Search Results - "Sayão Souza, Katiane"

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome by Paiva, Anderson Rodrigues Brandão de, Melo, Uirá Souto, Freua, Fernando, Dória, Denise, Cabral, Katiane Sayão Souza, Macedo-Souza, Lúcia Inês, Lucato, Leandro Tavares, Kok, Fernando

“…Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by ichthyosis, intellectual disability, spastic paraplegia, macular dystrophy, and…”
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Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11 by Nóbrega, Paulo Ribeiro, Paiva, Anderson Rodrigues Brandão, Amorim Junior, Antonio Duarte, Lima, Pedro Lucas Grangeiro Sá Barreto, Cabral, Katiane Sayão Souza, Barcelos, Isabella Peixoto, Pessoa, André Luis Santos, Souza-Lima, Carlos Frederico Leite, Castro, Matheus Augusto Araújo, Freua, Fernando, Santos, Emerson de Santana, Rocha, Margleice Marinho Vieira, Maia, Rayana Elias, Araújo, Rodrigo Santos, Ramos, Juan David Guevara, Resende, Rosane Guazi, Carvalho, Gerson da Silva, Valença, Luciana Patrizia Andrade, Lima de Carvalho, José Ronaldo, Melo, Eduardo Sousa, Pedroso, José Luiz, Barsottini, Orlando Graziani Povoas, Houlden, Henry, Kok, Fernando, Lynch, David S.

“…Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated families so far. Further reports are necessary to comprehend…”
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A novel complex neurological phenotype due to a homozygous mutation in FDX2 by Gurgel-Giannetti, Juliana, Lynch, David S, Paiva, Anderson Rodrigues Brandão de, Lucato, Leandro Tavares, Yamamoto, Guilherme, Thomsen, Christer, Basu, Somsuvro, Freua, Fernando, Giannetti, Alexandre Varella, de Assis, Bruno Della Ripa, Ribeiro, Mara Dell Ospedale, Barcelos, Isabella, Sayão Souza, Katiane, Monti, Fernanda, Melo, Uirá Souto, Amorim, Simone, Silva, Leonardo G L, Macedo-Souza, Lúcia Inês, Vianna-Morgante, Angela M, Hirano, Michio, Van der Knaap, Marjo S, Lill, Roland, Vainzof, Mariz, Oldfors, Anders, Houlden, Henry, Kok, Fernando

“…Gurgel-Giannetti et al. describe a novel syndrome characterised by optic atrophy, sensory-motor neuropathy, recurrent rhabdomyolysis and reversible…”
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Typical clinical and neuroimaging features in Sjögren-Larsson syndrome by Paiva, Anderson Rodrigues Brandão de, Melo, Uirá Souto, Freua, Fernando, Dória, Denise, Cabral, Katiane Sayão Souza, Macedo-Souza, Lúcia Inês, Lucato, Leandro Tavares, Kok, Fernando

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