Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients

Detalhes bibliográficos
Autor(a) principal: Godeiro Junior, Clécio de Oliveira
Data de Publicação: 2020
Outros Autores: Gama, Maria Thereza D., Braga-Neto, Pedro, Rangel, Deborah M., Silva, Rodrigo de Alencar e, Embiruçu, Emília K., Cornejo-Olivas, Mario, Sarapura-Castro, Elison, Awad, Paula Saffie, Chesta, Daniela Muñoz, Kauffman, Marcelo, Quiroga, Sergio Rodriguez, Jardim, Laura B., Graça, Felipe F. da, França Junior, Marcondes C., Tomaselli, Pedro J., Marques Junior, Wilson, Teive, Helio A.G., Barsottini, Orlando G.P., Pedroso, José Luiz, Synofzik, Matthis
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRN
Texto Completo: https://repositorio.ufrn.br/handle/123456789/52786
https://doi.org/10.1002/mds.29046
Resumo: Autosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genes
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spelling Godeiro Junior, Clécio de OliveiraGama, Maria Thereza D.Braga-Neto, PedroRangel, Deborah M.Silva, Rodrigo de Alencar eEmbiruçu, Emília K.Cornejo-Olivas, MarioSarapura-Castro, ElisonAwad, Paula SaffieChesta, Daniela MuñozKauffman, MarceloQuiroga, Sergio RodriguezJardim, Laura B.Graça, Felipe F. daFrança Junior, Marcondes C.Tomaselli, Pedro J.Marques Junior, WilsonTeive, Helio A.G.Barsottini, Orlando G.P.Pedroso, José LuizSynofzik, Matthis0000-0002-4312-16332023-06-20T19:02:40Z2023-06-20T19:02:40Z2020-11-03GODEIRO, Clécio de Oliveira; et al. Autosomal Recessive Cerebellar Ataxias in South America: a multicenter study of 1338 patients. Movement Disorders, [S.L.], v. 37, n. 8, p. 1773-1774, 4 maio 2022. Wiley. http://dx.doi.org/10.1002/mds.29046. Disponível em: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29046. Acesso em: 20 jun. 2023.https://repositorio.ufrn.br/handle/123456789/52786https://doi.org/10.1002/mds.29046Elsevierautosomal recessive cerebellar ataxiasARCAscomplex genetic ataxia disordersAutosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patientsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleAutosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genesengreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNinfo:eu-repo/semantics/openAccessLICENSElicense.txtlicense.txttext/plain; charset=utf-81484https://repositorio.ufrn.br/bitstream/123456789/52786/2/license.txte9597aa2854d128fd968be5edc8a28d9MD52123456789/527862023-06-20 16:02:57.416oai:https://repositorio.ufrn.br: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Repositório de PublicaçõesPUBhttp://repositorio.ufrn.br/oai/opendoar:2023-06-20T19:02:57Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false
dc.title.pt_BR.fl_str_mv Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
title Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
spellingShingle Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
Godeiro Junior, Clécio de Oliveira
autosomal recessive cerebellar ataxias
ARCAs
complex genetic ataxia disorders
title_short Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
title_full Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
title_fullStr Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
title_full_unstemmed Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
title_sort Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
author Godeiro Junior, Clécio de Oliveira
author_facet Godeiro Junior, Clécio de Oliveira
Gama, Maria Thereza D.
Braga-Neto, Pedro
Rangel, Deborah M.
Silva, Rodrigo de Alencar e
Embiruçu, Emília K.
Cornejo-Olivas, Mario
Sarapura-Castro, Elison
Awad, Paula Saffie
Chesta, Daniela Muñoz
Kauffman, Marcelo
Quiroga, Sergio Rodriguez
Jardim, Laura B.
Graça, Felipe F. da
França Junior, Marcondes C.
Tomaselli, Pedro J.
Marques Junior, Wilson
Teive, Helio A.G.
Barsottini, Orlando G.P.
Pedroso, José Luiz
Synofzik, Matthis
author_role author
author2 Gama, Maria Thereza D.
Braga-Neto, Pedro
Rangel, Deborah M.
Silva, Rodrigo de Alencar e
Embiruçu, Emília K.
Cornejo-Olivas, Mario
Sarapura-Castro, Elison
Awad, Paula Saffie
Chesta, Daniela Muñoz
Kauffman, Marcelo
Quiroga, Sergio Rodriguez
Jardim, Laura B.
Graça, Felipe F. da
França Junior, Marcondes C.
Tomaselli, Pedro J.
Marques Junior, Wilson
Teive, Helio A.G.
Barsottini, Orlando G.P.
Pedroso, José Luiz
Synofzik, Matthis
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.authorID.pt_BR.fl_str_mv 0000-0002-4312-1633
dc.contributor.author.fl_str_mv Godeiro Junior, Clécio de Oliveira
Gama, Maria Thereza D.
Braga-Neto, Pedro
Rangel, Deborah M.
Silva, Rodrigo de Alencar e
Embiruçu, Emília K.
Cornejo-Olivas, Mario
Sarapura-Castro, Elison
Awad, Paula Saffie
Chesta, Daniela Muñoz
Kauffman, Marcelo
Quiroga, Sergio Rodriguez
Jardim, Laura B.
Graça, Felipe F. da
França Junior, Marcondes C.
Tomaselli, Pedro J.
Marques Junior, Wilson
Teive, Helio A.G.
Barsottini, Orlando G.P.
Pedroso, José Luiz
Synofzik, Matthis
dc.subject.por.fl_str_mv autosomal recessive cerebellar ataxias
ARCAs
complex genetic ataxia disorders
topic autosomal recessive cerebellar ataxias
ARCAs
complex genetic ataxia disorders
description Autosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genes
publishDate 2020
dc.date.issued.fl_str_mv 2020-11-03
dc.date.accessioned.fl_str_mv 2023-06-20T19:02:40Z
dc.date.available.fl_str_mv 2023-06-20T19:02:40Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.citation.fl_str_mv GODEIRO, Clécio de Oliveira; et al. Autosomal Recessive Cerebellar Ataxias in South America: a multicenter study of 1338 patients. Movement Disorders, [S.L.], v. 37, n. 8, p. 1773-1774, 4 maio 2022. Wiley. http://dx.doi.org/10.1002/mds.29046. Disponível em: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29046. Acesso em: 20 jun. 2023.
dc.identifier.uri.fl_str_mv https://repositorio.ufrn.br/handle/123456789/52786
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1002/mds.29046
identifier_str_mv GODEIRO, Clécio de Oliveira; et al. Autosomal Recessive Cerebellar Ataxias in South America: a multicenter study of 1338 patients. Movement Disorders, [S.L.], v. 37, n. 8, p. 1773-1774, 4 maio 2022. Wiley. http://dx.doi.org/10.1002/mds.29046. Disponível em: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29046. Acesso em: 20 jun. 2023.
url https://repositorio.ufrn.br/handle/123456789/52786
https://doi.org/10.1002/mds.29046
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dc.publisher.none.fl_str_mv Elsevier
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