Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
Autor(a) principal: | |
---|---|
Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , |
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 |
id |
UFRN_b8eab9f9370d2639e2434004824def71 |
---|---|
oai_identifier_str |
oai:https://repositorio.ufrn.br:123456789/52786 |
network_acronym_str |
UFRN |
network_name_str |
Repositório Institucional da UFRN |
repository_id_str |
|
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 |
format |
article |
status_str |
publishedVersion |
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 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFRN instname:Universidade Federal do Rio Grande do Norte (UFRN) instacron:UFRN |
instname_str |
Universidade Federal do Rio Grande do Norte (UFRN) |
instacron_str |
UFRN |
institution |
UFRN |
reponame_str |
Repositório Institucional da UFRN |
collection |
Repositório Institucional da UFRN |
bitstream.url.fl_str_mv |
https://repositorio.ufrn.br/bitstream/123456789/52786/2/license.txt |
bitstream.checksum.fl_str_mv |
e9597aa2854d128fd968be5edc8a28d9 |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN) |
repository.mail.fl_str_mv |
|
_version_ |
1813891301698961408 |