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Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

Sophia Caldas Gonzaga da CostaFlavio Moura Rezende FilhoJúlian Leticia de FreitasPaula Camila Alves de Assis Pereira MatosBruno Della-RipaMarcondes Cavalcante de França JuniorWilson MarquesMariana SantosIgor Vasconcelos Barros CronembergerThiago Cardoso ValeFernando KokIsabel AlonsoJosé Luiz PedrosoOrlando G P Barsottini
Published in: Movement disorders : official journal of the Movement Disorder Society (2022)
AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society.
Keyphrases
  • dna repair
  • genome wide
  • early onset
  • copy number
  • dna damage