Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Estela da Rosa Reckziegel"'
Autor:
Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe
Externí odkaz:
https://doaj.org/article/b2f35c7d4e7949df8c841d084a80654a
Autor:
Amanda Senna Pereira dos Santos, Vanessa Bielefeldt Leotti, Lucas Dorídio Locks-Coelho, Eduardo Preusser de Mattos, Marina Coutinho Augustin, Laura Bannach Jardim, Maria Luiza Saraiva-Pereira, José Luiz Pedroso, Suzi Alves Camey, Orlando G P Barsottini, Fernando Regla Vargas, Estela da Rosa Reckziegel, Gabriel Vasata Furtado, Thais Lampert Monte
Publikováno v:
Orphanet journal of rare diseases, 13(1):20. BMC
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Background Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe the prog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4faaa2801385d2b75ee621fd452bd4f8
https://research.rug.nl/en/publications/40aa0023-836b-434e-9c17-a17c627e2a75
https://research.rug.nl/en/publications/40aa0023-836b-434e-9c17-a17c627e2a75
Autor:
Thais Lampert Monte, Marina Coutinho Augustin, Orlando Graziani Povoas Barsottini, Maria Luiza Saraiva-Pereira, Fernanda dos Santos Pereira, José Luiz Pedroso, Laura Bannach Jardim, Fernando Regla Vargas, Estela da Rosa Reckziegel, Amanda Senna Pereira dos Santos, Lucas Dorídio Locks-Coelho, Rede Neurogenética
Publikováno v:
Parkinsonismrelated disorders. 42
Background Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2. SCA2 presents great clinical variability, alongside characteristic ataxia with saccadic slowness. Aims To study parkinsonism, dementia, dystonia, and amyotro