1
TITLE: PURA syndrome in a child with severe developmental delay: A challenging diagnosis [Síndrome PURA en una niña con retraso grave del desarrollo: Un diagnóstico desafiante]
AUTHORS: Nogueira, M; Melo, C ; Grangeia, A ; Magalhães, T; Soares, C; Dias, R; Fonseca, J ; Sampaio, M; Sousa, R;
PUBLISHED: 2022, SOURCE: Revista de Neurologia, VOLUME: 74, ISSUE: 5
INDEXED IN: Scopus CrossRef
2
TITLE: Cyclic seizures in lethal neonatal rigidity and multifocal seizure syndrome: expanding the phenotype of a rare entity
AUTHORS: Gorito, V; Rocha, H; Melo, C ; Fonseca, J ; Pinheiro, M; Ferreras, C; Leao, M; Sampaio, M; Alves, D; Sousa, R;
PUBLISHED: 2021, SOURCE: EPILEPTIC DISORDERS, VOLUME: 23, ISSUE: 5
INDEXED IN: Scopus WOS Unpaywall
3
TITLE: RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report
AUTHORS: Fonseca, J ; Melo, C ; Ferreira, C; Sampaio, M; Sousa, R; Leao, M;
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRIC GENETICS
INDEXED IN: WOS CrossRef Unpaywall
4
TITLE: Guillain-Barré Syndrome in a Teenage Girl: A Severe Case With Anti-GM2 Antibodies Associated With Acute CMV Infection and Literature Review
AUTHORS: Silva, CT; Silva, S; Silva, MJ; Almeida, AF; Fonseca, J ; Melo, C; Sampaio, M; Sousa, R;
PUBLISHED: 2019, SOURCE: Clinical Pediatrics
INDEXED IN: Scopus Unpaywall
5
TITLE: Posterior reversible encephalopathy syndrome: A case report
AUTHORS: Fonseca, J ; Oliveira, K; Cordeiro, M; Real, MV;
PUBLISHED: 2019, SOURCE: NEUROLOGIA, VOLUME: 34, ISSUE: 2
INDEXED IN: Scopus WOS
6
TITLE: Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies  Full Text
AUTHORS: Jorge, P; Garcia, E; Goncalves, A; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J ; Soares, G; Correia, C; Reis Lima, M; Cirigliano, V; Santos, R;
PUBLISHED: 2018, SOURCE: BMC MEDICAL GENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6 Unpaywall
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TITLE: Meningitis causada por el virus varicela-zóster en un niño inmunocompetente
AUTHORS: K. Oliveira; J. Fonseca ; D. Moreira; M. Vila Real;
PUBLISHED: 2018, SOURCE: Neurología, VOLUME: 33, ISSUE: 9
INDEXED IN: CrossRef: 1 Unpaywall