Characterizing Normal and Pathological Gait through Permutation Entropy

por Zanin, Massimiliano, Gómez-Andrés, David, Pulido-Valdeolivas, Irene, Martín-Gonzalo, Juan Andrés, López-López, Javier, Pascual-Pascual, Samuel Ignacio, Rausell, Estrella
Publicado 2018

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

por Pulido-Valdeolivas, Irene, Gómez-Andrés, David, Martín-Gonzalo, Juan Andrés, Rodríguez-Andonaegui, Irene, López-López, Javier, Pascual-Pascual, Samuel Ignacio, Rausell, Estrella
Publicado 2018

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

por Méndez-Echevarría, Ana, Caminoa, María Belén, del Rosal, Teresa, Casas, Inmaculada, Pozo, Francisco, Pascual-Pascual, Samuel Ignacio, García-Romero, Mar, Cámara, Carmen, Calvo, Cristina
Publicado 2021

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

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

por Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia
Publicado 2013

COVID-19 in children with neuromuscular disorders

por Natera-de Benito, Daniel, Aguilera-Albesa, Sergio, Costa-Comellas, Laura, García-Romero, Mar, Miranda-Herrero, María Concepción, Rúbies Olives, Júlia, García-Campos, Óscar, Martínez del Val, Elena, Martinez Garcia, Maria Josefa, Medina Martínez, Inmaculada, Cancho-Candela, Ramón, Fernandez-Garcia, Miguel A., Pascual-Pascual, Samuel Ignacio, Gómez-Andrés, David, Nascimento, Andres
Publicado 2021

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

por Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
Publicado 2017

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

por Justel, Maria, Jou, Cristina, Sariego-Jamardo, Andrea, Juliá-Palacios, Natalia Alexandra, Ortez, Carlos, Poch, Maria Luisa, Hedrera-Fernandez, Antonio, Gomez-Martin, Hilario, Codina, Anna, Dominguez-Carral, Jana, Muxart, Jordi, Hernández-Laín, Aurelio, Vila-Bedmar, Sara, Zulaica, Miren, Cancho-Candela, Ramon, Castro, Margarita del Carmen, de la Osa-Langreo, Alberto, Peña-Valenceja, Alfonso, Marcos-Vadillo, Elena, Prieto-Matos, Pablo, Pascual-Pascual, Samuel Ignacio, López de Munain, Adolfo, Camacho, Ana, Estevez-Arias, Berta, Musokhranova, Uliana, Olivella, Mireia, Oyarzábal, Alfonso, Jimenez-Mallebrera, Cecilia, Domínguez-González, Cristina, Nascimento, Andrés, García-Cazorla, Àngels, Natera-de Benito, Daniel
Publicado 2023