Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies
Rodó, Carlota, Maiz, Nerea, Vázquez, Élida, Gómez‐Andrés, David, Valenzuela, Irene, Abulí, Anna, Carreras, Elena
Published in Prenatal diagnosis (01.11.2024)
Published in Prenatal diagnosis (01.11.2024)
Get full text
Journal Article
Entropy, Irreversibility, and Time-Series Deep Learning of Kinematic and Kinetic Data for Gait Classification in Children with Cerebral Palsy, Idiopathic Toe Walking, and Hereditary Spastic Paraplegia
de Gorostegui, Alfonso, Zanin, Massimiliano, Martín-Gonzalo, Juan-Andrés, López-López, Javier, Gómez-Andrés, David, Kiernan, Damien, Rausell, Estrella
Published in Sensors (Basel, Switzerland) (07.07.2025)
Published in Sensors (Basel, Switzerland) (07.07.2025)
Get full text
Journal Article
Deep Learning Unravels Differences Between Kinematic and Kinetic Gait Cycle Time Series from Two Control Samples of Healthy Children Assessed in Two Different Gait Laboratories
de Gorostegui, Alfonso, Kiernan, Damien, Martín-Gonzalo, Juan-Andrés, López-López, Javier, Pulido-Valdeolivas, Irene, Rausell, Estrella, Zanin, Massimiliano, Gómez-Andrés, David
Published in Sensors (Basel, Switzerland) (01.01.2025)
Published in Sensors (Basel, Switzerland) (01.01.2025)
Get full text
Journal Article
MCT8 Deficiency: The Road to Therapies for a Rare Disease
Grijota-Martínez, Carmen, Bárez-López, Soledad, Gómez-Andrés, David, Guadaño-Ferraz, Ana
Published in Frontiers in neuroscience (28.04.2020)
Published in Frontiers in neuroscience (28.04.2020)
Get full text
Journal Article
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
Gómez‐Andrés, David, Díaz, Jorge, Munell, Francina, Sánchez‐Montáñez, Ángel, Pulido‐Valdeolivas, Irene, Suazo, Lionel, Garrido, Cristián, Quijano‐Roy, Susana, Bevilacqua, Jorge A.
Published in Muscle & nerve (01.04.2019)
Published in Muscle & nerve (01.04.2019)
Get full text
Journal Article
Natural history of SGCE ‐associated myoclonus dystonia in children and adolescents
De Francesch, Valeria, Cazurro‐Gutiérrez, Ana, Timmers, Elze R., Español‐Martín, Gemma, Ferrero‐Turrión, Julia, Gómez‐Andrés, David, Marcé‐Grau, Anna, Dougherty‐de Miguel, Lucía, González, Victoria, Moreno‐Galdó, Antonio, Tijssen, Marina A. J., Pérez‐Dueñas, Belén
Published in Developmental medicine and child neurology (01.06.2025)
Published in Developmental medicine and child neurology (01.06.2025)
Get full text
Journal Article
Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation
Lasa‐Aranzasti, Amaia, Larasati, Yonika A., Silva Cardoso, Juliana, Solis, Gonzalo P., Koval, Alexey, Cazurro‐Gutiérrez, Ana, Ortigoza‐Escobar, Juan Dario, Miranda, Maria Concepción, De la Casa‐Fages, Beatriz, Moreno‐Galdó, Antonio, Tizzano, Eduardo F., Gómez‐Andrés, David, Verdura, Edgard, Katanaev, Vladimir L., Pérez‐Dueñas, Belén, Cancho Candela, Ramón, Martinez, Jorge Pantoja, Cáceres‐Marzal, Cristina, Martí Carrera, Itxaso, Duat‐Rodriguez, Ana, Camacho, Ana
Published in Movement disorders (01.09.2024)
Published in Movement disorders (01.09.2024)
Get full text
Journal Article
Toward an Automatic Assessment of Cognitive Dysfunction in Relapsing–Remitting Multiple Sclerosis Patients Using Eye Movement Analysis
García Cena, Cecilia E., Gómez-Andrés, David, Pulido-Valdeolivas, Irene, Sánchez-Seco, Victoria Galán, Domingo-Santos, Angela, Moreno-García, Sara, Benito-León, Julián
Published in Sensors (Basel, Switzerland) (27.10.2022)
Published in Sensors (Basel, Switzerland) (27.10.2022)
Get full text
Journal Article
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Germain, Dominique P., Richard, Pascale, Bulacio, Sebastian, Mompoint, Dominique, Quijano-Roy, Susana
