Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sophia Caldas Gonzaga da Costa"'
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:
Mariana Santos, Sophia Caldas Gonzaga da Costa, Orlando Graziani Povoas Barsottini, Isabel Alonso, José Luiz Pedroso, Thiago Cardoso Vale
Publikováno v:
Tremor and Other Hyperkinetic Movements
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276485702ba751861f3a3824d5fc4058
http://europepmc.org/articles/PMC7546098
http://europepmc.org/articles/PMC7546098