Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
Frasquet, Marina, Rojas‐García, Ricard, Argente‐Escrig, Herminia, Vázquez‐Costa, Juan Francisco, Muelas, Nuria, Vílchez, Juan Jesús, Sivera, Rafael, Millet, Elvira, Barreiro, Marisa, Díaz‐Manera, Jordi, Turon‐Sans, Janina, Cortés‐Vicente, Elena, Querol, Luis, Ramírez‐Jiménez, Laura, Martínez‐Rubio, Dolores, Sánchez‐Monteagudo, Ana, Espinós, Carmen, Sevilla, Teresa, Lupo, Vincenzo
Published in European journal of neurology (01.04.2021)
Published in European journal of neurology (01.04.2021)
Get full text
Journal Article
Insights into phenotypic variability caused by GARS1 pathogenic variants
Jiménez‐Jiménez, Jesús, Navarrete, Irene, Azorín, Inmaculada, Martí, Pilar, Vílchez, Roger, Muelas, Nuria, Cabello‐Murgui, Javier, Millet, Elvira, Vázquez‐Costa, Juan Francisco, Vílchez, Juan J., Sevilla, Teresa, Sivera, Rafael
Published in European journal of neurology (01.10.2024)
Published in European journal of neurology (01.10.2024)
Get full text
Journal Article
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain
Sivera, Rafael, Lupo, Vincenzo, Frasquet, Marina, Argente‐Escrig, Herminia, Alonso‐Pérez, Jorge, Díaz‐Manera, Jordi, Querol, Luis, Mar García‐Romero, María, Ignacio Pascual, Samuel, García‐Sobrino, Tania, Paradas, Carmen, Francisco Vázquez‐Costa, Juan, Muelas, Nuria, Millet, Elvira, Jesús Vílchez, Juan, Espinós, Carmen, Sevilla, Teresa
Published in European journal of neurology (01.09.2021)
Published in European journal of neurology (01.09.2021)
Get full text
Journal Article
Urodynamic findings in amyotrophic lateral sclerosis patients with lower urinary tract symptoms: Results from a pilot study
Arlandis, Salvador, Vázquez‐Costa, Juan Francisco, Martínez‐Cuenca, Esther, Sevilla, Teresa, Boronat, Francisco, Broseta, Enrique
Published in Neurourology and urodynamics (01.03.2017)
Published in Neurourology and urodynamics (01.03.2017)
Get full text
Journal Article
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente‐Escrig, Herminia, Frasquet, Marina, Vázquez‐Costa, Juan Francisco, Millet‐Sancho, Elvira, Pitarch, Inmaculada, Tomás‐Vila, Miguel, Espinós, Carmen, Lupo, Vincenzo, Sevilla, Teresa
Published in Annals of clinical and translational neurology (01.09.2021)
Published in Annals of clinical and translational neurology (01.09.2021)
Get full text
Journal Article
Injectable borax-loaded alginate hydrogels reduce muscle atrophy, modulate inflammation, and promote neuroprotection in the SOD1G93A mouse model of ALS through mechanisms involving IGF–Akt–mTOR signaling
Rodriguez-Romano, Ana, Gonzalez-Valdivieso, Juan, Moreno-Martinez, Laura, Vázquez Costa, Juan Francisco, Osta, Rosario, Rico, Patricia
Published in International journal of biological macromolecules (01.08.2025)
Published in International journal of biological macromolecules (01.08.2025)
Get full text
Journal Article
Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers
Cattinari, Maria Grazia, Pascual-Pascual, Samuel Ignacio, de Lemus, Mencía, Medina, Julita, Dumont, María, Rebollo, Pablo, Vázquez-Costa, Juan Francisco
Published in Orphanet journal of rare diseases (04.06.2025)
Published in Orphanet journal of rare diseases (04.06.2025)
Get full text
Journal Article
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
Dou, John, Bakulski, Kelly, Guo, Kai, Hur, Junguk, Zhao, Lili, Saez-Atienzar, Sara, Stark, Ali, Chia, Ruth, García-Redondo, Alberto, Rojas-Garcia, Ricardo, Vázquez Costa, Juan Francisco, Fernandez Santiago, Ruben, Bandres-Ciga, Sara, Gómez-Garre, Pilar, Periñán, Maria Teresa, Mir, Pablo, Pérez-Tur, Jordi, Cardona, Fernando, Menendez-Gonzalez, Manuel, Riancho, Javier, Borrego-Hernández, Daniel, Galán-Dávila, Lucia, Infante Ceberio, Jon, Pastor, Pau, Paradas, Carmen, Dols-Icardo, Oriol, Traynor, Bryan J., Feldman, Eva L., Goutman, Stephen A., P´erez, Jes´us Esteban, V´azquez, Pilar Cordero, Teresa, Sevilla, L´opez de Munain, Adolfo, Fern´andez, Julio Pardo, Pascual, Ivonne Jeric´o-, Mantius, Ellen Gelpi, Hoenicka, Janet, Martinez, Victoria Alvarez, Rodr´ıguez de Rivera Garrido, Francisco Javier, Beyer, Katrin, Echevarr´ıa, Jordi Clarim´on
