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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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
The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients
Alves De Siqueira Carvalho, Alzira, Antônio Troccoli Chieia, Marco, Braga Farias, Igor, Bulle Oliveira, Acary Souza, Pinto, Wladimir Bocca Vieira De Rezende, Souza, Paulo Victor Sgobbi De
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2022)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2022)
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Journal Article
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies
Serrano, Paulo de Lima, Rodrigues, Thaiane de Paulo Varollo, Pinto, Leslyê Donato, Pereira, Indiara Correia, Farias, Igor Braga, Cavalheiro, Renan Brandão Rambaldi, Mendes, Patrícia Marques, Peixoto, Kaliny Oliveira, Barile, João Paulo, Seneor, Daniel Delgado, Correa Silva, Eduardo Gleitzmann, Oliveira, Acary Souza Bulle, Pinto, Wladimir Bocca Vieira de Rezende, Sgobbi, Paulo
Published in Current Issues in Molecular Biology (01.05.2024)
Published in Current Issues in Molecular Biology (01.05.2024)
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Journal Article
Neurofilament light chain as a biomarker for acute hepatic porphyrias
Sgobbi, Paulo, Serrano, Paulo de Lima, Badia, Bruno de Mattos Lombardi, Farias, Igor Braga, de Oliveira, Hélvia Bertoldo, Barbosa, Alana Strucker, Pereira, Camila Alves, Moreira, Vanessa de Freitas, Pinto, Ícaro França Navarro, Oliveira, Acary Souza Bulle, Pinto, Wladimir Bocca Vieira de Rezende
Published in Frontiers in neurology (18.04.2024)
Published in Frontiers in neurology (18.04.2024)
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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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Journal Article
Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges
Souza, Paulo Victor Sgobbi de, Serrano, Paulo de Lima, Farias, Igor Braga, Machado, Roberta Ismael Lacerda, Badia, Bruno de Mattos Lombardi, Oliveira, Hélvia Bertoldo de, Barbosa, Alana Strucker, Pereira, Camila Alves, Moreira, Vanessa de Freitas, Chieia, Marco Antônio Troccoli, Barbosa, Adriel Rêgo, Braga, Vinícius Lopes, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle
Published in Genes (28.02.2024)
Published in Genes (28.02.2024)
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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
Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy
Machado, Roberta Ismael Lacerda, Albuquerque, José Marcos Vieira de, Souza, Paulo Victor Sgobbi de, Aivazoglou, Laís Uyeda, Badia, Bruno de Mattos Lombardi, Ogata, Stéphanie Yuri Torres, Farias, Igor Braga, Aihara, André Yui, Fernandes, Artur da Rocha Corrêa, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle
Published in Arquivos de neuro-psiquiatria (01.05.2021)
Published in Arquivos de neuro-psiquiatria (01.05.2021)
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Journal Article
PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders
Sgobbi, Paulo, Farias, Igor Braga, Serrano, Paulo de Lima, Badia, Bruno de Mattos Lombardi, Oliveira, Hélvia Bertoldo de, Barbosa, Alana Strucker, Pereira, Camila Alves, Moreira, Vanessa de Freitas, Chieia, Marco Antônio Troccoli, Barbosa, Adriel Rêgo, Fraiman, Pedro Henrique Almeida, Braga, Vinícius Lopes, Machado, Roberta Ismael Lacerda, Calegaretti, Sophia Luiz, Fernandes, Isabela Danziato, Ribeiro, Roberta Correa, Orsini Neves, Marco Antonio, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle
Published in Muscles (19.01.2024)
Published in Muscles (19.01.2024)
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Journal Article
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
Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder
PINTO, Wladimir Bocca Vieira de Rezende, YANAGIURA, Mário Teruo, BADIA, Bruno de Mattos Lombardi, SILVA, Luiz Henrique Libardi, FARIAS, Igor Braga, SOUZA, Paulo Victor Sgobbi de, OLIVEIRA, Acary Souza Bulle
Published in Arquivos de neuro-psiquiatria (01.02.2020)
Published in Arquivos de neuro-psiquiatria (01.02.2020)
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Journal Article
A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy
Souza, Paulo Victor Sgobbi de, Silva, Luiz Henrique Libardi, Badia, Bruno de Mattos Lombardi, Farias, Igor Braga, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle
Published in Arquivos de neuro-psiquiatria (01.04.2019)
Published in Arquivos de neuro-psiquiatria (01.04.2019)
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Journal Article
Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND)
Pinto, Wladimir B V R, Farias, Igor Braga, Badia, Bruno de Mattos Lombardi, Libardi Silva, Luiz Henrique, Yanagiura, Mario Teruo, Chieia, Marco Antônio Troccoli, Souza, Paulo Victor Sgobbi de, Oliveira, Acary Souza Bulle
Published in Practical neurology (01.10.2019)
Published in Practical neurology (01.10.2019)
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Journal Article
Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia
Souza, Paulo Victor Sgobbi de, Badia, Bruno de Mattos Lombardi, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Silva, Luiz Henrique Libardi, Seneor, Daniel Delgado, Marin, Vitor Dias Gomes Barrios, Teixeira Júnior, Carlos Alberto Castro, Chieia, Marco Antônio Troccoli, Farias, Igor Braga
Published in Arquivos de neuro-psiquiatria (01.07.2019)
Published in Arquivos de neuro-psiquiatria (01.07.2019)
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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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Journal Article
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