Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia

por Freua, Fernando, Almeida, Mariana Espíndola de Castro, Nóbrega, Paulo Ribeiro, de Paiva, Anderson Rodrigues Brandão, Della-Ripa, Bruno, Cunha, Paulina, Macedo-Souza, Lúcia Inês, Bueno, Clarissa, Lynch, David S., Houlden, Henry, Lucato, Leandro Tavares, Kok, Fernando
Publicado 2022

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

por 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
Publicado 2019

Clinical and genetic characterization of leukoencephalopathies in adults

por Lynch, David S., Rodrigues Brandão de Paiva, Anderson, Zhang, Wei Jia, Bugiardini, Enrico, Freua, Fernando, Tavares Lucato, Leandro, Macedo-Souza, Lucia Inês, Lakshmanan, Rahul, Kinsella, Justin A., Merwick, Aine, Rossor, Alexander M., Bajaj, Nin, Herron, Brian, McMonagle, Paul, Morrison, Patrick J., Hughes, Deborah, Pittman, Alan, Laurà, Matilde, Reilly, Mary M, Warren, Jason D, Mummery, Catherine J, Schott, Jonathan M., Adams, Matthew, Fox, Nick C., Murphy, Elaine, Davagnanam, Indran, Kok, Fernando, Chataway, Jeremy, Houlden, Henry
Publicado 2017