FERNANDO KOK
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
9 resultados
Resultados de Busca
Agora exibindo 1 - 9 de 9
- Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings(2023) PAIVA, Anderson Rodrigues Brandao de; PESSOA, Andre Luiz Santos; NOBREGA, Paulo Ribeiro; MORENO, Cristiane Araujo Martins; LYNCH, David S.; TANIGUTI, Lucas Mitsuo; KITAJIMA, Joao Paulo; FREUA, Fernando; DELLA-RIPA, Bruno; CUNHA, Paulina; BARCELOS, Isabella Peixoto de; MACEDO-SOUZA, Lucia Ines; TAKEUCHI, Carlos Augusto; GARCIA, Antonio Milton Silva; NARDES, Flavia; FONTAO, Ramiro; ANTONIUK, Sergio Antonio; TRONCOSO, Monica; SPECOLA, Norma; DURAND, Consuelo; MADEIRO, Bianca de Aguiar Coelho Silva; DORIQUI, Maria Juliana Rodovalho; VERGARA, Diane; HOULDEN, Henry; KOK, Fernando
- SCA23 and prodynorphin: is it time for gene retraction?(2016) PEDROSO, Jose Luiz; VALE, Thiago Cardoso; FREUA, Fernando; BARSOTTINI, Orlando G. P.; KOK, Fernando
- Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations(2018) MELO, U. S.; FREUA, F.; LYNCH, D. S.; RIPA, B. D.; TENORIO, R. B.; SAUTE, J. A. M.; LEITE, F. de Souza; KITAJIMA, J.; HOULDEN, H.; ZATZ, M.; KOK, F.
- A novel GFAP mutation in a type II (late-onset) Alexander disease patient(2016) PAIVA, Anderson Rodrigues Brandao de; FREUA, Fernando; LUCATO, Leandro Tavares; PARMERA, Jacy; DORIA, Denise; NOBREGA, Paulo Ribeiro; OLAVIO, Thiago Rosa; MACEDO-SOUZA, Lucia Ines; KOK, Fernando
- Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3(2022) NOBREGA, Paulo Ribeiro; CASTRO, Matheus Augusto Araujo; PAIVA, Anderson Rodrigues Brandao de; KOK, Fernando
- Parental germline mosaicism in SCN3A-related severe developmental disorder(2021) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; GUERRA-PEIXE, Matheus; PEDREIRA, Christiane Cobas; DELLA-RIPA, Bruno; DELGADO, Daniel Souza; MONTEIRO, Fabiola; KITAJIMA, Joao Paulo; GARZON, Eliana; KOK, Fernando
- Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome(2012) PESSOA, Andre Luiz Santos; MONTEIRO, Amanda do Vale; QUEIROZ, Rafael Fonseca de; MALVEIRA, George Linard; KOK, FernandoThe association of leukoencephalopathy with cerebral calcifications and cysts (LCC), Labrune syndrome is a rare disease, which was first described in 1996(1). LCC is derived from the syndrome called COATS plus or cerebroretinal microangiopathy with calcifications and brain cysts (CRMCC), reported in 1988. We report a case of an adult patient with LCC.
- Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1(2022) MELO, Eduardo Sousa de; PAIVA, Anderson Rodrigues Brandao de; AMORIM JR., Antonio Duarte de; CARVALHO JR., Jose Ronaldo Lima de; BEZERRA, Marcos Eugenio Ramalho; LINDEN, Vanessa van Der; LYNCH, David S.; KOK, Fernando
- Correspondence on ""A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes "" by Seaby et al(2022) RAMOS, Luiza Lorena Pires; KITAJIMA, Joao Paulo; COSTA, Larissa Sampaio de Athayde; MONTEIRO, Fabiola Paoli; KOK, Fernando