Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, Valle, Daniel Almeida do, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
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Journal Article
Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
Valle, Daniel Almeida do, Santos, Mara Lúcia Schmitz Ferreira, Telles, Bruno Augusto, Cordeiro, Mara L.
Published in Frontiers in neurology (17.11.2022)
Published in Frontiers in neurology (17.11.2022)
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Journal Article
Brazilian consensus recommendations on the diagnosis and treatment of autoimmune encephalitis in the adult and pediatric populations
Dutra, Lívia Almeida, Silva, Pedro Victor de Castro, Ferreira, João Henrique Fregadolli, Marques, Alexandre Coelho, Toso, Fabio Fieni, Vasconcelos, Claudia Cristina Ferreira, Brum, Doralina Guimarães, Pereira, Samira Luisa Dos Apóstolos, Adoni, Tarso, Rocha, Leticia Januzi de Almeida, Sampaio, Leticia Pereira de Brito, Sousa, Nise Alessandra de Carvalho, Paolilo, Renata Barbosa, Pizzol, Angélica Dal, Costa, Bruna Klein da, Disserol, Caio César Diniz, Pupe, Camila, Valle, Daniel Almeida do, Diniz, Denise Sisterolli, Abrantes, Fabiano Ferreira de, Schmidt, Felipe da Rocha, Cendes, Fernando, Oliveira, Francisco Tomaz Meneses de, Martins, Gabriela Joca, Silva, Guilherme Diogo, Lin, Katia, Pinto, Lécio Figueira, Santos, Mara Lúcia Schimtz Ferreira, Gonçalves, Marcus Vinícius Magno, Krueger, Mariana Braatz, Haziot, Michel Elyas Jung, Barsottini, Orlando Graziani Povoas, Nascimento, Osvaldo José Moreira do, Nóbrega, Paulo Ribeiro, Proveti, Priscilla Mara, Castilhos, Raphael Machado do, Daccach, Vanessa, Glehn, Felipe von
Published in Arquivos de neuro-psiquiatria (01.07.2024)
Published in Arquivos de neuro-psiquiatria (01.07.2024)
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Journal Article
MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
Irigonhê, Alan Tibério Dalpiaz, Moreira, Angélica Malman Thomazine, Valle, Daniel Almeida do, Santos, Mara Lúcia Schmitz Ferreira
Published in Revista Paulista de Pediatria (01.01.2021)
Published in Revista Paulista de Pediatria (01.01.2021)
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Journal Article
Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America
Zeny, Michelle Silva, do Valle, Daniel Almeida, Santos, Mara Lúcia Schmitz Ferreira, Bara, Tiago S., Cordeiro, Mara L.
Published in Pediatric neurology (01.05.2024)
Published in Pediatric neurology (01.05.2024)
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Journal Article
Neurodevelopmental disorder associated with gene ARF3: A case report
Santos Henrique, Suelen, França, Mariana Jordão, Silva Junior, Rui Carlos, Santos, Mara Lúcia Schmitz Ferreira, Valle, Daniel Almeida
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
BRPF1‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development
Souza, Josiane, Valle, Daniel Almeida, Santos, Mara Lucia Schmidt Ferreira, Colomé, Fernanda Bonilla, Teive, Helio Afonso Ghizoni, da Silva Freitas, Renato, Herai, Roberto Hirochi
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy
Pinto, Gustavo Moura da Mata Machado Ferreira, Fidalski, Solena Ziemer Kusma, Santos, Mara Lúcia Schmidt Ferreira, de Souza, Josiane, do Valle, Daniel Almeida
Published in Epileptic disorders (01.10.2023)
Published in Epileptic disorders (01.10.2023)
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Journal Article
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
Josahkian, Juliana Alves, Brusius‐Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Leistner‐Segal, Sandra, Málaga, Diana Rojas, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele Barbosa, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Erlane Marques, Kim, Chong Ae, Siqueira, Ana Cecília Menezes, Santos, Mara Lucia, Valle, Daniel Almeida, Silva, Raquel Tavares Boy, Horovitz, Dafne Dain Gandelman, Medeiros, Paula Frassinetti Vasconcelos, Souza, Carolina Fischinger Moura, Giuliani, Liane de Rosso, Miguel, Diego Santana Chaves Geraldo, Santana‐da‐Silva, Luiz Carlos, Galera, Marcial Francis, Giugliani, Roberto
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Journal Article
Carbamazepine-responsive chorea in a toddler with semilobar holoprosencephaly: Case report
Oliveira, Leonardo, Silveira, Izabela, Silva, Thiago, Valle, Daniel
Published in Journal of pediatric neurosciences (01.10.2021)
Published in Journal of pediatric neurosciences (01.10.2021)
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Journal Article
Clinical variability of children with anti-N-methyl-d-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature
do Valle, Daniel Almeida, Galeazzi, Joselainy Stela Pires, Machado, Mayara de Rezende, dos Santos, Vanessa Catarine Silva Abreu Ribeiro, da Silva, Alcir Francisco, Lohr Júnior, Alfredo, Santos, Mara Lúcia Schmitz Ferreira, Scola, Rosana Herminia
Published in Neurological sciences (01.02.2019)
Published in Neurological sciences (01.02.2019)
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Journal Article
The role of human adenoviruses type 41 in acute diarrheal disease in Minas Gerais after rotavirus vaccination
Reis, Thaís Aparecida Vieira, Assis, Andrêssa Silvino Ferreira, do Valle, Daniel Almeida, Barletta, Vívian Honorato, de Carvalho, Iná Pires, Rose, Tatiana Lundgren, Portes, Silvana Augusta Rodrigues, Leite, José Paulo Gagliardi, da Rosa e Silva, Maria Luzia
Published in Brazilian journal of microbiology (01.01.2016)
Published in Brazilian journal of microbiology (01.01.2016)
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Journal Article
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil
Santos, Berkmis Viana, de Souza, Josiane, Zeny, Michelle Silva, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida
Published in Neuropediatrics (01.10.2024)
Published in Neuropediatrics (01.10.2024)
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Journal Article
Characteristics and Risk Factors of Central Nervous System Infection in Children With Febrile Seizures
do Valle, Daniel Almeida, Costa, Luisa Carolina Vinhal, Fregonese, Amanda Perin, da Silva, Dannyelle Heloize Leite, Maldonado, Giovana Kellen Souza, da Silva, Letícia Tozzini Tavares, Couto, Mylena da Silva
Published in Pediatric emergency care (01.06.2024)
Published in Pediatric emergency care (01.06.2024)
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Journal Article
Stroke-like encephalopathy following high-dose intravenous methotrexate in an adolescent with osteosarcoma: a case report
Valle, Daniel Almeida do, Kakehasi, Fabiana Maria, Melo, Roberta Maria Pereira Albuquerque de, Siqueira, Claudia Machado, Soares, Thaiane Ferreira, Rodrigues, Karla Emilia de Sá
Published in Revista brasileira de hematologia e hemoterapia (01.10.2016)
Published in Revista brasileira de hematologia e hemoterapia (01.10.2016)
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