Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Anderson Rodrigues Brandão de PaivaAndré Luiz Santos PessoaPaulo Ribeiro NóbregaCristiane Araujo Martins MorenoDavid S LynchLucas Mitsuo TanigutiJoão Paulo KitajimaFernando FreuaBruno Della-RipaPaulina CunhaIsabella Peixoto de BarcelosLúcia Inês Macedo-SouzaCarlos Augusto TakeuchiAntônio Milton Silva GarciaFlávia NardesRamiro FontãoSérgio Antônio AntoniukMonica TroncosoNorma SpécolaConsuelo DurandBianca de Aguiar Coelho Silva MadeiroMaria Juliana Rodovalho DoriquiDiane VergaraHenry HouldenFernando KokPublished in: Journal of neurology, neurosurgery, and psychiatry (2023)