Výsledky vyhledávání - "João Pedro Nunes Gonçalves"

Akademický článek

Functional magnetic resonance imaging and diffusion tensor imaging findings in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis

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

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A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

Autor: Alexandre Hilário B. Mattos, Alberto R. M. Martinez, Antonio Rodrigues Coimbra Neto, Carelis González-Salazar, Fabio Rogerio, Thiago Junqueira Ribeiro de Rezende, Ana Luisa de Carvalho Cardozo Hernández, João Paulo Kitajima, Felipe Franco da Graça, Edmar Zanoteli, João Pedro Nunes Gonçalves, Alexandre Leite Rodrigues de Oliveira, Marcondes C. França, Anamarli Nucci, Lucas Mitsuo Taniguti, Fernando Kok, Tauana Bernardes Leoni, André Macedo Serafim da Silva

Publikováno v: Annals of Neurology. 90:239-252

Objective Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also in other conditions, such as frontemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept of multisyste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92fdf1d04831d506ff4b4d0b10e6c105
https://doi.org/10.1002/ana.26136

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Achados de functional magnetic resonance imaging e diffusion tensor imaging em um paciente com paralisia da mirada horizontal com progressiva escoliose, relacionado ao gene ROBO3

Autor: Fabrício Castro de Borba, Marcondes Cavalcante França Junior, João Pedro Nunes Gonçalves, Brunno Machado de Campos, Carlos Roberto Martins Junior

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 79, Issue: 12, Pages: 1153-1154, Published: 01 OCT 2021
Arquivos de Neuro-Psiquiatria, Issue: ahead, Published: 01 OCT 2021
Arquivos de Neuro-Psiquiatria
Arquivos de Neuro-Psiquiatria v.79 n.12 2021
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

A 24-year-old-woman woman presented with birth-onset horizontal gaze ophthalmoplegia. Past medical history was unremarkable. Her brother had similar findings with severe progressive scoliosis, requiring surgery. After 12 years of follow-up, the patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f704edc641179169556ac3511c58097e
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001201153&lng=en&tlng=en

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Genetic epidemiology of familial ALS in Brazil

Autor: Jonas Alex Morales Saute, João Pedro Nunes Gonçalves, Anna Paula Paranhos Miranda Covaleski, Wilson Marques, Thiago Mazzo Peluzzo, Melina Pazian Martins, Mario Emilio Dourado, Rinaldo Claudino, Marcondes C. França, Tauana Bernardes Leoni, Acary Souza Bulle Oliveira, Anamarli Nucci

Publikováno v: Neurobiology of aging. 102

Many genes associated with familial forms of the amyotrophic lateral sclerosis (fALS) have been identified in European and North American cohorts. However, little is known about the genetic bases of fALS in Latin America and Brazil, in particular. To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9aed5dd49aa9a5750d310e69e022c3c
https://pubmed.ncbi.nlm.nih.gov/33618928

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Genetic bases of amyotrophic lateral sclerosis on familiar and sporadic brazilian patients

Autor: João Pedro Nunes Gonçalves

Publikováno v: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

Orientador: Marcondes Cavalcante França Júnior Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Resumo: Esclerose lateral amiotrófica (ELA) é uma doença degenerativa, progressiva e paralisante que aco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b4e89db25649501046188e0d65c5a8

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CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Little is known about the genetic basis of amyotrophic lateral sclerosis (ALS) outside Europe and US. In this study, we investigated whether intermediate CAG expansions at ATXN1 were associated to ALS in the Brazilian population. To accomplish that,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cfc7213592ab0283ff4ba5aec8708ad
https://pubmed.ncbi.nlm.nih.gov/32339968

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