Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. Issue 5 (3rd February 2023)

• Record Type: Journal Article
• Authors: Paiva, Anderson Rodrigues Brandão de; Pessoa, André Luiz Santos; Nóbrega, Paulo Ribeiro; Moreno, Cristiane Araujo Martins; Lynch, David S; Taniguti, Lucas Mitsuo; Kitajima, João Paulo; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; Peixoto de Barcelos, Isabella; Macedo-Souza, Lúcia Inês; Takeuchi, Carlos Augusto; Garcia, Antônio Milton Silva; Nardes, Flávia; Fontão, Ramiro; Antoniuk, Sérgio Antônio; Troncoso, Monica; Spécola, Norma; Durand, Consuelo; Madeiro, Bianca de Aguiar Coelho Silva; Doriqui, Maria Juliana Rodovalho; Vergara, Diane; Houlden, Henry; Kok, Fernando
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 94:Issue 5(2023)
• Page Start: 405
• Page End: 408
• Publication Date: 2023-02-03
• Subjects: neurogenetics -- cerebellar ataxia -- epilepsy -- paediatric neurology; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-330135
• Languages: English
• ISSNs: 0022-3050