Zobrazeno 1 - 10
of 490
pro vyhledávání: '"José, Berciano"'
Publikováno v:
Case Reports in Neurology (2024)
Introduction. Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case, an
Externí odkaz:
https://doaj.org/article/8e803bdcfe7f44d4879dc3794e894c76
Autor:
Cinta Lleixà, Lorena Martín-Aguilar, Elba Pascual-Goñi, Teresa Franco, Marta Caballero, Noemí de Luna, Eduard Gallardo, Xavier Suárez-Calvet, Laura Martínez-Martínez, Jordi Diaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Joana Turón, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez-Gutiérrez, María Concepción Jimeno-Montero, José Berciano, Maria José Sedano-Tous, Tania García-Sobrino, Julio Pardo-Fernández, Celedonio Márquez-Infante, Iñigo Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez-Hernández, Germán Morís de la Tassa, Cristina Domínguez-González, Cándido Juárez, Isabel Illa, Luis Querol
Publikováno v:
Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-13 (2021)
Abstract Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substa
Externí odkaz:
https://doaj.org/article/4683d496544444ce8ced3a1c5a156d32
Autor:
José Gazulla, Silvia Izquierdo-Alvarez, Emilio Ruiz-Fernández, Alba Lázaro-Romero, José Berciano
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 2, Pp 347-354 (2021)
Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G va
Externí odkaz:
https://doaj.org/article/328eb3229eeb4e5ba26f3f73a8e986ef
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 2, Pp 414-421 (2021)
Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or l
Externí odkaz:
https://doaj.org/article/34c207ee6d8b4bd98e81208bc1de2062
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by
Externí odkaz:
https://doaj.org/article/ce39a702080648d289723b9620a8e877
Autor:
José Berciano, Pedro Orizaola, Elena Gallardo, Ana L. Pelayo-Negro, Pascual Sánchez-Juan, Jon Infante, María J. Sedano
Publikováno v:
Clinical Neurophysiology Practice, Vol 5, Iss , Pp 1-9 (2020)
Objectives: Using recent optimized electrodiagnostic criteria sets, we primarily aimed at verifying the accuracy of the initial electrophysiological test in very early Guillain-Barré syndrome (VEGBS), ≤4 days of onset, compared with the results of
Externí odkaz:
https://doaj.org/article/38b120c5a66f4199882261b4fc8e5269
Publikováno v:
Clinical Neurophysiology Practice, Vol 3, Iss , Pp 159-163 (2018)
Objective: To describe the case of a patient with Guillain-Barré syndrome (GBS) showing early reversible conduction failure (RCF) detected by means of serial deep tendon reflex response (T-reflex) study. Methods: A 36-year-old woman had a 5-day hist
Externí odkaz:
https://doaj.org/article/2733271d82c1457495fd23bd8349ef2d
Publikováno v:
Clinical Neurophysiology Practice, Vol 6, Iss , Pp 133-134 (2021)
Externí odkaz:
https://doaj.org/article/1354ba69a46f4af8a7aca953e9c14eab
Autor:
Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Abstract Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicent
Externí odkaz:
https://doaj.org/article/0faa7f5c1e624b5b885d1c7b72e34039
Autor:
José Berciano
Publikováno v:
Neurología. 37:466-479
Resumen Introduccion El sindrome de Guillain-Barre (SGB) es un trastorno agudo e inmuno-mediado del sistema nervioso periferico. Sus dos subtipos basicos son el desmielinizante (AIDP) y el axonal (AMAN). El objetivo de este trabajo es abordar los mec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66bdc3bb5308a41d77111b50594f7796
https://doi.org/10.1016/j.nrl.2018.06.002
https://doi.org/10.1016/j.nrl.2018.06.002