Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Thiago Yoshinaga Tonholo, Silva"'
Autor:
Breno Kazuo Massuyama, Maria Thereza Drumond Gama, Thiago Yoshinaga Tonholo Silva, Pedro Braga-Neto, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 82, Iss 08, Pp 1-8 (2024)
Background Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs).
Externí odkaz:
https://doaj.org/article/5c0f1bcc811d4c6d840ddb9659913803
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
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:
Thiago Yoshinaga Tonholo Silva, Lucas de Oliveira Cantaruti Guida, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 81, Iss 07, Pp 700-700 (2023)
Externí odkaz:
https://doaj.org/article/7322b60910e245e5a318c36c9bed13c9
Autor:
Bruna Gutierres Gambirasio, Rodrigo Matos Amaral, Thiago Yoshinaga Tonholo Silva, Danilo Manuel Cerqueira Costa, Flavio Moura Rezende Filho, Pedro Henrique Reis Caldeira Brant, Marcio Luiz Escorcio-Bezerra, Orlando G P Barsottini, José Luiz Pedroso
Publikováno v:
Practical Neurology. 23:67-70
A 57-year-old man was diagnosed with acute myocardial infarction and Stanford type A aortic dissection that had spread to the common iliac arteries. He underwent a Bentall procedure for vascular repair. Immediately after surgery, he developed numbnes
Autor:
Luane Abdalla, Gouvêa, Ivana Rocha, Raslan, Augusto Bragança Reis, Rosa, Thiago Yoshinaga Tonholo, Silva, Rejane Macedo, Campos, Marcelo de Melo, Aragão, Orlando Graziani Povoas, Barsottini, José Luiz, Pedroso
Publikováno v:
The Cerebellum. 22:316-318
Autor:
Victor Hugo Rocha Marussi, Fabiano Ferreira Abrantes, Marianna Pinheiro Moraes de Moraes, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Andrea Meneses, Thiago Yoshinaga Tonholo Silva
Publikováno v:
Neurology. 97(16)
A 60-year-old woman with cognitive developmental delay presented with childhood-onset seizures and cutaneous abnormalities evolving over the left hemiface and eye. Examination showed alopecia, naevus psiloliparus, subcutaneous fat accumulation, and p
Autor:
Thiago Yoshinaga Tonholo Silva, Wardislau Ferreira, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Publikováno v:
Mov Disord Clin Pract
Autor:
Mateus Mistieri Simabukuro, Orlando Graziani Povoas Barsottini, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, Augusto Bragança Reis Rosa
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 36(10)
Autor:
Orlando Graziani Povoas Barsottini, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, Caio R Quaio, Dineke Verbeek, Augusto Bragança Reis Rosa
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology. Genetics, 7(3):e581, 1-5. LIPPINCOTT WILLIAMS & WILKINS
article-version (Version of Record) 3
Neurology. Genetics, 7(3):e581, 1-5. LIPPINCOTT WILLIAMS & WILKINS
Spinocerebellar ataxias (SCAs) are a large group of genetically and phenotypically heterogeneous autosomal dominant, neurodegenerative disorders manifesting with progressive cerebellar ataxia usually with adult-onset.1 Currently, 48 subtypes of SCAs