Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Jonas Alex Morales, Saute"'
Autor:
Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, Mariane Barros Neiva, Milena Artifon, Alberto Andrade Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, Bethania de Freitas Rodrigues Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Doris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena Junior, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lucia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Maria Teresinha De Oliveira Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Zeny, Milena Coelho Fernandes Caldato, Ney Boa Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy Da Silva, Rayana Elias Maia, Rodrigo Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vania Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinicius Costa Lima, Wagner José Martins Paiva, Ida Vanessa Doederlein Schwartz, Domingos Alves, Têmis Maria Félix, Raras Network Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this
Externí odkaz:
https://doaj.org/article/5b03fce23cb148d88e2d9b95dbec7a0d
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:
Nayê Balzan Schneider, Erica Caetano Roos, Ana Lúcia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamiê de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges, Carisi Anne Polanczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background The economic burden of rare diseases on health systems is still not widely measured, with the generation of accurate information about the costs with medical care for subjects with rare diseases being crucial when defining health
Externí odkaz:
https://doaj.org/article/a117deb94fbd4293ba77621c4ab7dfe1
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:
Diana Maria Cubillos Arcila, Gustavo Dariva Machado, Valéria Feijó Martins, Vanessa Bielefeldt Leotti, Rebecca Schüle, Leonardo Alexandre Peyré-Tartaruga, Jonas Alex Morales Saute
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionHereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases in which little is known about the most appropriate clinical outcome assessments (COAs) to capture disease progression. The objective of this st
Externí odkaz:
https://doaj.org/article/88f24352aa8f4075b514d283f6704bbe
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
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 80, Iss 09, Pp 944-952 (2022)
Establishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists
Externí odkaz:
https://doaj.org/article/b5a79f8496c74d05909edf175b77060f
Autor:
Vanessa Brzoskowski dos Santos, Jonas Alex Morales Saute, Laís Alves Jacinto-Scudeiro, Annelise Ayres, Rafaela Soares Rech, Alcyr Alves de Oliveira, Maira Rozenfeld Olchik
Publikováno v:
Dementia & Neuropsychologia, Vol 15, Iss 4, Pp 541-547 (2021)
ABSTRACT Although it is predominantly a muscular disease, impairments in the central nervous system in patients with facioscapulohumeral muscular dystrophy (FSHD) have been described in the literature. Objective: To describe the cognitive profile of
Externí odkaz:
https://doaj.org/article/90768d4eaa2343cd96a25eb28772479b
Autor:
Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially trea
Externí odkaz:
https://doaj.org/article/0efb18fac58149eaa7184750e1d73b5b
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