Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Vívian Pedigone Cintra"'
1
Akademický článek
Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis
Autor: Vinicius Stefani Borghetti, Vívian Pedigone Cintra, Jean de Oliveira Ramos, Vanessa Daccach Marques, Patrícia Toscano Onofre, Victor Augusto Souza Santana, Lua Flora Pereira Bezerra, Pedro José Tomaselli, André Cleriston José dos Santos, Claudia Ferreira da Rosa Sobreira, Wilson Marques Jr
Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 80, Iss 07, Pp 676-680 (2022)
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to tho
Externí odkaz: https://doaj.org/article/814c4ceee85b4871b735355499162877
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2
Erros de diagnóstico em uma população brasileira com esclerose lateral amiotrófica
Autor: Vinicius Stefani Borghetti, Vívian Pedigone Cintra, Jean de Oliveira Ramos, Vanessa Daccach Marques, Patrícia Toscano Onofre, Victor Augusto Souza Santana, Lua Flora Pereira Bezerra, Pedro José Tomaselli, André Cleriston José dos Santos, Claudia Ferreira da Rosa Sobreira, Wilson Marques Jr
Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 80, Issue: 7, Pages: 676-680, Published: 21 NOV 2022
Arquivos de Neuro-Psiquiatria v.80 n.7 2022
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to tho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8690b996d0727eb19668ea537f504b1e
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000800676&lng=en&tlng=en
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3
Large scale in silico characterization of repeat expansion variation in human genomes
Autor: Dana M. Bis-Brewer, Matt C. Danzi, Egor Dolzhenko, Sarah Fazal, Vívian Pedigone Cintra, Stephan Züchner, Michael A. Eberle
Publikováno v: Scientific Data
Scientific Data, Vol 7, Iss 1, Pp 1-14 (2020)
Significant progress has been made in elucidating single nucleotide polymorphism diversity in the human population. However, the majority of the variation space in the genome is structural and remains partially elusive. One form of structural variati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b939c3a859ce32316e9d3fb045f7541
http://europepmc.org/articles/PMC7479135
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5
Akademický článek
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
Autor: Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, Joao Bosco de Oliveira Filho
Publikováno v: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Gene
Externí odkaz: https://doaj.org/article/0c95d03f938a4487814f7372787d1492
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7
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
Autor: Luca Bosco, Fabrizia Stregapede, Paolo Alfieri, Enrico Bertini, Adriana P. Rebelo, Vívian Pedigone Cintra, Francesco Nicita, S. Pro, Stephan Züchner, Lorena Travaglini, Emanuele Bellacchio
Publikováno v: Clinical geneticsREFERENCES. 97(3)
Dominant mutations in ATP1A1, encoding the alpha-1 isoform of the Na+ /K+ -ATPase, have been recently reported to cause an axonal to intermediate type of Charcot-Marie-Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizure
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcb8fe3bcd8dfff4c0096d986501b8d0
https://pubmed.ncbi.nlm.nih.gov/31705535
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8
Caracterização clínica e molecular de 211 pacientes brasileiros com a doença de Machado-Joseph
Autor: Giovanna Cordeiro Ferreira, Wilson Marques Júnior, Vívian Pedigone Cintra, Pedro J. Tomaselli, Murilo Junqueira Cavalari Dias, Sandra Elisabete Marques
Publikováno v: Revista Eletrônica Acervo Saúde. 12:e4827
Objetivo: Avaliar as características clínicas e genéticas de um grande grupo de acometidos pela ataxia espinocerebelar tipo 3 (AEC3), conhecida por Doença de Machado-Joseph (DMJ). Métodos: 211 pacientes AEC3/DMJ foram caracterizados de acordo co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::42fd99b5948493e959dcca4c8922a14e
https://doi.org/10.25248/reas.e4827.2020
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9
Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients
Autor: Vitor Tumas, Rinaldo Claudino, Antônio Lúcio Teixeira, Mario Emilio Dourado, Milena de Albuquerque, Rafael Esteves Duarte Couteiro, Marcondes C. França, Daniel Sabino de Oliveira, Helen Andrade, Anamarli Nucci, Wilson Marques, Acary Souza Bulle Oliveira, Laura de Godoy Rousseff Prado, Camila Piccinin, Iscia Lopes-Cendes, Leonardo Cruz de Souza, Marcos Vinicius Magno Gonçalves, Luciana Cardoso Bonadia, Vívian Pedigone Cintra
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73843cb17b454d15913961c19b386b71
https://pubmed.ncbi.nlm.nih.gov/29934271
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10
The frequency of the C9orf72 expansion in a Brazilian population
Autor: Mayara Ferreira Eusébio, Vitor Tumas, Milena de Albuquerque, Vívian Pedigone Cintra, Helen Andrade, Luciana Cardoso Bonadia, Acary Souza Bulle Oliveira, Antônio Lúcio Teixeira, Marcus Goncalves, Daniel Sabino de Oliveira, Mario Emilio Dourado, Marcondes C. França, Leonardo Cruz de Souza, Rinaldo Claudino, Laura de Godoy Rousseff Prado, Wilson Marques
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence of the G4C2 repeat expansion in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05096614b73d7827200c0138afc2db5d
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