Search Results - "Lombardi, Bruno"

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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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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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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Comparison of knee muscular strength balance among pre- and post-puberty adolescent swimmers: a cross-sectional pilot study by Amado, Bruno Lombardi, Lira, Claudio A.B. de, Vancini, Rodrigo Luiz, Miguel Forte, Pedro, Costa, Taline, Weiss, Katja, Knechtle, Beat, Andrade, Marilia Santos

“…Muscular weakness and strength imbalance between the thigh muscles are considered risk factors for knee injuries. Hormonal changes, characteristic of puberty,…”
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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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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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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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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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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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Oral History and Memory in Geografy Science: The Case of Haitians Immigrants in Cascavel, PR, Brazil by Werlang, Mirtes Teresinha, Lombardi, Bruno Vinicius Noquelli, Vanderlinde, Tarcísio

“…This study highlights the importance of using oral history and memory in geographic research. These methodologies provide the opportunity to fully report the…”
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Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy by Machado, Roberta Ismael Lacerda, Alburquerque Filho, 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

“…A 7-year-old boy presented with non-progressive amyotrophy of the left lower limb since birth. Examination disclosed isolated amyotrophy of the left lower…”
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Adult-onset cerebral X-linked adrenoleukodystrophy presenting as obsessive-compulsive disorder by 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

“…Pinto et al discuss the case study of a 35-year-old man with a five-year history of obsessive-compulsive disorder with excessive hand washing. Maternal family…”
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A complex association of cardiomyopathy, mild dysmorphisms and leukoencephalopathy by 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

“…A 44-year-old woman presented with a 15-year history of ataxic gait. Medical history disclosed global developmental delay and supravalvular aortic stenosis and…”
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Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) by 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

“…Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones,…”
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Pseudoxanthoma elasticum presenting as akinetic-rigid parkinsonism and dementia by 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

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Leukodystrophy with disorders of sex development due to WT1 mutations by Souza, Paulo Victor Sgobbi, Badia, Bruno Mattos Lombardi, Silva, Luiz Henrique Libardi, Teixeira, Carlos Alberto Castro, Seneor, Daniel Delgado, Marin, Vitor Dias Gomes Barrios, Farias, Igor Braga, Dias, Renan Braido, Oliveira, Acary Souza Bulle, Pinto, Wladimir Bocca Vieira Rezende

“…Hypomyelinating leukodystrophies represent an expanding group of neurogenetic disorders characterized primarily by central nervous system hypomyelination and…”
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Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy by Pinto, Wladimir Bocca Vieira de Rezende, Farias, Igor Braga, Badia, Bruno de Mattos Lombardi, Vieira de Albuquerque Filho, José Marcos, Machado, Roberta Ismael Lacerda, Souza, Paulo Victor Sgobbi de, Oliveira, Acary Souza Bulle

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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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Teaching NeuroImages: Hopkins syndrome: A rare differential diagnosis of neurogenic monomelic amyotrophy by Souza, Paulo Victor Sgobbi de, Badia, Bruno de Mattos Lombardi, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Libardi Silva, Luiz Henrique, Yanagiura, Mario Teruo, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle

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