Zobrazeno 1 - 10
of 479
pro vyhledávání: '"Mariz, Vainzof"'
Autor:
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Eni Braga da Silveira, Bruno Arrivabene Cordeiro, Maria Isabel Lima, Monica Machado Navarro, Frederico Godinho, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Alexandre Faleiros Cauhi, Julia Filardi Paim, Mariz Vainzof
Publikováno v:
Surgical and Experimental Pathology, Vol 7, Iss 1, Pp 1-35 (2024)
Abstract Background Telethoninopathy or TCAP-gene related Limb Girdle Muscular Dystrophy is a rare genetic disease that was first described in Brazil. There are around 100 families reported worldwide. Due to its rarity, detailed information on muscle
Externí odkaz:
https://doaj.org/article/39faa53128a7410ba66a4095496343f4
Autor:
Felipe Tadeu Galante Rocha de Vasconcelos, Antonio Fernando Ribeiro Júnior, Brandow Willy Souza, Isabela de Aquino Zogbi, Laura Machado Lara Carvalho, Letícia Nogueira Feitosa, Lucas Santos Souza, Nathália Gagliardi Saldys, Merari de Fátima Ramires Ferrari, Mariz Vainzof
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionTubular aggregates (TA) are skeletal muscle structures that arise from the progressive accumulation of sarcoplasmic reticulum proteins. Cytoplasmic aggregates in muscle fibers have already been observed in mice and humans, mainly during a
Externí odkaz:
https://doaj.org/article/5b798d6398ae4d68bccd154fb0b31ff5
Autor:
Jean Marcel de Mello, Pamela Vieira Andrade, Joilson Moura Santos, Acary Souza Bulle Oliveira, Mariz Vainzof, José Luiz Gomes do Amaral, Helga Cristina Almeida da Silva
Publikováno v:
Brazilian Journal of Anesthesiology, Vol 73, Iss 2, Pp 145-152 (2023)
Introduction: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates ab
Externí odkaz:
https://doaj.org/article/17153c98e7fe4f65bf74ec0317351ca8
Autor:
Pamela V. Andrade, Joilson M. Santos, Anne C. B. Teixeira, Vanessa F. Sogari, Michelle S. Almeida, Fabiano M. Callegari, Ana C. V. Krepischi, Acary S. B. Oliveira, Mariz Vainzof, Helga C. A. Silva
Publikováno v:
Genes, Vol 14, Iss 7, p 1360 (2023)
Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (RYR1) pathogenic variants. We described here
Externí odkaz:
https://doaj.org/article/7cfa37caacef436bb55d7d495c705728
Autor:
Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11995 (2022)
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was abl
Externí odkaz:
https://doaj.org/article/a584738b8a154bf3a5f440be4bc9ce1d
Autor:
Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, Mariz Vainzof
Publikováno v:
Genes, Vol 13, Iss 5, p 760 (2022)
Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mil
Externí odkaz:
https://doaj.org/article/0a82d280f69341588851a32b76eda3e7
Autor:
Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mu
Externí odkaz:
https://doaj.org/article/b0cb6d4e3d1a46c39a87d324c172427c
Autor:
Helga Cristina Almeida da Silva, Marcia Hiray, Mariz Vainzof, Beny Schmidt, Acary Souza Bulle Oliveira, José Luiz Gomes do Amaral
Publikováno v:
Revista Brasileira de Anestesiologia, Vol 68, Iss 4, Pp 404-407 (2018)
Abstract Background and objectives Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of
Externí odkaz:
https://doaj.org/article/9565f27f31274119a22a9c8366bae879
Autor:
Silva, Pamela V. Andrade, Joilson M. Santos, Anne C. B. Teixeira, Vanessa F. Sogari, Michelle S. Almeida, Fabiano M. Callegari, Ana C. V. Krepischi, Acary S. B. Oliveira, Mariz Vainzof, Helga C. A.
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1360
Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (RYR1) pathogenic variants. We described here
Autor:
Felipe Tadeu Galante Rocha de Vasconcelos, Laura Machado Lara Carvalho, Lucas Santos e Souza, Igor Neves Barbosa, Carolini Kaid Dávila, Mayana Zatz, Mariz Vainzof
Publikováno v:
Genética na Escola. 17:26-40
Modelos animais são espécies não humanas que têm sido utilizadas em inúmeras pesquisas científicas, permitindo a compreensão do funcionamento de organismos vivos complexos, além do desenvolvimento de tecnologias aplicadas à saúde humana, co