Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Marcondes Cavalcante França Junior"'
Autor:
Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F. Lemos, Fernanda B. Pasetto, Carolina S. Brasil, Franciele B. Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L. S. Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R. Bittar, Cristina Wang, Janaina M. Lana, Marcondes Cavalcante França Junior, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023)
Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels s
Externí odkaz:
https://doaj.org/article/bb63942c602844df9fba620e64c78881
Autor:
Thiago Yoshinaga Tonholo SILVA, José Luiz PEDROSO, Marcondes Cavalcante FRANÇA JUNIOR, Orlando Graziani Povoas BARSOTTINI
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 79, Iss 10, Pp 929-932 (2021)
ABSTRACT Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era. The term Neurogenetics came to int
Externí odkaz:
https://doaj.org/article/8b9cf780d359432297f4f4bbc8676255
Autor:
Sonia Maria Dozzi BRUCKI, Tarso ADONI, Carlos Mauricio Oliveira ALMEIDA, Daniel Ciampi de ANDRADE, Renato ANGHINAH, Luciana Mendonça BARBOSA, Rodrigo BAZAN, Alzira Alves de Siqueira CARVALHO, William CARVALHO, Paulo Pereira CHRISTO, Marcus Della COLETTA, Adriana Bastos CONFORTO, Ylmar CORREA-NETO, Eliasz ENGELHARDT, Marcondes Cavalcante FRANÇA JUNIOR, Clelia FRANCO, Felipe VON GLEHN, Helio Rodrigues GOMES, Caroline Gomes de Barros HOULY, Alexandre Ottoni KAUP, Fernando KOWACS, Aline KANASHIRO, Victor Gonçalves LOPES, Débora MAIA, Maria MANREZA, Alberto Rolim Muro MARTINEZ, Sandra Cristina Gonçalves MARTINEZ, Saulo Nardy NADER, Luciana de Oliveira NEVES, Ivan Hideyo OKAMOTO, Rogério Adas Ayres de OLIVEIRA, Fabiano de Melo PEIXOTO, Cristiana Borges PEREIRA, Roberta Arb SABA, Leticia Pereira de Brito SAMPAIO, Lucas Porcello SCHILLING, Marcus Tulius Teixeira SILVA, Emanuelle Roberta SILVA, Jerusa SMID, Cristiane Nascimento SOARES, Manoel SOBREIRA-NETO, Nise Alessandra de Carvalho SOUSA, Leonardo Cruz de SOUZA, Hélio Afonso Ghizoni TEIVE, Vera Cristina TERRA, Matheus VALE, Vitor Mendes Grise VIEIRA, Edmar ZANOTELI, Gilmar PRADO
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 79, Iss 4, Pp 354-369 (2021)
ABSTRACT Cannabinoids comprehend endocannabinoids, phytocannabinoids, and synthetic cannabinoids, with actions both in the central and peripherical nervous systems. A considerable amount of publications have been made in recent years, although cannab
Externí odkaz:
https://doaj.org/article/55dcbaae20d94e21bc919be4baef45a0
Autor:
Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Thiago Junqueira Ribeiro Rezende, Pedro Braga Neto, Marcondes Cavalcante França Junior, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 79, Iss 10, Pp 891-894 (2021)
Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of ny
Externí odkaz:
https://doaj.org/article/16272f487728499aa39e201b0a101c74
Autor:
Laís Alves Jacinto-Scudeiro, Gustavo Dariva Machado, Annelise Ayres, Daniela Burguêz, Marcia Polese-Bonatto, Carelis González-Salazar, Marina Siebert, Marcondes Cavalcante França Junior, Maira Rozenfeld Olchik, Jonas Alex Morales Saute
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 77, Iss 12, Pp 843-847 (2020)
ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to signif
Externí odkaz:
https://doaj.org/article/e241ffc7ddaa49a2a346b33ea69c4e40
Autor:
Fabrício Castro de BORBA, Brunno Machado de CAMPOS, João Pedro Nunes GONÇALVES, Carlos Roberto MARTINS JUNIOR, Marcondes Cavalcante FRANÇA JUNIOR
Publikováno v:
Arquivos de Neuro-Psiquiatria
Externí odkaz:
https://doaj.org/article/063122fddcfc4a3195f59df1bc6ac446
Autor:
Camila Maria de Oliveira, Vanessa Bielefeldt Leotti, Sandra Polita, Mauricio Anes, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Gabriela Ecco, Gabriela Bolzan, Nathalia Kersting, Juliana Avila Duarte, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante França Junior, Thiago Junqueira Ribeiro Rezende, Laura Bannach Jardim
Publikováno v:
Journal of Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7070650cc794dd6a3750895b3cc511fe
https://doi.org/10.1007/s00415-023-11763-6
https://doi.org/10.1007/s00415-023-11763-6
Autor:
José Luiz Pedroso, Marcelo Andrés Kauffman, Renato P. Munhoz, Hélio A.G. Teive, Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Junior
Publikováno v:
The Cerebellum. 21:1073-1084
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80161e57135d48296d25bc60e42b02c6
https://doi.org/10.1007/s12311-021-01345-5
https://doi.org/10.1007/s12311-021-01345-5
Autor:
Erich Talamoni Fonoff, Carelis González-Salazar, Orlando Graziani Povoas Barsottini, Carolina Pinto Souza, José Luiz Pedroso, Marcondes Cavalcante França Junior, Daniel Boari Coelho, Debora S. F. Campos, Edrin Claro de Oliveira Vicente, Maria Gabriela dos Santos Ghilardi
Publikováno v:
Parkinsonism & Related Disorders. 83:1-5
Introduction Hereditary spastic paraplegia is a heterogeneous group of genetic disorders characterized by degeneration of the corticospinal tracts, coursing with progressive weakness and spasticity of the lower limbs. To date, there are no effective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea5de8cc9f02a74eec2e362960814cf2
https://doi.org/10.1016/j.parkreldis.2020.12.008
https://doi.org/10.1016/j.parkreldis.2020.12.008
Autor:
Lais Alves Jacinto-Scudeiro, Rui Rothe-Neves, Vanessa Brzoskowski dos Santos, Gustavo Dariva Machado, Daniela Burguêz, Marina Martins Pereira Padovani, Annelise Ayres, Rafaela Soares Rech, Carelis González-Salazar, Marcondes Cavalcante França Junior, Jonas Alex Morales Saute, Maira Rozenfeld Olchik
Publikováno v:
Clinics, Volume: 78, Article number: 100128, Published: 27 FEB 2023
Objective: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. Methods: Cross-sectional study was carried out in two university hospitals in Brazil. Two groups partic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25730c3c8a560661eaf81e7f794ea065
https://pubmed.ncbi.nlm.nih.gov/36473366
https://pubmed.ncbi.nlm.nih.gov/36473366