Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia

ATP13A2 mutations have been implicated in juvenile parkinsonism (PARK9) and neuronal ceroid lipofuscinosis [1]. Recently, association with complicated hereditary spastic paraplegia (HSP) and an amyotrophic lateral sclerosis-like phenotype have been reported. Fil: Miranda, Marcelo Fabian. Clinica Las...

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Published in:Parkinsonism & Related Disorders
Main Authors: Miranda, Marcelo Fabian, Harmuth, Florian, Bustamante, M. Leonor, Rossi, Malco Damian, Sturm, Marc, Magnusson, Ólafur Th, Bauer, Peter, Klockgether, Thomas, Ramirez, Alfredo
Format: Article in Journal/Newspaper
Language:English
Published: Elsevier
Subjects:
ATP13A2
KUFOR-RAKEB SYNDROME
PARKINSONISM
SPG78
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
Argentina
Sturm
Ramirez
Islandia
Online Access:http://hdl.handle.net/11336/211363
id ftconicet:oai:ri.conicet.gov.ar:11336/211363
record_format openpolar
spelling ftconicet:oai:ri.conicet.gov.ar:11336/211363 2023-10-09T21:53:00+02:00 Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia Miranda, Marcelo Fabian Harmuth, Florian Bustamante, M. Leonor Rossi, Malco Damian Sturm, Marc Magnusson, Ólafur Th Bauer, Peter Klockgether, Thomas Ramirez, Alfredo application/pdf http://hdl.handle.net/11336/211363 eng eng Elsevier info:eu-repo/semantics/altIdentifier/doi/10.1016/j.parkreldis.2020.10.004 info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1353802020307847 http://hdl.handle.net/11336/211363 Miranda, Marcelo Fabian; Harmuth, Florian; Bustamante, M. Leonor; Rossi, Malco Damian; Sturm, Marc; et al.; Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia; Elsevier; Parkinsonism & Related Disorders; 81; 12-2020; 45-47 1353-8020 CONICET Digital CONICET info:eu-repo/semantics/restrictedAccess https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ ATP13A2 KUFOR-RAKEB SYNDROME PARKINSONISM SPG78 https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 info:eu-repo/semantics/article info:ar-repo/semantics/artículo info:eu-repo/semantics/publishedVersion ftconicet https://doi.org/10.1016/j.parkreldis.2020.10.004 2023-09-24T19:43:02Z ATP13A2 mutations have been implicated in juvenile parkinsonism (PARK9) and neuronal ceroid lipofuscinosis [1]. Recently, association with complicated hereditary spastic paraplegia (HSP) and an amyotrophic lateral sclerosis-like phenotype have been reported. Fil: Miranda, Marcelo Fabian. Clinica Las Condes; Chile. Fundación Diagnosis; Chile Fil: Harmuth, Florian. Eberhard Karls Universität Tübingen; Alemania Fil: Bustamante, M. Leonor. Clinica Las Condes; Chile. Fundación Diagnosis; Chile. Universidad de Chile; Chile Fil: Rossi, Malco Damian. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; Argentina Fil: Sturm, Marc. Eberhard Karls Universität Tübingen; Alemania Fil: Magnusson, Ólafur Th. Decode Genetics; Islandia Fil: Bauer, Peter. Eberhard Karls Universität Tübingen; Alemania Fil: Klockgether, Thomas. Universitat Bonn; Alemania Fil: Ramirez, Alfredo. Universitat Bonn; Alemania Article in Journal/Newspaper Islandia CONICET Digital (Consejo Nacional de Investigaciones Científicas y Técnicas) Argentina Sturm ENVELOPE(162.967,162.967,-71.050,-71.050) Ramirez ENVELOPE(-56.683,-56.683,-63.583,-63.583) Parkinsonism & Related Disorders 81 45 47
institution Open Polar
collection CONICET Digital (Consejo Nacional de Investigaciones Científicas y Técnicas)
op_collection_id ftconicet
language English
topic ATP13A2
KUFOR-RAKEB SYNDROME
PARKINSONISM
SPG78
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
spellingShingle ATP13A2
KUFOR-RAKEB SYNDROME
PARKINSONISM
SPG78
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
Miranda, Marcelo Fabian
Harmuth, Florian
Bustamante, M. Leonor
Rossi, Malco Damian
Sturm, Marc
Magnusson, Ólafur Th
Bauer, Peter
Klockgether, Thomas
Ramirez, Alfredo
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia
topic_facet ATP13A2
KUFOR-RAKEB SYNDROME
PARKINSONISM
SPG78
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
description ATP13A2 mutations have been implicated in juvenile parkinsonism (PARK9) and neuronal ceroid lipofuscinosis [1]. Recently, association with complicated hereditary spastic paraplegia (HSP) and an amyotrophic lateral sclerosis-like phenotype have been reported. Fil: Miranda, Marcelo Fabian. Clinica Las Condes; Chile. Fundación Diagnosis; Chile Fil: Harmuth, Florian. Eberhard Karls Universität Tübingen; Alemania Fil: Bustamante, M. Leonor. Clinica Las Condes; Chile. Fundación Diagnosis; Chile. Universidad de Chile; Chile Fil: Rossi, Malco Damian. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia. Instituto de Neurociencias - Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Neurociencias; Argentina Fil: Sturm, Marc. Eberhard Karls Universität Tübingen; Alemania Fil: Magnusson, Ólafur Th. Decode Genetics; Islandia Fil: Bauer, Peter. Eberhard Karls Universität Tübingen; Alemania Fil: Klockgether, Thomas. Universitat Bonn; Alemania Fil: Ramirez, Alfredo. Universitat Bonn; Alemania
format Article in Journal/Newspaper
author Miranda, Marcelo Fabian
Harmuth, Florian
Bustamante, M. Leonor
Rossi, Malco Damian
Sturm, Marc
Magnusson, Ólafur Th
Bauer, Peter
Klockgether, Thomas
Ramirez, Alfredo
author_facet Miranda, Marcelo Fabian
Harmuth, Florian
Bustamante, M. Leonor
Rossi, Malco Damian
Sturm, Marc
Magnusson, Ólafur Th
Bauer, Peter
Klockgether, Thomas
Ramirez, Alfredo
author_sort Miranda, Marcelo Fabian
title Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia
title_short Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia
title_full Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia
title_fullStr Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia
title_full_unstemmed Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia
title_sort intermediate phenotype of atp13a2 mutation in two chilean siblings: towards a continuum between parkinsonism and hereditary spastic paraplegia
publisher Elsevier
url http://hdl.handle.net/11336/211363
long_lat ENVELOPE(162.967,162.967,-71.050,-71.050)
ENVELOPE(-56.683,-56.683,-63.583,-63.583)
geographic Argentina
Sturm
Ramirez
geographic_facet Argentina
Sturm
Ramirez
genre Islandia
genre_facet Islandia
op_relation info:eu-repo/semantics/altIdentifier/doi/10.1016/j.parkreldis.2020.10.004
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1353802020307847
http://hdl.handle.net/11336/211363
Miranda, Marcelo Fabian; Harmuth, Florian; Bustamante, M. Leonor; Rossi, Malco Damian; Sturm, Marc; et al.; Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia; Elsevier; Parkinsonism & Related Disorders; 81; 12-2020; 45-47
1353-8020
CONICET Digital
CONICET
op_rights info:eu-repo/semantics/restrictedAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
op_doi https://doi.org/10.1016/j.parkreldis.2020.10.004
container_title Parkinsonism & Related Disorders
container_volume 81
container_start_page 45
op_container_end_page 47
_version_ 1779316217867141120

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