Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
- Resource Type
- Article
- Authors
- Brandão de Paiva, Anderson Rodrigues; Santos Pessoa, André Luiz; Ribeiro Nóbrega, Paulo; Martins Moreno, Cristiane Araujo; Lynch, David S.; Taniguti, Lucas Mitsuo; Paulo Kitajima, João; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; Peixoto de Barcelos, Isabella; Inês Macedo-Souza, Lúcia; Augusto Takeuchi, Carlos; Silva Garcia, Antônio Milton; Nardes, Flávia; Fontão, Ramiro; Antônio Antoniuk, Sérgio; Troncoso, Monica; Spécola, Norma; Durand, Consuelo
- Source
- Journal of Neurology, Neurosurgery & Psychiatry; May2023, Vol. 94 Issue 5, p405-408, 4p
- Subject
- NEURONAL ceroid-lipofuscinosis
EPILEPSY
PHENOTYPES
NEUROMUSCULAR diseases
- Language
- ISSN
- 00223050