Scientific rationale for a higher dose of nusinersen

por Finkel, Richard S., Ryan, Monique M., Pascual Pascual, Samuel Ignacio, Day, John W., Mercuri, Eugenio, De Vivo, Darryl C., Foster, Richard, Montes, Jacqueline, Gurgel‐Giannetti, Juliana, MacCannell, Drew, Berger, Zdenek
Publicado 2022

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

por Finkel, Richard S., Day, John W., Pascual Pascual, Samuel Ignacio, Ryan, Monique M., Mercuri, Eugenio, De Vivo, Darryl C., Montes, Jacqueline, Gurgel-Giannetti, Juliana, Monine, Michael, Gambino, Giulia, Makepeace, Corinne, Foster, Richard, Berger, Zdenek
Publicado 2023

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

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

por Sampaio, Leticia Pereira de Brito, Manreza, Maria Luiza Giraldes de, Pessoa, André, Gurgel-Giannetti, Juliana, Coan, Ana Carolina, Júnior, Hélio van der Linden, Embiruçu, Emília Katiane, Henriques-Souza, Adélia Maria de Miranda, Kok, Fernando
Publicado 2023

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype

por Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silvana Amanda, Wang, Jaqueline Yu Ting, Scliar, Marília de Oliveira, Castelli, Erick C., Otto, Paulo Alberto, Zanoteli, Edmar, Vainzof, Mariz
Publicado 2020

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

por Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L., Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M., Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B., Machado-Costa, Marcela C., Wallgren-Pettersson, Carina, Laing, Nigel G., Nigro, Vincenzo, Vainzof, Mariz
Publicado 2022

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

por Araujo, Alexandra Prufer de Queiroz Campos, Saute, Jonas Alex Morales, Fortes, Clarisse Pereira Dias Drumond, França Jr, Marcondes Cavalcante, Pereira, Jaqueline Almeida, Albuquerque, Marco Antonio Veloso de, Carvalho, Alzira Alves de Siqueira, Cavalcanti, Eduardo Boiteux Uchôa, Covaleski, Anna Paula Paranhos Miranda, Fagondes, Simone Chaves, Gurgel-Giannetti, Juliana, Gonçalves, Marcus Vinicius Magno, Martinez, Alberto Rolim Muro, Coimbra Neto, Antônio Rodrigues, Neves, Flavio Reis, Nucci, Anamarli, Nucera, Ana Paula Cassetta dos Santos, Pessoa, Andre Luis Santos, Rebel, Marcos Ferreira, Santos, Flavia Nardes dos, Scola, Rosana Herminia, Sobreira, Cláudia Ferreira da Rosa
Publicado 2023

International retrospective natural history study of LMNA-related congenital muscular dystrophy

por Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle
Publicado 2021

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

por Mendonça, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Publicado 2020