The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David
Published in Brain (London, England : 1878) (01.06.2019)
Published in Brain (London, England : 1878) (01.06.2019)
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Journal Article
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen
de Holanda Mendonça, Rodrigo, Jorge Polido, Graziela, Ciro, Matsui, Jorge Fontoura Solla, Davi, Conti Reed, Umbertina, Zanoteli, Edmar
Published in Journal of neuromuscular diseases (01.01.2021)
Published in Journal of neuromuscular diseases (01.01.2021)
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Journal Article
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
Abath Neto, Osorio, Martins, Cristiane de Araújo, Carvalho, Mary, Chadi, Gerson, Seitz, Katia Werneck, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Laporte, Jocelyn, Zanoteli, Edmar
Published in Genetics and molecular biology (01.06.2015)
Published in Genetics and molecular biology (01.06.2015)
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Journal Article
Sequential motor task (Luria's Fist-Edge-Palm Test) in children with benign focal epilepsy of childhood with centrotemporal spikes
Miziara, Carmen Silvia Molleis Galego, Manreza, Maria Luiza Giraldes de, Mansur, Letícia, Reed, Umbertina Conti, Buchpiguel, Carlos Alberto
Published in Arquivos de neuro-psiquiatria (01.06.2013)
Published in Arquivos de neuro-psiquiatria (01.06.2013)
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Journal Article
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O'Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma
Published in Brain (London, England : 1878) (01.12.2018)
Published in Brain (London, England : 1878) (01.12.2018)
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Journal Article
Cross-sectional survey study of the natural history of LAMA2-related dystrophy
Camelo, Clara Gontijo, Artilheiro, Mariana Cunha, Fernandes, Tatiana Ribeiro, Moreno, Cristiane de Araújo Martins, Fonseca, Alulin Tácio Quadros Santos Monteiro, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Clinical neurology and neurosurgery (01.10.2024)
Published in Clinical neurology and neurosurgery (01.10.2024)
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Journal Article
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
Silva, André Macedo Serafim, Rodrigo, Patricia, Moreno, Cristiane Araújo Martins, Mendonça, Rodrigo de Holanda, Estephan, Eduardo de Paula, Camelo, Clara Gontijo, Campos, Eliene Dutra, Dias, Alexandre Torchio, Nascimento, Amom Mendes, Kulikowski, Leslie Domenici, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Goldfarb, Lev G, Olivé, Montse, Zanoteli, Edmar
Published in Journal of neuropathology and experimental neurology (01.09.2022)
Published in Journal of neuropathology and experimental neurology (01.09.2022)
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Journal Article
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil
Estephan, Eduardo de Paula, Zambon, Antonio Alberto, Marchiori, Paulo Eurípedes, da Silva, André Macedo Serafim, Caldas, Vitor Marques, Moreno, Cristiane Araújo Martins, Reed, Umbertina Conti, Horvath, Rita, Töpf, Ana, Lochmüller, Hanns, Zanoteli, Edmar
Published in Neuromuscular disorders : NMD (01.11.2018)
Published in Neuromuscular disorders : NMD (01.11.2018)
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Journal Article
Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement
Dabaj, Ivana, Carlier, Robert Y, Gómez‐Andrés, David, Neto, Osório Abath, Bertini, Enrico, D'amico, Adele, Fattori, Fabiana, PéRéon, Yann, Castiglioni, Claudia, Rodillo, Eliana, Catteruccia, Michela, Guimarães, júlio Brandão, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean‐François, Malfatti, Edoardo, Bonnemann, Carsten, Laporte, Jocelyn, Romero, Norma, Felter, Adrien, Quijano‐Roy, Susana, Moreno, Cristiane Araújo Martins, Zanoteli, Edmar
Published in Muscle & nerve (01.08.2018)
Published in Muscle & nerve (01.08.2018)
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Journal Article
