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

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

por Gómez-González, Clara, Esteban-Rodríguez, Maria Isabel, Ruano, Yolanda, Vallespín, Elena, Lapunzina, Pablo, Martínez, Paloma, Pascual, Samuel I., Molano, Jesús, Prior, Carmen
Publicado 2017

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

A Pilot Study on the Use of Low Doses of CBD to Control Seizures in Rare and Severe Forms of Drug-Resistant Epilepsy

por Pesántez Ríos, Gabriela, Armijos Acurio, Luciana, Jimbo Sotomayor, Ruth, Cueva, Victor, Pesántez Ríos, Ximena, Navarrete Zambrano, Hugo, Pascual, Samuel, Pesántez Cuesta, Galo
Publicado 2022

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

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

por Soldevilla, Beatriz, Cuevas-Martín, Carmen, Ibáñez, Clara, Santacatterina, Fulvio, Alberti, María A., Simó, Carolina, Casasnovas, Carlos, Márquez-Infante, Celedonio, Sevilla, Teresa, Pascual, Samuel I., Sánchez-Aragó, María, Espinos, Carmen, Palau, Francesc, Cuezva, José M.
Publicado 2017

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

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

por Álvarez, Victoria, Sánchez-Ferrero, Elena, Beetz, Christian, Díaz, Marta, Alonso, Belén, Corao, Ana I, Gámez, Josep, Esteban, Jesús, Gonzalo, Juan F, Pascual-Pascual, Samuel I, de Munain, Adolfo López, Moris, Germán, Ribacoba, Renne, Márquez, Celedonio, Rosell, Jordi, Marín, Rosario, García-Barcina, Maria J, del Castillo, Emilia, Benito, Carmen, Coto, Eliecer
Publicado 2010

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