Gene therapy in neuromuscular disorders

por Mendonça, Rodrigo Holanda, Zanoteli, Edmar
Publicado 2022

Inflammatory myopathies: an update for neurologists

por Silva, André Macedo Serafim, Campos, Eliene Dutra, Zanoteli, Edmar
Publicado 2022

Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

por Neto, Osorio Abath, Tassy, Olivier, Biancalana, Valérie, Zanoteli, Edmar, Pourquié, Olivier, Laporte, Jocelyn
Publicado 2014

Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure – narrative review of the literature – case report

por Carvalho, Alzira Alves de Siqueira, da Silva, Vinicius Gomes, Zanoteli, Edmar, Feder, David
Publicado 2018

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid

por Darbar, Illora A, Plaggert, Paulo G, Resende, Maria Bernadete D, Zanoteli, Edmar, Reed, Umbertina C
Publicado 2011

Ozz-E3 Ubiquitin Ligase Targets Sarcomeric Embryonic Myosin Heavy Chain during Muscle Development

por Campos, Yvan, Qiu, Xiaohui, Zanoteli, Edmar, Moshiach, Simon, Vergani, Naja, Bongiovanni, Antonella, Harris, A. John, d'Azzo, Alessandra
Publicado 2010

The Effects of Omega-3 Fatty Acid Supplementation on Dexamethasone-Induced Muscle Atrophy

por Fappi, Alan, Godoy, Tiago S., Maximino, Jessica R., Rizzato, Vanessa R., Neves, Juliana de C., Chadi, Gerson, Zanoteli, Edmar
Publicado 2014

Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis

por de Camargo, Leonardo Valente, de Carvalho, Mary Souza, Shinjo, Samuel Katsuyuki, de Oliveira, Acary Souza Bulle, Zanoteli, Edmar
Publicado 2018

Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapy

por Machado, Darlene L, Silva, Elaine C, Resende, Maria B D, Carvalho, Celso R F, Zanoteli, Edmar, Reed, Umbertina C
Publicado 2012

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy,

por Marques, Tanyse Bahia Carvalho, Neves, Juliana de Carvalho, Portes, Leslie Andrews, Salge, João Marcos, Zanoteli, Edmar, Reed, Umbertina Conti
Publicado 2014

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

por Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto
Publicado 2023

Rhabdomyolysis: a genetic perspective

por Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros
Publicado 2015

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

por Abath, Osorio, Martins, Cristiane de Araújo, Carvalho, Mary, Chadi, Gerson, Seitz, Katia Werneck, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Laporte, Jocelyn, Zanoteli, Edmar
Publicado 2015

Omega‐3 multiple effects increasing glucocorticoid‐induced muscle atrophy: autophagic, AMPK and UPS mechanisms

por Fappi, Alan, Neves, Juliana de C., Kawasaki, Karine A., Bacelar, Luana, Sanches, Leandro N., P. da Silva, Felipe, Larina‐Neto, Rubens, Chadi, Gerson, Zanoteli, Edmar
Publicado 2019

Skeletal Muscle Response to Deflazacort, Dexamethasone and Methylprednisolone

por Fappi, Alan, Neves, Juliana de Carvalho, Sanches, Leandro Nunes, Massaroto e Silva, Pedro Victor, Sikusawa, Guilherme Yuiti, Brandão, Thayane Pereira Correa, Chadi, Gerson, Zanoteli, Edmar
Publicado 2019

Cognitive performance of children with spinal muscular atrophy: A systematic review

por Polido, Graziela Jorge, de Miranda, Mariana Mangini Vaz, Carvas, Nelson, Mendonça, Rodrigo de Holanda, Caromano, Fátima Aparecida, Reed, Umbertina Conti, Zanoteli, Edmar, Voos, Mariana Callil
Publicado 2019

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation

por Camelo, Clara Gontijo, Artilheiro, Mariana Cunha, Martins Moreno, Cristiane Araújo, Ferraciolli, Suely Fazio, Serafim Silva, André Macedo, Fernandes, Tatiana Ribeiro, Lucato, Leandro Tavares, Rocha, Antônio José, Reed, Umbertina Conti, Zanoteli, Edmar
Publicado 2023

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

por Ross, Jacob A., Tasfaout, Hichem, Levy, Yotam, Morgan, Jennifer, Cowling, Belinda S., Laporte, Jocelyn, Zanoteli, Edmar, Romero, Norma B., Lowe, Dawn A., Jungbluth, Heinz, Lawlor, Michael W., Mack, David L., Ochala, Julien
Publicado 2020

Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study

por Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S., Darras, Basil T.
Publicado 2022

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

por Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O’Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma
Publicado 2018