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Paulo Victor Sgobbi de Souza

faculdade de medicina da universidade federal de sao paulo

21H指数
218论文数
1.6K被引数
收录论文 43
发表时间
Clinical and Genetic Features of MUSK-Related Congenital Myasthenic Syndrome: A Case Series and a Proposal for Clinical ClassificationMUSK相关先天性肌无力综合征的临床与遗传特征:一例病例系列及临床分类建议
err2026-09-22
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errAntonio Edvan Camelo-Filho; Henrique Alves Bezerra; Nicole Lopes Cavalcante Machado; Pedro Lucas Grangeiro Sá Barreto Lima; Pedro Braga-Neto; Eduardo de Paula Estephan; Paulo Victor Sgobbi; Maria Sheila Rocha; Cristiane Araujo Martins Moreno; Paulo Ribeiro Nóbrega
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Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint先天性多关节挛缩症:从神经肌肉角度的综合综述
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IF2.8
err2026-06-09
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errDaniel Delgado Seneor; João Paulo Barile; Patrícia Marques Mendes; Marco Orsini; Eduardo Mendonça Werneck da Silva; Igor Braga Farias; Paulo de Lima Serrano; Wladimir Bocca Vieira de Rezende Pinto; Acary Souza Bulle Oliveira; Paulo Victor Sgobbi de Souza
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Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study巴西5q型脊髓性肌萎缩症2型和3型患者的临床特征:一项横断面观察研究
err2026-05-08
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errElice Carneiro Batista; Edmar Zanoteli; Henrique Andrade R. Fonseca; Graziela Jorge Polido; Jonas Alex Morales Saute; Adriana Banzzatto Ortega; Marcondes Cavalcante França Junior; Acary Souza Bulle Oliveira; Paulo Victor Sgobbi de Souza; Juliana Gurgel Giannetti; André Luiz Santos Pessoa; Alexandra Prufer de Queiroz Campos Araújo; Mário Fritsch Toros Neves; Raquel Tavares Boy da Silva; Frederico Monfardini; Gustavo Prado dos Santos; Bruna dos Santos Sampaio; Diogo Fagundes Moia; Fernando Galan Júnior; Luciana Pereira Almeida de Piano; Camila Santos Nascimento de Albuquerque; Flávia Miranda Duarte; Viviane Aparecida Rodrigues Sant’Anna; Mariane Pereira; Jomenica de Bortoli Livramento; Ronaldo Vicente Pereira Soares; Denison Alves Pedrosa; Vanessa Teich; Luiz Vicente Rizzo; Otávio Berwanger; João Brainer Clares de Andrade; Gisele Sampaio Silva
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A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System
err2024-05-07
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errSouza, Paulo Victor Sgobbi; Haselkorn, Tmirah; Baima, Jader; Oliveira, Renato Watanabe; Hernandez, Fabian; Birck, Marina G.; Franca Jr, Marcondes C.
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COMET post hoc analysis: Efficacy of long-term avalglucosidase alfa in subgroups of participants with late-onset Pompe disease
err2024-02-01
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errToscano, Antonio; Kishnani, Priya; Dimachkie, Mazen M.; Sacconi, Sabrina; Van der Beek, Nadine; Roberts, Mark E.; Suwazono, Shugo; Choi, Young Chul; Sgobbi de Souza, Paulo Victor; Schoser, Benedikt; Armstrong, Nicole; Huynh-Ba, Olivier; Thibault, Nathan; Periquet, Magali; Diaz-Manera, Jordi
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Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy
err2023-04-18
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errSgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Dias, Renan Braido; de Rezende Batistella, Gabriel Novaes
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Teaching NeuroImages: Facial grimacing and sensorineural hearing loss in a woman with cirrhosis of the liver
err2023-04-18
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errSgobbi de Souza, Paulo Victor; Bortholin, Thiago; Vieira de Rezende Pinto, Wladimir Bocca; Oliveira, Acary Souza Bulle
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Teaching NeuroImages: MR neurography for the diagnosis of hypertrophic neuropathies
err2023-04-18
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errSgobbi de Souza, Paulo Victor; Bortholin, Thiago; Monteiro Naylor, Fernando George; Vieira de Rezende Pinto, Wladimir Bocca; Bulle Oliveira, Acary Souza
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Brazilian registry of patients with porphyria: REBRAPPO study
err2023-03-08
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errSouza, Paulo Victor Sgobbi; Afonso, Gliciane; Pinto, Wladimir Bocca Vieira de Rezende; Serrano, Paulo de Lima; Lombardi Badia, Bruno de Mattos; Farias, Igor Braga; Jorge, Ana Carolina dos Santos; Machado, Roberta Ismael Lacerda; Pinto, Icaro Franca Navarro; Barros, Glenda Barbosa; de Oliveira, Helvia Bertoldo; Calil, Samia Rogatis; Franz, Cibele; Oliveira, Acary Souza Bulle
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
err2022-07-27
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errSchiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocio Nur; Caballero-Avila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Sgobbi Souza, Paulo Victor; Tasca, Giorgio; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jimenez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong; Bevilacqua, Jorge Alfredo; Olive, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Dominguez-Gonzalez, Cristina; Papadimas, George K.; Warman, Jodi; Claeys, Kristl G.; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N.; Nair, Sruthi S.; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan; Garcia-Garcia, Jorge; Pal, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad; Diaz-Manera, Jordi
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DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
err2021-11-01
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errPinto, Wladimir Bocca Vieira de Rezende; Saloma, Rubens Paulo Araujo; Bergamsco, Nathlia Carbral; Ribas, Gustavo da Cunha; Graca, Felipe Franco da; Lopez-Cendes, Iscia; Bonadia, Luciana; Souza, Paulo Victor Sgobbi de; Oliveira, Acary Souza Bulle; Saraiva-Perira, Maria Luiza; Jardin, Laura Bannach; Tumas, Vitor; Marques Jr, Wilson; Franca Jr, Marcondes C.; Pedroso, Jose Luiz; Barsottini, Orlando G. P.; Teive, Helio A. G.
