Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman

Autores
Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela Paola; Bidinost, Carla; Rosa, Alberto Luis
Año de publicación
2010
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires; Argentina
Fil: Etcheverry, Jose L.. Instituto de Neurociencias Buenos Aires; Argentina
Fil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Bidinost, Carla. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina
Fil: Rosa, Alberto Luis. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Materia
PANK2 gene
Brain iron accumulation
Neurodegeneration
Phenotype
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:11336/187842
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young womanGatto, Emilia MabelEtcheverry, Jose L.Converso, Daniela PaolaBidinost, CarlaRosa, Alberto LuisPANK2 geneBrain iron accumulationNeurodegenerationPhenotypehttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires; ArgentinaFil: Etcheverry, Jose L.. Instituto de Neurociencias Buenos Aires; ArgentinaFil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Bidinost, Carla. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; ArgentinaFil: Rosa, Alberto Luis. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaWiley-liss, div John Wiley & Sons Inc.2010-10-15info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/187842Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela Paola; Bidinost, Carla; Rosa, Alberto Luis; Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman; Wiley-liss, div John Wiley & Sons Inc.; Movement Disorders; 25; 13; 15-10-2010; 2262-22640885-31851531-8257CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.23063info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.23063info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:26:54Zoai:ri.conicet.gov.ar:11336/187842instacron: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:34982025-10-22 11:26:54.647CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
title Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
spellingShingle Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
Gatto, Emilia Mabel
PANK2 gene
Brain iron accumulation
Neurodegeneration
Phenotype
title_short Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
title_full Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
title_fullStr Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
title_full_unstemmed Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
title_sort Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman
dc.creator.none.fl_str_mv Gatto, Emilia Mabel
Etcheverry, Jose L.
Converso, Daniela Paola
Bidinost, Carla
Rosa, Alberto Luis
author Gatto, Emilia Mabel
author_facet Gatto, Emilia Mabel
Etcheverry, Jose L.
Converso, Daniela Paola
Bidinost, Carla
Rosa, Alberto Luis
author_role author
author2 Etcheverry, Jose L.
Converso, Daniela Paola
Bidinost, Carla
Rosa, Alberto Luis
author2_role author
author
author
author
dc.subject.none.fl_str_mv PANK2 gene
Brain iron accumulation
Neurodegeneration
Phenotype
topic PANK2 gene
Brain iron accumulation
Neurodegeneration
Phenotype
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires; Argentina
Fil: Etcheverry, Jose L.. Instituto de Neurociencias Buenos Aires; Argentina
Fil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Bidinost, Carla. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina
Fil: Rosa, Alberto Luis. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
description Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.
publishDate 2010
dc.date.none.fl_str_mv 2010-10-15
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/11336/187842
Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela Paola; Bidinost, Carla; Rosa, Alberto Luis; Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman; Wiley-liss, div John Wiley & Sons Inc.; Movement Disorders; 25; 13; 15-10-2010; 2262-2264
0885-3185
1531-8257
CONICET Digital
CONICET
url http://hdl.handle.net/11336/187842
identifier_str_mv Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela Paola; Bidinost, Carla; Rosa, Alberto Luis; Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman; Wiley-liss, div John Wiley & Sons Inc.; Movement Disorders; 25; 13; 15-10-2010; 2262-2264
0885-3185
1531-8257
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://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.23063
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.23063
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 Wiley-liss, div John Wiley & Sons Inc.
publisher.none.fl_str_mv Wiley-liss, div John Wiley & Sons Inc.
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_ 1846781832012496896
score 12.982451

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