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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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 |
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CONICET Digital (Consejo Nacional de Investigaciones Científicas y Técnicas) |
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English |
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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 |
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1779316217867141120 |