Neuromuscular disorders: genes, genetic counseling and therapeutic trials

por Zatz, Mayana, Passos-Bueno, Maria Rita, Vainzof, Mariz
Publicado 2016

Muscle Satellite Cells: Exploring the Basic Biology to Rule Them

por Almeida, Camila F., Fernandes, Stephanie A., Ribeiro Junior, Antonio F., Keith Okamoto, Oswaldo, Vainzof, Mariz
Publicado 2016

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro

por Jazedje, Tatiana, Secco, Mariane, Vieira, Natássia M, Zucconi, Eder, Gollop, Thomaz R, Vainzof, Mariz, Zatz, Mayana
Publicado 2009

Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals

por Zatz, Mayana, Pavanello, Rita de Cassia M., Lourenço, Naila Cristina V., Cerqueira, Antonia, Lazar, Monize, Vainzof, Mariz
Publicado 2012

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy

por Silva, Helga Cristina Almeida da, Hiray, Marcia, Vainzof, Mariz, Schmidt, Beny, Oliveira, Acary Souza Bulle, Amaral, José Luiz Gomes do
Publicado 2017

Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy

por Silva, Marly C, Rassi, Carlos H, Meira, Zilda M, Giannetti, Juliana G, Vainzof, Mariz, Zatz, Mayana, Kalil, Roberto, Rochitte, Carlos E
Publicado 2014

Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy and preserved left ventricular ejection fraction - a random...

por Silva, Marly C, Rassi, Carlos H, Meira, Zilda M, Giannetti, Juliana G, Vainzof, Mariz, Zatz, Mayana, Kalil, Roberto, Rochitte, Carlos E
Publicado 2014

Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy

por Silva, Marly C, Meira, Zilda M, Giannetti, Juliana G, Lara, Marco A, Vainzof, Mariz, Zatz, Mayana, Kalil-Filho, Roberto, Rochitte, Carlos E
Publicado 2013

Preclinical Studies with Umbilical Cord Mesenchymal Stromal Cells in Different Animal Models for Muscular Dystrophy

por Zucconi, Eder, Vieira, Natassia Moreira, Bueno, Carlos Roberto, Secco, Mariane, Jazedje, Tatiana, Costa Valadares, Marcos, Fussae Suzuki, Miriam, Bartolini, Paolo, Vainzof, Mariz, Zatz, Mayana
Publicado 2011

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report

por Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz
Publicado 2014

Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies

por Ribeiro, Antonio F., Souza, Lucas S., Almeida, Camila F., Ishiba, Renata, Fernandes, Stephanie A., Guerrieri, Danielle A., Santos, André L. F., Onofre-Oliveira, Paula C. G., Vainzof, Mariz
Publicado 2019

Dmd(mdx)/Large(myd): a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies

por Martins, Poliana C. M., Ayub-Guerrieri, Danielle, Martins-Bach, Aurea B., Onofre-Oliveira, Paula, Malheiros, Jackeline M., Tannus, Alberto, de Sousa, Paulo L., Carlier, Pierre G., Vainzof, Mariz
Publicado 2013

The mdx Mutation in the 129/Sv Background Results in a Milder Phenotype: Transcriptome Comparative Analysis Searching for the Protective Factors

por Calyjur, Priscila Clara, Almeida, Camila de Freitas, Ayub-Guerrieri, Danielle, Ribeiro, Antonio Fernando, Fernandes, Stephanie de Alcântara, Ishiba, Renata, dos Santos, Andre Luis Fernandes, Onofre-Oliveira, Paula, Vainzof, Mariz
Publicado 2016

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role

por Andrade, Pamela V., Santos, Joilson M., Teixeira, Anne C. B., Sogari, Vanessa F., Almeida, Michelle S., Callegari, Fabiano M., Krepischi, Ana C. V., Oliveira, Acary S. B., Vainzof, Mariz, Silva, Helga C. A.
Publicado 2023

Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx,...

por Martins-Bach, Aurea B., Malheiros, Jackeline, Matot, Béatrice, Martins, Poliana C. M., Almeida, Camila F., Caldeira, Waldir, Ribeiro, Alberto F., Loureiro de Sousa, Paulo, Azzabou, Noura, Tannús, Alberto, Carlier, Pierre G., Vainzof, Mariz
Publicado 2015

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

por Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S.B., Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz
Publicado 2020

Renewed Avenues through Exercise Muscle Contractility and Inflammatory Status

por Zanchi, Nelo Eidy, Almeida, Felipe Natali, Lira, Fábio Santos, Neto, José César Rosa, Nicastro, Humberto, da Luz, Claudia Ribeiro, de Siqueira Filho, Mário Alves, Felitti, Vitor, Vainzof, Mariz, Seelaender, Marilia, Poortmans, Jacques R., Lancha, Antonio Herbert
Publicado 2012

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern

por Cotta, Ana, Paim, Julia Filardi, da-Cunha-Junior, Antonio Lopes, Neto, Rafael Xavier, Nunes, Simone Vilela, Navarro, Monica Magalhaes, Valicek, Jaquelin, Carvalho, Elmano, Yamamoto, Lydia U, Almeida, Camila F, Braz, Shelida Vasconcelos, Takata, Reinaldo Issao, Vainzof, Mariz
Publicado 2014

Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms

por Cotta, Ana, Souza, Lucas Santos, Carvalho, Elmano, Feitosa, Leticia Nogueira, Cunha, Antonio, Navarro, Monica Machado, Valicek, Jaquelin, Menezes, Miriam Melo, Neves, Simone Vilela Nunes, Xavier-Neto, Rafael, Vargas, Antonio Pedro, Takata, Reinaldo Issao, Paim, Julia Filardi, Vainzof, Mariz
Publicado 2022

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

por Fernandes, Stephanie A., Almeida, Camila F., Souza, Lucas S., Lazar, Monize, Onofre-Oliveira, Paula, Yamamoto, Guilherme L., Nogueira, Letícia, Tasaki, Letícia Y., Cardoso, Rafaela R., Pavanello, Rita C. M., Silva, Helga C. A., Ferrari, Merari F. R., Bigot, Anne, Mouly, Vincent, Vainzof, Mariz
Publicado 2020