Published in Muscle & nerve (01.11.2015)
Published in Muscle & nerve (01.11.2015)
Get full text
Journal Article
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published in Orphanet journal of rare diseases (12.08.2020)
Published in Orphanet journal of rare diseases (12.08.2020)
Get full text
Journal Article
Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement
Dabaj, Ivana, Carlier, Robert Y, Gómez‐Andrés, David, Neto, Osório Abath, Bertini, Enrico, D'amico, Adele, Fattori, Fabiana, PéRéon, Yann, Castiglioni, Claudia, Rodillo, Eliana, Catteruccia, Michela, Guimarães, júlio Brandão, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean‐François, Malfatti, Edoardo, Bonnemann, Carsten, Laporte, Jocelyn, Romero, Norma, Felter, Adrien, Quijano‐Roy, Susana, Moreno, Cristiane Araújo Martins, Zanoteli, Edmar
Published in Muscle & nerve (01.08.2018)
Published in Muscle & nerve (01.08.2018)
Get full text
Journal Article
Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests
Pulido-Valdeolivas, Irene, Gómez-Andrés, David, Martín-Gonzalo, Juan Andrés, Rodríguez-Andonaegui, Irene, López-López, Javier, Pascual-Pascual, Samuel Ignacio, Rausell, Estrella
Published in PloS one (08.03.2018)
Published in PloS one (08.03.2018)
Get full text
Journal Article
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up
GóMez‐Andrés, David, Díaz‐Manera, Jordi, Alejaldre, Aida, Pulido‐Valdeolivas, Irene, GonzáLez‐mera, Laura, Olivé, Montse, Vilchez, Juan José, De Munain, Adolfo LóPez, Paradas, Carmen, Muelas, Nuria, SáNchez‐MontáÑez, Ángel, Alonso‐Jimenez, Alicia, De la banda, Marta Gómez García, Dabaj, Ivana, Bonne, Gisèle, Munell, Francina, Carlier, Robert Y., Quijano‐Roy, Susana
Published in Muscle & nerve (01.12.2018)
Published in Muscle & nerve (01.12.2018)
Get full text
Journal Article
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy
Gómez-Andrés, David, Dabaj, Ivana, Mompoint, Dominique, Hankiewicz, Karolina, Azzi, Viviane, Ioos, Christine, Romero, Norma B., Ben Yaou, Rabah, Bergounioux, Jean, Bonne, Giséle, Richard, Pascale, Estournet, Brigitte, Yves-Carlier, Robert, Quijano-Roy, Susana
Published in Muscle & nerve (01.08.2016)
Published in Muscle & nerve (01.08.2016)
Get full text
Journal Article
Characterizing Normal and Pathological Gait through Permutation Entropy
Zanin, Massimiliano, Gómez-Andrés, David, Pulido-Valdeolivas, Irene, Martín-Gonzalo, Juan, López-López, Javier, Pascual-Pascual, Samuel, Rausell, Estrella
Published in Entropy (Basel, Switzerland) (01.01.2018)
Published in Entropy (Basel, Switzerland) (01.01.2018)
Get full text
Journal Article
Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer’s Dementia
Martín-Gonzalo, Juan-Andrés, Pulido-Valdeolivas, Irene, Wang, Yu, Wang, Ting, Chiclana-Actis, Guadalupe, Algarra-Lucas, Maria del Carmen, Palmí-Cortés, Itziar, Fernández Travieso, Jorge, Torrecillas-Narváez, Maria Dolores, Miralles-Martinez, Ambrosio A., Rausell, Estrella, Gómez-Andrés, David, Zanin, Massimiliano
Published in Entropy (Basel, Switzerland) (06.09.2019)
Published in Entropy (Basel, Switzerland) (06.09.2019)
Get full text
Journal Article
MYO-MRI diagnostic protocols in genetic myopathies
Warman Chardon, Jodi, Díaz-Manera, Jordi, Tasca, Giorgio, Bönnemann, Carsten G., Gómez-Andrés, David, Heerschap, Arend, Mercuri, Eugenio, Muntoni, Francesco, Pichiecchio, Anna, Ricci, Enzo, Walter, Maggie C., Hanna, Michael, Jungbluth, Heinz, Morrow, Jasper M., Fernández-Torrón, Roberto, Udd, Bjarne, Vissing, John, Yousry, Tarek, Quijano-Roy, Susana, Straub, Volker, Carlier, Robert Y
Published in Neuromuscular disorders : NMD (01.11.2019)
Published in Neuromuscular disorders : NMD (01.11.2019)
Get full text
Journal Article