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Estephan, Eduardo de Paula, Sobreira, Cláudia Ferreira da Rosa, dos Santos, André Clériston José, Tomaselli, Pedro José, Marques, Wilson, Ortega, Roberta Paiva Magalhães, Costa, Marcela Câmara Machado, da Silva, André Macedo Serafim, Mendonça, Rodrigo Holanda, Caldas, Vitor Marques, Zambon, Antonio Alberto, Abath Neto, Osório, Marchiori, Paulo Eurípedes, Heise, Carlos Otto, Reed, Umbertina Conti, Azuma, Yoshiteru, Töpf, Ana, Lochmüller, Hanns, Zanoteli, Edmar
Published in Journal of neurology (01.03.2018)
Published in Journal of neurology (01.03.2018)
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Journal Article
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
Zanoteli, Edmar, Soares, Priscilla Souza, Silva, André Macedo Serafim da, Camelo, Clara Gontijo, Fonseca, Alulin Tácio Quadros Santos Monteiro, Albuquerque, Marco Antônio Veloso, Moreno, Cristiane Araújo Martins, Lopes Abath Neto, Osório, Novo Filho, Gil Monteiro, Kulikowski, Leslie Domenici, Reed, Umbertina Conti
Published in Clinical neurology and neurosurgery (01.05.2020)
Published in Clinical neurology and neurosurgery (01.05.2020)
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Journal Article
Cognitive performance of children with spinal muscular atrophy: A systematic review
Polido, Graziela Jorge, de Miranda, Mariana Mangini Vaz, Carvas, Nelson, Mendonça, Rodrigo de Holanda, Caromano, Fátima Aparecida, Reed, Umbertina Conti, Zanoteli, Edmar, Voos, Mariana Callil
Published in Dementia & neuropsychologia (01.12.2019)
Published in Dementia & neuropsychologia (01.12.2019)
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Journal Article
Centenary of the birth of Professor Antonio Branco Lefèvre (1916-1981)
Marques-Dias, Maria Joaquina, Reed, Umbertina Conti
Published in Arquivos de neuro-psiquiatria (01.12.2016)
Published in Arquivos de neuro-psiquiatria (01.12.2016)
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Journal Article
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation
Camelo, Clara Gontijo, Artilheiro, Mariana Cunha, Martins Moreno, Cristiane Araújo, Ferraciolli, Suely Fazio, Serafim Silva, André Macedo, Fernandes, Tatiana Ribeiro, Lucato, Leandro Tavares, Rocha, Antônio José, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
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Journal Article
Severe progressive brain involvement in a patient with TRMT10C mutation
CAMELO, Clara Gontijo, SILVA, André Macedo Serafim, ROCHA, Antônio José, SCARAMUZZI, Vinicius, MORENO, Cristiane de Araújo Martins, REED, Umbertina Conti, ZANOTELI, Edmar
Published in Arquivos de neuro-psiquiatria (01.03.2021)
Published in Arquivos de neuro-psiquiatria (01.03.2021)
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Journal Article
Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery
Mendonça, Rodrigo de Holanda, Fernandes, Hermann Dos Santos, Pinto, Rafael Barbéro Schimmelpfeng, Matsui Júnior, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim da, Grossklauss, Luis Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Arquivos de neuro-psiquiatria (01.02.2021)
Published in Arquivos de neuro-psiquiatria (01.02.2021)
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Journal Article
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
Abath Neto, Osorio, Silva, Marina Rodrigues e, Martins, Cristiane de Araújo, Oliveira, Acary de Souza Bulle, Reed, Umbertina Conti, Biancalana, Valérie, Pesquero, João Bosco, Laporte, Jocelyn, Zanoteli, Edmar
Published in Pediatric neurology (01.05.2016)
Published in Pediatric neurology (01.05.2016)
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Journal Article
Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy
Marques, Tanyse Bahia Carvalho, Neves, Juliana de Carvalho, Portes, Leslie Andrews, Salge, João Marcos, Zanoteli, Edmar, Reed, Umbertina Conti
Published in Jornal brasileiro de pneumologia (01.10.2014)
Published in Jornal brasileiro de pneumologia (01.10.2014)
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Journal Article
Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD
REZENDE, Angelo R. T., PACHECO, Sandra P., BRANCO, Sulamy C. C., FERNANDES, Rosangela D. C., BOLDRINI, Carla R., DORIA, Ulysses, BAZÁN, Paulo R., AMARO, Edson, REED, Umbertina Conti, CASELLA, Erasmo Barbante
Published in Arquivos de neuro-psiquiatria (01.04.2020)
Published in Arquivos de neuro-psiquiatria (01.04.2020)
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