Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Anderson Rodrigues Brandão de Paiva,André Luiz Santos Pessoa,Paulo Ribeiro Nóbrega, Cristiane Araujo Martins Moreno,David S Lynch,Lucas Mitsuo Taniguti,João Paulo Kitajima,Fernando Freua,Bruno Della-Ripa,Paulina Cunha,Isabella Peixoto de Barcelos,Lúcia Inês Macedo-Souza, Carlos Augusto Takeuchi, Antônio Milton Silva Garcia, Flávia Nardes, Ramiro Fontão, Sérgio Antônio Antoniuk,Mónica Troncoso,Norma Spécola,Consuelo Durand, Bianca de Aguiar Coelho Silva Madeiro, Maria Juliana Rodovalho Doriqui,Diane Vergara,Henry Houlden,Fernando Kok Journal of neurology, neurosurgery, and psychiatry（2023）
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cerebellar ataxia,epilepsy,neurogenetics,paediatric neurology
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