Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
de Souza, Paulo Victor Sgobbi, de Rezende Pinto, Wladimir Bocca Vieira, de Rezende Batistella, Gabriel Novaes, Bortholin, Thiago, Oliveira, Acary Souza Bulle
Published in Cerebellum (London, England) (01.04.2017)
Published in Cerebellum (London, England) (01.04.2017)
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Book Review
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Katler, Quinton S., Stepien, Karolina M., Paull, Nathan, Patel, Sneh, Adams, Michael, Balci, Mehmet Cihan, Berry, Gerard T., Bosch, Annet M., DeLaO, Angela, Demirbas, Didem, Edman, Julianna, Ficicioglu, Can, Goff, Melanie, Hacker, Stephanie, Knerr, Ina, Lancaster, Kristen, Li, Hong, Mendelsohn, Bryce A., Nichols, Brandi, Rezende Pinto, Wladimir Bocca Vieira, Rocha, Júlio César, Rubio‐Gozalbo, M. Estela, Saad‐Naguib, Michael, Scholl‐Buergi, Sabine, Searcy, Sarah, Souza, Paulo Victor Sgobbi, Wittenauer, Angela, Fridovich‐Keil, Judith L.
Published in Journal of inherited metabolic disease (01.11.2022)
Published in Journal of inherited metabolic disease (01.11.2022)
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GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
Souza, Paulo Victor Sgobbi, Badia, Bruno Mattos Lombardi, Farias, Igor Braga, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Akman, Hasan Orhan, DiMauro, Salvatore
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations
de Souza, Paulo Victor Sgobbi, Badia, Bruno de Mattos Lombardi, Farias, Igor Braga, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle
Published in Frontiers in neuroscience (27.09.2021)
Published in Frontiers in neuroscience (27.09.2021)
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One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia
Abrahao, Agessandro, de Rezende, Wladimir Bocca Vieira, Pinto, Neto, Osório Abath, Zanoteli, Edmar, Santos, Bibiana, Kok, Fernando, Barsottini, Orlando Graziani Povoas, Oliveira, Acary Souza Bulle, Pedroso, José Luiz
Published in Journal of the neurological sciences (15.09.2016)
Published in Journal of the neurological sciences (15.09.2016)
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MR imaging of inherited myopathies: a review and proposal of imaging algorithms
Aivazoglou, Laís Uyeda, Guimarães, Julio Brandão, Link, Thomas M., Costa, Maria Alice Freitas, Cardoso, Fabiano Nassar, de Mattos Lombardi Badia, Bruno, Farias, Igor Braga, de Rezende Pinto, Wladimir Bocca Vieira, de Souza, Paulo Victor Sgobbi, Oliveira, Acary Souza Bulle, de Siqueira Carvalho, Alzira Alves, Aihara, André Yui, da Rocha Corrêa Fernandes, Artur
Published in European radiology (01.11.2021)
Published in European radiology (01.11.2021)
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Journal Article
New genetic causes for complex hereditary spastic paraplegia
de Souza, Paulo Victor Sgobbi, Bortholin, Thiago, Dias, Renan Braido, Chieia, Marco Antônio Troccoli, Burlin, Stênio, Naylor, Fernando George Monteiro, de Rezende Pinto, Wladimir Bocca Vieira, Oliveira, Acary Souza Bulle
Published in Journal of the neurological sciences (15.08.2017)
Published in Journal of the neurological sciences (15.08.2017)
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Journal Article
Brazilian registry of patients with porphyria: REBRAPPO study
Souza, Paulo Victor Sgobbi, Afonso, Gliciane, de Rezende Pinto, Wladimir Bocca Vieira, de Lima Serrano, Paulo, de Mattos Lombardi Badia, Bruno, Farias, Igor Braga, Dos Santos Jorge, Ana Carolina, Machado, Roberta Ismael Lacerda, Pinto, Icaro França Navarro, Barros, Glenda Barbosa, de Oliveira, Helvia Bertoldo, Calil, Samia Rogatis, Franz, Cibele, Oliveira, Acary Souza Bulle
Published in Orphanet journal of rare diseases (08.03.2023)
Published in Orphanet journal of rare diseases (08.03.2023)
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Journal Article
Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia
Jaques, Cristina Saade, Pedroso, José Luiz, Rocha, Antônio José da, Pinto, Wladimir Bocca Vieira de Resende, Oliveira, Acary Souza Bulle, Barsottini, Orlando G. P.
Published in Arquivos de neuro-psiquiatria (01.09.2021)
Published in Arquivos de neuro-psiquiatria (01.09.2021)
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Journal Article
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
Pinto, Wladimir Bocca Vieira de Rezende, Souza, Paulo Victor Sgobbi de, Badia, Bruno Mattos Lombardi, Farias, Igor Braga, Albuquerque, José Marcos Vieira de, Gonçalves, Eduardo Augusto, Machado, Roberta Ismael Lacerda, Oliveira, Acary Souza Bulle
Published in Arquivos de neuro-psiquiatria (01.10.2021)
Published in Arquivos de neuro-psiquiatria (01.10.2021)
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Journal Article
Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2
Pedroso, José Luiz, Braga-Neto, Pedro, Escorcio-Bezerra, Marcio Luiz, Abrahão, Agessandro, de Albuquerque, Marcus Vinicius Cristino, Filho, Flavio Moura Rezende, de Souza, Paulo Victor Sgobbi, de Rezende Pinto, Wladimir Bocca Vieira, Borges, Franklin Roberto Pereira, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Barsottini, Orlando G. P.
