Search Results - "Vázquez Costa, Juan Francisco"

Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation by 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

“…Background and purpose Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component…”
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Insights into phenotypic variability caused by GARS1 pathogenic variants by 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

“…Background and Purpose Pathogenic variants of the glycyl‐tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot–Marie–Tooth disease type 2D,…”
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Urodynamic findings in amyotrophic lateral sclerosis patients with lower urinary tract symptoms: Results from a pilot study by Arlandis, Salvador, Vázquez‐Costa, Juan Francisco, Martínez‐Cuenca, Esther, Sevilla, Teresa, Boronat, Francisco, Broseta, Enrique

“…Aims To determine lower urinary tract symptoms (LUTS) prevalence and urodynamic findings in amyotrophic lateral sclerosis (ALS) patients treated in our…”
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Charcot–Marie–Tooth disease due to MORC2 mutations in Spain by 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

“…Background and purpose MORC2 mutations have been described as a rare cause of axonal Charcot–Marie–Tooth disease (CMT2Z). The aim of this work was to determine…”
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Risdiplam in non‐sitter patients aged 16 years and older with 5q spinal muscular atrophy by Ñungo Garzón, Nancy Carolina, Pitarch Castellano, Inmaculada, Sevilla, Teresa, Vázquez‐Costa, Juan Francisco

“…Introduction/Aims Risdiplam has been approved for the treatment of patients with 5q spinal muscular atrophy (SMA), but data from type 2 non‐sitter patients are…”
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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center by Argente‐Escrig, Herminia, Frasquet, Marina, Vázquez‐Costa, Juan Francisco, Millet‐Sancho, Elvira, Pitarch, Inmaculada, Tomás‐Vila, Miguel, Espinós, Carmen, Lupo, Vincenzo, Sevilla, Teresa

“…Background Single‐center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such…”
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Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen by 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

“…The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to…”
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Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome by Vázquez-Costa, Juan Francisco, Payá-Montes, María, Martínez-Molina, Marina, Jaijo, Teresa, Szymanski, Jazek, Mazón, Miguel, Sopena-Novales, Pablo, Pérez-Tur, Jordi, Sevilla, Teresa

“…Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis…”
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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population by 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

“…Intermediate CAG expansions in the gene ataxin-2 ( ) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their…”
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Imaging Biomarkers for the Diagnosis and Prognosis of Neurodegenerative Diseases. The Example of Amyotrophic Lateral Sclerosis by Mazón, Miguel, Vázquez Costa, Juan Francisco, Ten-Esteve, Amadeo, Martí-Bonmatí, Luis

“…The term amyotrophic lateral sclerosis (ALS) comprises a heterogeneous group of fatal neurodegenerative disorders of largely unknown etiology characterized by…”
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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 by Vázquez-Costa, Juan Francisco

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Spontaneous ARIA-like Events in Cerebral Amyloid Angiopathy–Related Inflammation: A Multicenter Prospective Longitudinal Cohort Study by Antolini, Laura, DiFrancesco, Jacopo C., Zedde, Marialuisa, Basso, Gianpaolo, Arighi, Andrea, Shima, Atsushi, Cagnin, Annachiara, Caulo, Massimo, Carare, Roxana, 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

“…The goal of this work was to investigate the natural history and outcomes after treatment for spontaneous amyloid-related imaging abnormalities (ARIA)-like in…”
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Evaluation of the substantia nigra by means of transcranial ultrasound imaging by Vivo-Orti, María Nieves, Tembl, José Ignacio, Sastre-Bataller, Isabel, Vazquez-Costa, Juan Francisco, Sahuquillo, Patricia, Burguera, Juan Andrés

“…AIM. To describe the prevalence of hyperechogenicity of the substantia nigra in two samples of patients: one group who had been diagnosed with Parkinson's…”
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Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene by Frasquet, Marina, Lupo, Vincenzo, Chumillas, María José, Vázquez-Costa, Juan Francisco, Espinós, Carmen, Sevilla, Teresa

“…PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by…”
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Handling of drugs for administration by percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis and enteral nutrition by Vázquez Polo, Amparo, López Briz, Eduardo, Poveda Andrés, José Luís, Vázquez Costa, Juan Francisco

“…amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. Its symptoms include dysphagia that may make it necessary to place a percutaneous…”
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Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder by Vázquez-Costa, Juan Francisco, Arlandis, Salvador, Hervas, David, Martínez-Cuenca, Esther, Cardona, Fernando, Pérez-Tur, Jordi, Broseta, Enrique, Sevilla, Teresa

“…Abstract Introduction Lower urinary tract symptoms (LUTS) are frequent in motor neuron disease (MND) patients, but clinical factors related to them are…”
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Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin? by Vázquez-Costa, Juan Francisco, Pedrola Vidal, Laia, Moreau-Le Lan, Sarah, Teresí-Copoví, Irene, Frasquet, Marina, Chumillas, Maria J., Sevilla, Teresa

“…Objective: To describe a patient with facial onset sensory and motor neuronopathy (FOSMN) carrying heterozygous mutations in both TARDBP and SQSTM1 genes…”
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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain by 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

“…To determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of…”
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Manipulación de fármacos para su administración por gastrostomía endoscópica percutánea en pacientes con esclerosis lateral amiotrófica y nutrición enteral by Vázquez-Polo, Amparo, López-Briz, Eduardo, Poveda-Andrés, José Luis, Vázquez-Costa, Juan Francisco

“…Resumen Introducción: la esclerosis lateral amiotrófica (ELA) es una enfermedad neurodegenerativa. Entre sus síntomas destaca la disfagia, que hace necesaria…”
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Quantitative Muscle Ultrasonography Using Textural Analysis in Amyotrophic Lateral Sclerosis by Martínez-Payá, Jacinto Javier, Ríos-Díaz, José, del Baño-Aledo, María Elena, Tembl-Ferrairó, Jose Ignacio, Vazquez-Costa, Juan Francisco, Medina-Mirapeix, Francesc

“…The purpose of this study was to analyze differences in gray-level co-occurrence matrix (GLCM) parameters, as assessed by muscle ultrasound (MUS), between…”
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