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Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations
err2021-09-27
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errSgobbi de Souza, Paulo Victor; Lombardi Badia, Bruno de Mattos; Farias, Igor Braga; Vieira de Rezende Pinto, Wladimir Bocca; Bulle Oliveira, Acary Souza
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Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
err2021-08-11
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errSgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Farias, Igor Braga; Lombardi Badia, Bruno de Mattos; Navarro Pinto, Icaro Franca; Costa, Gustavo Carvalho; Marin, Carolina Maria; dos Santos Jorge, Ana Carolina; Souto, Emilia Correia; Serrano, Paulo de Lima; Lacerda Machado, Roberta Ismael; Troccoli Chieia, Marco Antonio; Bertini, Enrico; Bulle Oliveira, Acary Souza
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Facial Onset Sensory and Motor Neuronopathy New Cases, Cognitive Changes, and Pathophysiology
err2021-04-01
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errde Boer, Eva M. J.; Barritt, Andrew W.; Elamin, Marwa; Anderson, Stuart J.; Broad, Rebecca; Nisbet, Angus; Goedee, H. Stephan; Costa, Juan F. Vazquez; Prudlo, Johannes; Vedeler, Christian A.; Fernandez, Julio Pardo; Panades, Monica Povedano; Aguilo, Maria A. Alberti; Dalla Bella, Eleonora; Lauria, Giuseppe; Pinto, Wladimir B. V. R.; de Souza, Paulo V. S.; Oliveira, Acary S. B.; Toro, Camilo; van Iersel, Joost; Parson, Malu; Harschnitz, Oliver; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar; Leigh, Peter N.; van Es, Michael A.
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Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
err2021-03-30
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errVieira de Rezende Pinto, Wladimir Bocca; Farias, Igor Braga; Lombardi Badia, Bruno de Mattos; de Albuquerque Filho, Jose Marcos Vieira; Lacerda Machado, Roberta Ismael; Sgobbi de Souza, Paulo Victor; Bulle Oliveira, Acary Souza
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
err2020-10-05
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errMendonca, Rodrigo de Holanda; Matsui Jr, Ciro; Polido, Graziela Jorge; Serafim Silva, Andre Macedo; Kulikowski, Leslie; Dias, Alexandre Torchio; Zanardo, Evelin Aline; Fontoura Solla, Davi Jorge; Gurgel-Giannetti, Juliana; Monteiro Lessa de Moura, Ana Carolina; Campolina Sampaio, Gabriela Palhares; Bulle Oliveira, Acary Souza; Sgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Goncalves, Eduardo Augusto; Farias, Igor Braga; Nardes, Flavia; de Queiroz Campos Araujo, Alexandra Prufer; Marques Jr, Wilson; Tomaselli, Pedro Jose; Ospedale Ribeiro, Mara Dell; Kitajima, Joao Paulo; Monteiro, Fabiola Paoli; Morales Saute, Jonas Alex; Becker, Michele Michelin; Saraiva-Pereira, Maria Luiza; Brusius-Facchin, Ana Carolina; van der Linden, Vanessa; Florencio, Rodrigo Neves; Soares Barbosa, Andre Vinicius; Machado-Costa, Marcela Camara; Santos Pessoa, Andre Luiz; Souza, Leticia Silva; Franca Jr, Marcondes Cavalcante; Kok, Fernando; Reed, Umbertina Conti; Zanoteli, Edmar
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Teaching NeuroImages: Slowly progressive hypertrophic brachial plexopathy due to SEPT9 mutation
err2020-07-07
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errSgobbi de Souza, Paulo Victor; Goncalves, Eduardo Augusto; Lombardi Badia, Bruno de Mattos; Farias, Igor Braga; Libardi Silva, Luiz Henrique; Yanagiura, Mario Teruo; Vieira de Rezende Pinto, Wladimir Bocca; Bulle Oliveira, Acary Souza
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Huntington's disease as an unexpected cause of deafness with dystonia and chorea亨廷顿氏病是引起肌张力障碍和舞蹈病的耳聋的意外原因
err2020-07-01
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errSgobbi de Souza, Paulo Victor; Pedroso, Jose Luiz; Vieira de Rezende Pinto, Wladimir Bocca; Povoas Barsottini, Orlando G.
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Teaching NeuroImages: Hopkins syndrome: A rare differential diagnosis of neurogenic monomelic amyotrophy
err2020-03-03
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errSgobbi de Souza, Paulo Victor; Lombardi Badia, Bruno de Mattos; Goncalves, Eduardo Augusto; Farias, Igor Braga; Libardi Silva, Luiz Henrique; Yanagiura, Mario Teruo; Vieira de Rezende Pinto, Wladimir Bocca; Bulle Oliveira, Acary Souza
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Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing全外显子组测序揭示线粒体DNA维持缺陷引起的Leigh综合征
err2019-11-01
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errSouza, P. V. S.; Bortholin, Thiago; Castro Teixeira, Carlos Alberto; Seneor, Daniel Delgado; Barrios Marin, Vitor Dias Gomes; Dias, Renan Braido; Farias, Igor Braga; Badia, B. M. L.; Libardi Silva, Luiz Henrique; Pinto, W. B. V. R.; Bulle Oliveira, Acary Souza; DiMauro, Salvatore
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