Published in Cerebellum (London, England) (01.02.2017)
Published in Cerebellum (London, England) (01.02.2017)
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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
Nóbrega, Paulo Ribeiro, Bernardes, Anderson Moura, Ribeiro, Rodrigo Mariano, Vasconcelos, Sophia Costa, Araújo, David Augusto Batista Sá, Gama, Vitor Carneiro de Vasconcelos, Fussiger, Helena, Santos, Carolina de Figueiredo, Dias, Daniel Aguiar, Pessoa, André Luíz Santos, Pinto, Wladimir Bocca Vieira de Rezende, Saute, Jonas Alex Morales, de Souza, Paulo Victor Sgobbi, Braga-Neto, Pedro
Published in Frontiers in neurology (23.12.2022)
Published in Frontiers in neurology (23.12.2022)
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Journal Article
Differential Diagnosis or Etiology: A Case Report on Amyotrophic Lateral Sclerosis-like Neuropathy Associated with HIV Infection
Rodrigues, Renato Barradas, Orsini, Marco, Neves, Sofia Vieira, de Rezende Pinto, Wladimir Bocca Vieira, da Silva Catarino, Antônio Marcos, Pereira, Daniel Antunes, Oliveira, Acary Souza Bulle
Published in Current HIV research (01.01.2023)
Published in Current HIV research (01.01.2023)
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Journal Article
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Farias, Igor Braga, Badia, Bruno de Mattos Lombardi, Pinto, Icaro França Navarro, Costa, Gustavo Carvalho, Marin, Carolina Maria, Dos Santos Jorge, Ana Carolina, Souto, Emília Correia, Serrano, Paulo de Lima, Machado, Roberta Ismael Lacerda, Chieia, Marco Antônio Troccoli, Bertini, Enrico, Oliveira, Acary Souza Bulle
Published in Orphanet journal of rare diseases (11.08.2021)
Published in Orphanet journal of rare diseases (11.08.2021)
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Journal Article
Segmental areas of denervation in post-polio syndrome
Braga, Vinícius Lopes, Moreira, Heloísa Lopes Cohim, Fraiman, Pedro Henrique Almeida, Sarmento, Filipe Pereira, Farias, Igor Braga, Serrano, Paulo de Lima, Badia, Bruno de Mattos Lombardi, Chieia, Marco Antônio Troccoli, Pinto, Wladimir Bocca Vieira de Rezende, Souza, Paulo Victor Sgobbi de, Oliveira, Acary Souza Bulle
Published in Arquivos de neuro-psiquiatria (01.02.2024)
Published in Arquivos de neuro-psiquiatria (01.02.2024)
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Journal Article
Acute hepatic porphyrias for the neurologist: current concepts and perspectives
Souza, Paulo Victor Sgobbi de, Badia, Bruno de Mattos Lombardi, Farias, Igor Braga, Gonçalves, Eduardo Augusto, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle
Published in Arquivos de neuro-psiquiatria (01.01.2021)
Published in Arquivos de neuro-psiquiatria (01.01.2021)
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Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology
Gondim, Francisco de Assis Aquino, Pinto, Wladimir Bocca Vieira de Rezende, Chieia, Marco Antônio Troccoli, Correia, Carolina da Cunha, Cunha, Francisco Marcos Bezerra, Dourado Jr, Mário Emílio Teixeira, França Júnior, Marcondes Cavalcante, Marques Júnior, Wilson, Oliveira, Acary Souza Bulle, Rodrigues, Cleonisio Leite, Silva, Delson José da, Dias-Tosta, Elza
Published in Arquivos de neuro-psiquiatria (01.08.2023)
Published in Arquivos de neuro-psiquiatria (01.08.2023)
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PRKAG2 Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism?
Orsini, Marco, Pinto, Wladimir Bocca Vieira de Rezende, Sgobbi, Paulo, Oliveira, Acary Souza Bulle
Published in Muscles (25.07.2024)
Published in Muscles (25.07.2024)
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Paraneoplastic motor neuronopathy and malignant acanthosis nigricans
Pinto, Wladimir Bocca Vieira de Rezende, Badia, Bruno de Mattos Lombardi, Souza, Paulo Victor Sgobbi de, Oliveira, Acary Souza Bulle, Silva, Luiz Henrique Libardi, Farias, Igor Braga
Published in Arquivos de neuro-psiquiatria (29.07.2019)
Published in Arquivos de neuro-psiquiatria (29.07.2019)
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Journal Article
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Pinto, Wladimir Bocca Vieira de Rezende, Farias, Igor Braga, Badia, Bruno de Mattos Lombardi, Vieira de Albuquerque Filho, José Marcos, Machado, Roberta Ismael Lacerda, de Souza, Paulo Victor Sgobbi, Oliveira, Acary Souza Bulle
Published in Neurology (30.03.2021)
Published in Neurology (30.03.2021)
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