Inflammatory myopathies: an update for neurologists
Silva, André Macedo Serafim, Campos, Eliene Dutra, Zanoteli, Edmar
Published in Arquivos de neuro-psiquiatria (01.05.2022)
Published in Arquivos de neuro-psiquiatria (01.05.2022)
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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
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
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
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant
Leoni, Tauana Bernardes, González‐Salazar, Carelis, Rezende, Thiago Junqueira R., Hernández, Ana Luisa C., Mattos, Alexandre Hilário B., Coimbra Neto, Antônio Rodrigues, Graça, Felipe Franco, Gonçalves, João Pedro Nunes, Martinez, Alberto R.M., Taniguti, Lucas, Kitajima, João Paulo, Kok, Fernando, Rogério, Fábio, Silva, André Macedo Serafim, Oliveira, Alexandre Leite Rodrigues, Zanoteli, Edmar, Nucci, Anamarli, França, Marcondes C.
Published in Annals of neurology (01.08.2021)
Published in Annals of neurology (01.08.2021)
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Journal Article
Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology
Cavalcante, Wagner Cid Palmeira, da Silva, André Macedo Serafim, Mendonça, Rodrigo de Holanda, Moreno, Cristiane de Araújo Martins, Proença, Bruna Moreira de Souza, Guimarães, Júlio Brandão, Ormond Filho, Alípio Gomes, Zanoteli, Edmar
Published in Frontiers in neurology (23.04.2024)
Published in Frontiers in neurology (23.04.2024)
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Journal Article
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia
Caldas, Vitor Marques, Heise, Carlos Otto, Kouyoumdjian, João Aris, Zambon, Antônio Alberto, Silva, André Macedo Serafim, Estephan, Eduardo de Paula, Zanoteli, Edmar
Published in Neuromuscular disorders : NMD (01.11.2020)
Published in Neuromuscular disorders : NMD (01.11.2020)
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Journal Article
Hypoglycemia in Patients With LAMA2-CMD
Camelo, Clara Gontijo, Martins Moreno, Cristiane de Araújo, Artilheiro, Mariana Cunha, Serafim Silva, André Macedo, Quadros Monteiro Fonseca, Alulin Tácio, Mendonça de Holanda, Rodrigo, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Pediatric neurology (01.06.2023)
Published in Pediatric neurology (01.06.2023)
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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
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
Estephan, Eduardo de Paula, Moreno, Cristiane Araújo Martins, Silva, André Macedo Serafim da, Mendonça, Rodrigo de Holanda, Abath Neto, Osório, Nishimura, Patrícia Yoshi, Galindo, Layla Testa, Zanoteli, Edmar
Published in Arquivos de neuro-psiquiatria (01.01.2017)
Published in Arquivos de neuro-psiquiatria (01.01.2017)
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Journal Article
Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis
Grativvol, Ronnyson Susano, Silva, André Macedo Serafim da, Guedes, Bruno Fukelmann, Estephan, Eduardo de Paula, Mendonça, Rodrigo de Holanda, Zambon, Antônio Alberto, Heise, Carlos Otto, Zanoteli, Edmar
Published in Arquivos de neuro-psiquiatria (01.03.2017)
Published in Arquivos de neuro-psiquiatria (01.03.2017)
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Journal Article
Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy
Silva, André Macedo Serafim da, Cavalcante, Wagner Cid Palmeira, Camelo, Clara Gontijo, Mendonça, Rodrigo de Holanda, Fortini, Ida, Carvalho, Mary Souza de, Zanoteli, Edmar
Published in Arquivos de neuro-psiquiatria (01.02.2019)
Published in Arquivos de neuro-psiquiatria (01.02.2019)
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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
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
Facial myokymia in inherited peripheral nerve hyperexcitability syndrome
Camelo, Clara Gontijo, Silva, André Macedo Serafim, Moreno, Cristiane Araújo Martins, Matsui-Júnior, Ciro, Heise, Carlos Otto, Pedroso, José Luiz, Zanoteli, Edmar
Published in Practical neurology (01.05.2020)
Published in Practical neurology (01.05.2020)
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Journal Article
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-Ávila, Marta, Chou, Tsui-Fen, Li, Shan, Wang, Feng, Daw, Jil, Stojkovic, Tanya, Villar-Quiles, Rocio, Nishino, Ichizo, Inoue, Michio, Nishimori, Yukako, Saito, Yoshihiko, Katsuno, Masahisa, Noda, Seiya, Ito, Chihiro, Otsuka, Mieko, Nahir, Sruthi, Manousakis, Georgios, Walk, David, Quinn, Colin, Alfano, Lindsay, Sahenk, Zarife, Tasca, Giorgio, Monforte, Mauro, Sabatelli, Mario, Bisogni, Giulia, Oldfors, Anders, Rydeliu, Anna, Pal, Endre, Paradas, Carmen, Velez, Beatriz, De Bleecker, Jan L, Farugia, Maria Elena, Longman, Cheryl, Harms, Matthew B, Ralston, Stuart, Zanoteli, Edmar, Macedo Serafim da Silva, Andre, Sotoca, Javier, Juntas-Morales, Raul, Bevilacqua, Jorge, Balart, Mireya, Talbot, Stuart, Straub, Volker, Guglieri, Michela, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Weihl, Conrad Chris
Published in Neurology. Genetics (01.10.2023)
Published in Neurology. Genetics (01.10.2023)
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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
Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy
Moreira, Ana Lucila, Mendonça, Rodrigo Holanda, Polido, Graziela Jorge, Oliveira, Marcos Castello Barbosa, Silva, André Macedo Serafim, Zanoteli, Edmar
Published in Ultrasound in medicine & biology (01.07.2023)
Published in Ultrasound in medicine & biology (01.07.2023)
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Journal Article