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pro vyhledávání: '"Flávio c de Rezende‐Filho"'
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