Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Juan F. VÁzquez Costa"'
Autor:
Pablo Rebollo, Sofía García-López, Mónica Povedano, María G. Cattinari, Mercedes Martínez-Moreno, Ángeles Terrancle, Rosana Cabello-Moruno, Juan F. Vázquez-Costa
Publikováno v:
Neurology and Therapy, Vol 13, Iss 1, Pp 233-249 (2024)
Abstract Introduction The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation. Methods This prospective, non-interv
Externí odkaz:
https://doaj.org/article/0b03f80924064103907ba191eabe8030
Autor:
Juan F. Vázquez-Costa, María Branas-Pampillón, Julita Medina-Cantillo, Mónica Povedano, Inmaculada Pitarch-Castellano, Mercedes López-Lobato, Joaquín A. Fernández-Ramos, Miguel Lafuente-Hidalgo, Ricard Rojas-García, José M. Caballero-Caballero, Ignacio Málaga, Jesús Eirís-Puñal, Mencía De Lemus, María G. Cattinari, Rosana Cabello-Moruno, Paola Díaz-Abós, Victoria Sánchez-Menéndez, Pablo Rebollo, Jorge Maurino, Marcos Madruga-Garrido
Publikováno v:
Neurology and Therapy, Vol 12, Iss 1, Pp 89-105 (2022)
Abstract Introduction Outcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity. The aim of this study was to assess the psychometric properties of a set of existi
Externí odkaz:
https://doaj.org/article/9bfcddc000ee4147b49cc5667317fe56
Autor:
Maria A. Barceló, Mònica Povedano, Juan F. Vázquez-Costa, Álvaro Franquet, Marta Solans, Marc Saez
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract According to the degree of upper and lower motor neuron degeneration, motor neuron diseases (MND) can be categorized into amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) or progressive muscular atrophy (PMA). Although se
Externí odkaz:
https://doaj.org/article/387bff148acd424b99ffa096aeba15c8
Autor:
Juan F, Vázquez-Costa, Daniel, Borrego-Hernández, Carmen, Paradas, María Teresa, Gómez-Caravaca, Ricardo, Rojas-Garcia, Luis, Varona, Mónica, Povedano, Tania, García-Sobrino, Ivonne, Jericó Pascual, Antonio, Gutiérrez, Javier, Riancho, Janina, Turon-Sans, Abdelilah, Assialioui, Jordi, Pérez-Tur, Teresa, Sevilla, Jesús, Esteban Pérez, Alberto, García-Redondo
Publikováno v:
European Journal of Neurology. 30:861-871
The aim of this study is to describe the frequency and distribution of SOD1 mutations in Spain, and to explore those factors contributing to their phenotype and prognosis.Seventeen centres shared data on amyotrophic lateral sclerosis (ALS) patients c
Autor:
Marina Martínez-Molina, Herminia Argente-Escrig, Margarita F. Polo, David Hervás, Marina Frasquet, Victoria Cortés, Teresa Sevilla, Juan F. Vázquez-Costa
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Objective: To analyze those factors contributing to the diagnostic delay in ALS.Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center. Demographic and clinical variabl
Externí odkaz:
https://doaj.org/article/2e989a7e422a41f8bc462457a7d24f8f
Autor:
Juan F. Vázquez-Costa, José I. Tembl, Victoria Fornés-Ferrer, Fernando Cardona, Lluis Morales-Caba, Gerardo Fortea, Jordi Pérez-Tur, Teresa Sevilla
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascertain the contribution of dif
Externí odkaz:
https://doaj.org/article/3555605a4dcd4624b7689db86f00697a
Autor:
Michael Pulley, Mikko Kuoppamäki, Carolyn A Young, Jesus S. Mora Pardina, Kumaraswamy Sivakumar, Toni Sarapohja, Michael A. Elliott, Chafic Karam, Sandeep Rana, Orla Hardiman, Nathan P. Staff, Letizia Mazzini, Gabriele Mora, Thomas F. Meyer, Colleen O'Connell, Stéphanie Delstanche, Elham Bayat, Michael D. Weiss, Waqar Waheed, Nenad Mitrovic, Philippe Corcia, Marie-Hélène Soriani, Edward J. Kasarskis, Claudia Caponnetto, Dale J. Lange, Tuan Vu, Leo McCluskey, Berthold Schrank, Angela Genge, Matthew C. Kiernan, Valtteri V Aho, Manu Jokela, Philip Van Damme, Juan F. Vázquez Costa, Maurizio Inghilleri, Wolfgang Löscher, David Schultz, Tero Tapiola, Susanne Petri, Adriano Chiò, Gary L. Pattee, Julian Großkreutz, Ammar Al-Chalabi, Aziz Shaibani, Susan Mathers, Kevin J. Felice, Kimberly Goslin, James Caress, Matthias Boentert, Albert C. Ludolph, Aleksandar Radunovic, Robert D. Henderson, James Wymer, Todd Levine, Jakob Rath, Merrilee Needham, William Camu, Gaurav Guliani, Rune Johansson, Leonard H. van den Berg, Namita Goyal, Mark B. Bromberg, Bjorn Oskarsson, Annie Dionne, Eduardo Locatelli, Brent T. Harris, Suma Babu, Richard Bedlack, John Ravits, Jinsy A. Andrews, Philippe Couratier, Gabriele Siciliano, Hannu Laaksovirta, Kourosh Rezania, Lawrence Korngut, Eduardo Aguera Morales, Peter M Andersen, Eva Farrero Munoz, David Lacomis, Stephen N. Scelsa, Chris Garratt, Matthew Burford, Merit Cudkowicz, Nicholas J. Maragakis, Wendy Johnston, Martin M. Brown, Johannes Prudlo, Justin Y. Kwan, Dominic B. Fee, Senda Ajroud-Driss, Stephen A. Goutman, John Turnbull, Michael H. Rivner, Timothy M. Miller, Jan De Bleecker, Caroline Ingre, Luis Varona, Genevieve Matte, Daragh Heitzman, Robert Untucht, Lorne Zinman, Adam Quick, Jonathan S. Katz
Publikováno v:
The Lancet Neurology. 20:821-831
Summary Background There is an urgent unmet need for new therapies in amyotrophic lateral sclerosis. In a clinical study with healthy volunteers, levosimendan, a calcium sensitiser, was shown to improve neuromechanical efficiency and contractile func
Autor:
M. Frasquet-Carrera, Marina Martínez-Molina, Juan F. Vázquez-Costa, Victoria Fornés-Ferrer, T. Sevilla-Mantecón, M. Fernández-Polo
Publikováno v:
Neurología, Vol 36, Iss 7, Pp 504-513 (2021)
Resumen: Introducción: La esclerosis lateral amiotrófica (ELA) es una enfermedad insidiosa y clínicamente heterogénea, lo que resulta en un retraso diagnóstico de unos 12 meses. En España el trayecto diagnóstico no ha sido analizado. Métodos:
Autor:
Marina Martínez-Molina, Victoria Fornés-Ferrer, Juan F. Vázquez-Costa, T. Sevilla-Mantecón, M. Frasquet-Carrera, M. Fernández-Polo
Publikováno v:
Neurología (English Edition), Vol 36, Iss 7, Pp 504-513 (2021)
NEUROLOGIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
NEUROLOGIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Introduction: Amyotrophic lateral sclerosis (ALS) is an insidious, clinically heterogeneous neurodegenerative disease associated with a diagnostic delay of approximately 12 months. No study conducted to date has analysed the diagnostic pathway in Spa
Autor:
Vincenzo Lupo, Juan F. Vázquez-Costa, Carmen Espinós, Miguel Tomás-Vila, Teresa Sevilla, Inmaculada Pitarch, Herminia Argente-Escrig, Elvira Millet-Sancho, Marina Frasquet
Publikováno v:
Annals of Clinical and Translational Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)
Background Single-center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs). Methods Thoroug