Published in Neurology. Genetics (01.08.2023)
Published in Neurology. Genetics (01.08.2023)
Get full text
Journal Article
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
Borrego-Hernández, Daniel, Vázquez-Costa, Juan Francisco, Domínguez-Rubio, Raúl, Expósito-Blázquez, Laura, Aller, Elena, Padró-Miquel, Ariadna, García-Casanova, Pilar, Colomina, María J., Martín-Arriscado, Cristina, Osta, Rosario, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, Povedano-Panadés, Mónica, García-Redondo, Alberto
Published in Biomedicines (02.02.2024)
Published in Biomedicines (02.02.2024)
Get full text
Journal Article
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
Vázquez-Costa, Juan Francisco, Payá-Montes, María, Martínez-Molina, Marina, Jaijo, Teresa, Szymanski, Jazek, Mazón, Miguel, Sopena-Novales, Pablo, Pérez-Tur, Jordi, Sevilla, Teresa
Published in Frontiers in molecular neuroscience (30.08.2021)
Published in Frontiers in molecular neuroscience (30.08.2021)
Get full text
Journal Article
Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to ‘Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R’ published in Vol. 24(3–4), pp. 311–316
Vázquez-Costa, Juan Francisco
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2024)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2024)
Get full text
Journal Article
Evaluation of the substantia nigra by means of transcranial ultrasound imaging
Vivo-Orti, María Nieves, Tembl, José Ignacio, Sastre-Bataller, Isabel, Vazquez-Costa, Juan Francisco, Sahuquillo, Patricia, Burguera, Juan Andrés
Published in Revista de neurologiá (01.03.2013)
Published in Revista de neurologiá (01.03.2013)
Get full text
Journal Article
Machine learning diagnostic model for amyotrophic lateral sclerosis analysis using MRI-derived features
Gil Chong, Pablo, Mazon, Miguel, Cerdá-Alberich, Leonor, Beser Robles, Maria, Carot, José Miguel, Vázquez-Costa, Juan Francisco, Martí-Bonmatí, Luis
Published in Neuroradiology (08.08.2025)
Published in Neuroradiology (08.08.2025)
Get full text
Journal Article
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Frasquet, Marina, Lupo, Vincenzo, Chumillas, María José, Vázquez-Costa, Juan Francisco, Espinós, Carmen, Sevilla, Teresa
Published in Journal of the neurological sciences (15.04.2018)
Published in Journal of the neurological sciences (15.04.2018)
Get full text
Journal Article
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
Andrés-Benito, Pol, Vázquez-Costa, Juan Francisco, Ñungo Garzón, Nancy Carolina, Colomina, María J., Marco, Carla, González, Laura, Terrafeta, Cristina, Domínguez, Raúl, Ferrer, Isidro, Povedano, Mónica
Published in International journal of molecular sciences (01.04.2024)
Published in International journal of molecular sciences (01.04.2024)
Get full text
Journal Article
Handling of drugs for administration by percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis and enteral nutrition
Vázquez Polo, Amparo, López Briz, Eduardo, Poveda Andrés, José Luís, Vázquez Costa, Juan Francisco
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (25.08.2022)
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (25.08.2022)
Get full text
Journal Article
Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder
Vázquez-Costa, Juan Francisco, Arlandis, Salvador, Hervas, David, Martínez-Cuenca, Esther, Cardona, Fernando, Pérez-Tur, Jordi, Broseta, Enrique, Sevilla, Teresa
Published in Journal of the neurological sciences (15.07.2017)
Published in Journal of the neurological sciences (15.07.2017)
Get full text
Journal Article
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Lupo, Vincenzo, Frasquet, Marina, Sánchez-Monteagudo, Ana, Pelayo-Negro, Ana Lara, García-Sobrino, Tania, Sedano, María José, Pardo, Julio, Misiego, Mercedes, García-García, Jorge, Sobrido, María Jesús, Martínez-Rubio, María Dolores, Chumillas, María José, Vílchez, Juan Jesús, Vázquez-Costa, Juan Francisco, Espinós, Carmen, Sevilla, Teresa
Published in Journal of medical genetics (01.12.2018)
Published in Journal of medical genetics (01.12.2018)
Get full text
Journal Article