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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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Journal Article
Spontaneous ARIA-like Events in Cerebral Amyloid Angiopathy-Related Inflammation: A Multicenter Prospective Longitudinal Cohort Study
Antolini, Laura, DiFrancesco, Jacopo C, Zedde, Marialuisa, Basso, Gianpaolo, Arighi, Andrea, Shima, Atsushi, Cagnin, Annachiara, Caulo, Massimo, Carare, Roxana O, Charidimou, Andreas, Cirillo, Mario, Di Lazzaro, Vincenzo, Ferrarese, Carlo, Giossi, Alessia, Inzitari, Domenico, Marcon, Michela, Marconi, Roberto, Ihara, Masafumi, Nitrini, Ricardo, Orlandi, Berardino, Padovani, Alessandro, Pascarella, Rosario, Perini, Francesco, Perini, Giulia, Sessa, Maria, Scarpini, Elio, Tagliavini, Fabrizio, Valenti, Raffaella, Vázquez-Costa, Juan Francisco, Villarejo-Galende, Alberto, Hagiwara, Yuta, Ziliotto, Nicole, Piazza, Fabrizio
Published in Neurology (02.11.2021)
Published in Neurology (02.11.2021)
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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)
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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)
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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)
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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)
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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)
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Journal Article
Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
Vázquez-Costa, Juan Francisco, Pedrola Vidal, Laia, Moreau-Le Lan, Sarah, Teresí-Copoví, Irene, Frasquet, Marina, Chumillas, Maria J., Sevilla, Teresa
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2019)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2019)
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Journal Article
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Baviera-Muñoz, Raquel, Carretero-Vilarroig, Lidón, Vázquez-Costa, Juan Francisco, Morata-Martínez, Carlos, Campins-Romeu, Marina, Muelas, Nuria, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Pérez-García, Julia, Sivera, Rafael, Sevilla, Teresa, Vilchez, Juan J, Jaijo, Teresa, Espinós, Carmen, Millán, Jose M, Bataller, Luis, Aller, Elena
Published in Neurology. Genetics (01.12.2022)
Published in Neurology. Genetics (01.12.2022)
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Journal Article
Manipulación de fármacos para su administración por gastrostomía endoscópica percutánea en pacientes con esclerosis lateral amiotrófica y nutrición enteral
Vázquez-Polo, Amparo, López-Briz, Eduardo, Poveda-Andrés, José Luis, Vázquez-Costa, Juan Francisco
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01.08.2022)
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01.08.2022)
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