Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Marcondes CA"'
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 82, Iss 06, Pp 001-010 (2024)
Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the i
Externí odkaz:
https://doaj.org/article/e28f903fa4774e919921309e93bc562f
Autor:
Edmar Zanoteli, Alexandra Prufer de Queiróz Campos Araujo, Michele Michelin Becker, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França, Marcela Camara Machado-Costa, Wilson Marques, Ciro Matsui Jr, Rodrigo Holanda Mendonça, Flávia Nardes, Acary Souza Bulle Oliveira, Andre Luis Santos Pessoa, Jonas Alex Morales Saute, Paulo Sgobbi, Hélio Van der Linden, Juliana Gurgel-Giannetti
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 82, Iss 01, Pp 001-018 (2024)
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor a
Externí odkaz:
https://doaj.org/article/d5abdbdbc3fe4b4b985d20f677267041
Autor:
Fabricio Diniz de Lima, Alberto Rolim Muro Martinez, Gabriel da Silva Schmitt, Andrea Fernandes Eloy da Costa França, Paulo Eduardo Neves Ferreira Velho, Juliana Akita, José Antônio Garbino, Anamarli Nucci, Marcondes Cavalcante França Jr
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 81, Iss 09, Pp 785-794 (2023)
Background The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation. However, th
Externí odkaz:
https://doaj.org/article/6960e830d2014b56bafee10036d37e84
Autor:
Francisco de Assis Aquino Gondim, Wladimir Bocca Vieira de Rezende Pinto, Marco Antônio Troccoli Chieia, Carolina da Cunha Correia, Francisco Marcos Bezerra Cunha, Mário Emílio Teixeira Dourado Jr, Marcondes Cavalcante França Júnior, Wilson Marques Júnior, Acary Souza Bulle Oliveira, Cleonisio Leite Rodrigues, Delson José da Silva, Elza Dias-Tosta
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 81, Iss 08, Pp 764-775 (2023)
The spectrum of neuropsychiatric phenomena observed in amyotrophic lateral sclerosis (ALS) is wide and not fully understood. Disorders of laughter and crying stand among the most common manifestations. The aim of this study is to report the results o
Externí odkaz:
https://doaj.org/article/70f2d0adf5444da089fc3fc57b5930c6
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:
Marcus Vinicius Pinto, Marcondes Cavalcante França, Marcus Vinicius Magno Gonçalves, Marcela Câmara Machado-Costa, Marcos Raimundo Gomes de Freitas, Francisco de Assis Aquino Gondim, Carlo Domenico Marrone, Alberto Rolim Muro Martinez, Carolina Lavigne Moreira, Osvaldo J. M. Nascimento, Anna Paula Paranhos Covaleski, Acary Souza Bulle de Oliveira, Camila Castelo Branco Pupe, Marcia Maria Jardim Rodrigues, Francisco Tellechea Rotta, Rosana Herminia Scola, Wilson Marques, Márcia Waddington-Cruz
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 81, Iss 03, Pp 308-321 (2023)
Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis
Externí odkaz:
https://doaj.org/article/6b432dc2341e4394aae69773f46a71f4
Autor:
Alexandra Prufer de Queiroz Campos Araujo, Jonas Alex Morales Saute, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante França Jr, Jaqueline Almeida Pereira, Marco Antonio Veloso de Albuquerque, Alzira Alves de Siqueira Carvalho, Eduardo Boiteux Uchôa Cavalcanti, Anna Paula Paranhos Miranda Covaleski, Simone Chaves Fagondes, Juliana Gurgel-Giannetti, Marcus Vinicius Magno Gonçalves, Alberto Rolim Muro Martinez, Antônio Rodrigues Coimbra Neto, Flavio Reis Neves, Anamarli Nucci, Ana Paula Cassetta dos Santos Nucera, Andre Luis Santos Pessoa, Marcos Ferreira Rebel, Flavia Nardes dos Santos, Rosana Herminia Scola, Cláudia Ferreira da Rosa Sobreira
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 81, Iss 01, Pp 081-094 (2023)
In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A gro
Externí odkaz:
https://doaj.org/article/e7394276d1634927a5b0e0cfebf906de
Autor:
Alice Brinckmann Oliveira Netto, Ana Carolina Brusius Facchin, Julia Lemos, Fernanda Bender Pasetto, Paloma Wiest, Vivian Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda Bittar, Francisco Forestiero, Cristina Wang, Janaina Martins de Lana, Marcondes Cavalcante Franca, Jr, Roberto Giugliani
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100702- (2023)
Externí odkaz:
https://doaj.org/article/2b49311de01c48e2b1416c3fd7c6a7c7
Autor:
Gabriela Marchisio Giordani, Fabrício Diniz, Helena Fussiger, Carelis Gonzalez-Salazar, Karina Carvalho Donis, Fernando Freua, Roberta Paiva Magalhães Ortega, Julian Letícia de Freitas, Orlando Graziani Povoas Barsottini, Sergio Rosemberg, Fernando Kok, José Luiz Pedroso, Marcondes Cavalcante França, Jonas Alex Morales Saute
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which p
Externí odkaz:
https://doaj.org/article/073d2145390142cba71bb2a8e6f713c7
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