Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Paula Camila Alves de Assis Pereira Matos"'
Autor:
Sophia Caldas Gonzaga da Costa, Flávio c de Rezende‐Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della‐Ripa, Marcondes Cavalcante França, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso, Orlando G.P. Barsottini
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(6)
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d787c0c9537b0c297df65a686383af9
https://pubmed.ncbi.nlm.nih.gov/35426160
https://pubmed.ncbi.nlm.nih.gov/35426160
Autor:
Antônio José da Rocha, Marcio Luiz Escorcio Bezerra, Maria Thereza Drumond Gama, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Paula Camila Alves de Assis Pereira Matos
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886382c168bd8a3a82c34ad5fdd60019
https://doi.org/10.1002/mdc3.12945
https://doi.org/10.1002/mdc3.12945
Autor:
Wilson Marques, Thiago Junqueira Ribeiro de Rezende, Pedro J. Tomaselli, Fernando Cendes, José Luiz Pedroso, Fabrício Diniz de Lima, Manoella Guerra de Albuquerque Bueno, Gabriel da Silva Schmitt, Alberto R. M. Martinez, Paula Camila Alves de Assis Pereira Matos, MarcondesCavalcante França, Fabiano Reis, Luciana Cardoso Bonadia, Orlando Graziani Povoas Barsottini
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 36(11)
Background The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late-onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c996fd4ae43ff90614fcf0423d7fd290
https://pubmed.ncbi.nlm.nih.gov/34241918
https://pubmed.ncbi.nlm.nih.gov/34241918
Autor:
Orlando Graziani Povoas Barsottini, Paula Camila Alves de Assis Pereira Matos, Carolina Sanchez Aranda, José Luiz Pedroso, Juliana Harumi Arita, Karyme Hussein Daghastanli, Vinícius Boaratti Ciarlariello, Ivana Rocha Raslan, Augusto Bragança Reis Rosa
Publikováno v:
Mov Disord Clin Pract
Background Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha-fetoprotein and negative genetic test may direct to alternative diagnosis with sim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827a75754fc1d9abd1e2932c50f63478
https://europepmc.org/articles/PMC7780949/
https://europepmc.org/articles/PMC7780949/
