Search Results - "de Rezende Pinto, Wladimir Bocca Vieira"

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks by de Souza, Paulo Victor Sgobbi, de Rezende Pinto, Wladimir Bocca Vieira, de Rezende Batistella, Gabriel Novaes, Bortholin, Thiago, Oliveira, Acary Souza Bulle

“…Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary…”
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Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review by Pinto, Wladimir Bocca Vieira de Rezende, Souza, Paulo Victor Sgobbi de, Badia, Bruno Mattos Lombardi, Farias, Igor Braga, Albuquerque Filho, José Marcos Vieira de, Gonçalves, Eduardo Augusto, Machado, Roberta Ismael Lacerda, Oliveira, Acary Souza Bulle

“…Abstract Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice…”
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Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2 by 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.

“…Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. Pathological studies have demonstrated not only cerebellar and brainstem…”
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Paraneoplastic motor neuronopathy and malignant acanthosis nigricans by 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

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GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes by 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

“…Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous…”
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Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations by de Souza, Paulo Victor Sgobbi, Badia, Bruno de Mattos Lombardi, Farias, Igor Braga, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle

“…Acute hepatic porphyria represents a rare, underdiagnosed group of inherited metabolic disorders due to hereditary defects of heme group biosynthesis pathway…”
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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 by 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

“…Abstract Background VCP (valosin-containing protein gene) variants have been associated with peripheral and central neurodegenerative processes, including…”
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MR imaging of inherited myopathies: a review and proposal of imaging algorithms by 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

“…Purpose of review The aims of this review are to discuss the imaging modalities used to assess muscle changes in myopathies, to provide an overview of the…”
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Teaching NeuroImages: Slowly progressive hypertrophic brachial plexopathy due to SEPT9 mutation by Souza, Paulo Victor Sgobbi de, Gonçalves, Eduardo Augusto, Badia, Bruno de Mattos Lombardi, Farias, Igor Braga, Libardi Silva, Luiz Henrique, Yanagiura, Mario Teruo, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle

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New genetic causes for complex hereditary spastic paraplegia by 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

“…Abstract Introduction Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common…”
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Brazilian registry of patients with porphyria: REBRAPPO study by 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

“…Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for…”
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A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT by 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.

“…Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose‐1‐P uridylyltransferase (GALT), documented to encode low‐level residual GALT…”
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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment by 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

“…Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants…”
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Differential Diagnosis or Etiology: A Case Report on Amyotrophic Lateral Sclerosis-like Neuropathy Associated with HIV Infection by 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

“…Retroviruses are described as a risk factor for chronic neuropathy. However, it is still unknown if they can work as amyotrophic lateral sclerosis triggers…”
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Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity? by 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

“…Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms…”
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Tethered cord syndrome resembling Charcot-Marie-Tooth disease in closed spinal dysraphism by Souza, Paulo Victor Sgobbi de, Pedroso, José Luiz, Pinto, Wladimir Bocca Vieira de Rezende, Barsottini, Orlando G P, Oliveira, Acary Souza B

“…A 23-year-old man presented with progressive difficulty walking since childhood. Examination showed pes cavus, hammer toes, and peroneal atrophy (Figure 1)…”
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Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias by Pedroso, José Luiz, Sgobbi de Souza, Paulo Victor, de Rezende Pinto, Wladimir Bocca Vieira, Albuquerque, Marcus Vinicius Cristino, Barsottini, Orlando G P

“…We describe three patients with spinocerebellar ataxia (SCA) and marked eyelid retraction: A 33-year-old woman with ataxia, pyramidal signs and eyelid…”
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Segmental areas of denervation in post-polio syndrome by 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

“…A one-year-old male disclosed motor developmental delay, appendicular hypotonia, hyporeflexia, and weakness in the left lower limb. He started walking only at…”
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Acute hepatic porphyrias for the neurologist: current concepts and perspectives by 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

“…Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis…”
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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 by 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

“…Abstract The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and…”
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