisms such as LRRK2, Parkin, and PINK1 [2–6]. By contrast, knowledge about the outcome of DBS in patients with SNCA mutations is scarce, since only one case has been reported to date
publishDate 2014
dc.date.none.fl_str_mv 2014-11
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/11336/100550
Perandones, Claudia; Aráoz Olivos, Natalia Silvana; Raina, G. B.; Pellene, L. A.; Giugni, J. C.; et al.; Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description; Springer; Journal Of Neurology; 262; 1; 11-2014; 222-223
0340-5354
CONICET Digital
CONICET
url http://hdl.handle.net/11336/100550
identifier_str_mv Perandones, Claudia; Aráoz Olivos, Natalia Silvana; Raina, G. B.; Pellene, L. A.; Giugni, J. C.; et al.; Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description; Springer; Journal Of Neurology; 262; 1; 11-2014; 222-223
0340-5354
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://link.springer.com/article/10.1007%2Fs00415-014-7576-4
info:eu-repo/semantics/altIdentifier/doi/10.1007%2Fs00415-014-7576-4
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
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_ 1842269353776513024
score 13.13397

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