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Author/Creator Freua, Fernando

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

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; Tak...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 94:Issue 5(2023)
Page Start:
405
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. (February 2019)

Authors:
de Paiva, Anderson Rodrigues Brandão; Lynch, David S.; Melo, Uirá Souto; Lucato, Leandro Tavares; Freua, Fernando; de Assis, Bruno Della Ripa; Barcelos, Isabella; Listik, Clarice; de Castro dos Santos, Diego; Macedo-Souza, Lúcia Inês; Houlden, Henry; Kok, Fernando
Journal:
Neurology
Issue:
Volume 5:Number 1(2019)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