BackBrowsing by Author "López de Munain Arregui, Adolfo José"
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Differential Micro RNA Expression in PBMC from Multiple Sclerosis Patients
; ; ; Calvo Molinos, Borja
; ; ; Inza Cano, Iñaki ; ; ; ; ; (Public Library of Science, 2009-07-20)
Differences in gene expression patterns have been documented not only in Multiple Sclerosis patients versus healthy controls but also in the relapse of the disease. Recently a new gene expression modulator has been identified: ... -
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
(Wiley, 2022-02)[EN] Objective: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. Methods: ... -
Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome
; ; ; ; ; ; ; Lafuente Sánchez, José Vicente; ; ; ; ; ; ; ; (BMC, 2023)
Background Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and post-COVID condition can present similarities such as fatigue, brain fog, autonomic and neuropathic symptoms. Methods The study included 87 ... -
Dysautonomia in COVID-19 Patients: A Narrative Review on Clinical Course, Diagnostic and Therapeutic Strategies
(Frontiers Media, 2022-05)IntroductionOn March 11, 2020, the World Health Organization sounded the COVID-19 pandemic alarm. While efforts in the first few months focused on reducing the mortality of infected patients, there is increasing data on ... -
Effect of novel ryanodine receptor modulators in mouse and human models of Duchenne muscular dystrophy
(2017-05-31)La distrofia muscular de Duchenne (DMD) es una enfermedad hereditaria ligada al cromosoma X queafecta a uno de cada 3500 varones. Esta enfermedad se caracteriza por la degeneración progresiva de lasfibras musculares que ... -
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
(Wolters Kluwer Health, 2022-12)Background:Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol ... -
Enfermedad de Parkinson por mutación vasca de la dardarina (LRRK2): estudio epidemiológico, clínico y genético
(Servicio Editorial de la Universidad del País Vasco/Euskal Herriko Unibertsitatearen Argitalpen Zerbitzua, 2012-06-22)La genética ha cobrado un papel primordial en la etiopatogenia de la enfermedad de Parkinson (EP), especialmente tras el descrubrimiento en 2004 de las primeras mutaciones en el gen LRRK2, que codifica la proteína denominada ... -
Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients, and healthy controls
(Frontiers Research Foundation, 2014-07-15)Alpha-synuclein (Snca) plays a major role in Parkinson disease (PD). Circulating anti-Snca antibodies has been described in PD patients and healthy controls, but they have been poorly characterized. This study was designed ... -
Estudio del mecanismo subyacente en la deficiencia miogénica en modelo celular de ELA y su implicación en la regeneración muscular.
(2019-01-15)[SPA] La Esclerosis Lateral Amiotrófica (ELA), también conocida como Enfermedad de Lou Gehrig15, Enfermedad de Charcot13,15,16,17 en Francia, o genéricamente EMN (Enfermedad de motoneurona) es una enfermedad neurodegenerativa ... -
Estudio del metabolismo de la glucosa en pacientes con esclerosis lateral amiotrófica
(2019-01-15)[ES] La esclerosis lateral amiotrófica (ELA), es un trastorno neurodegenerativo que afecta a las motoneuronas a nivel cerebral, troncal y espinal, causando debilidad y atrofia muscular progresiva y finalmente, la muerte. ... -
Estudio del metabolismo energético muscular en la Esclerosis Lateral Amiotrófica
(2020-06-16)La esclerosis lateral amiotrófica (ELA) es una enfermedad degenerativa de las motoneuronas que produce un debilitamiento muscular gradual hasta ocasionar parálisis y muerte mientras el paciente es consciente de esta ... -
Estudio longitudinal y caracterización cognitiva de portadores de la mutación C.709-1G>A en el gen de la Progranulina
(2016-10-28)La Demencia Frontotemporal (DFT) engloba a un grupo de enfermedades neurodegenerativas clínica y neuropatológicamente heterogéneas, que afectan a los lóbulosfrontales y temporales, y cuyos síntomas principales son alteraciones ... -
Estudio retrospectivo sobre el uso del sulpiride en la comarca de Donostialdea. Indicaciones y efectos adversos
(2019-01-15)[ES] Los estudios sobre evaluación de prescripciones en ancianos son relativamente frecuentes en España pero los riesgos que derivan de estas prescripciones pasan a menudo desatendidos. Como consecuencia, la incidencia de ... -
Evolución del diagnóstico molecular de la distrofia facioescapulohumeral: la historia (inacabada) de una cohorte histórica
(2021-06-23)La distrofia facioescapulohumeral (DFEH1, OMIM 158900) es la tercera enfermedad muscular más común, después de la distrofia de Duchenne y la distrofia miotónica, (Padberg, 1982) cuya prevalencia se estima en 1:20.000 ... -
Expression Profiling Analysis Reveals Key MicroRNA– mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa
(Association Research Vision Ophthalmology, 2018-05)PURPOSE. The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 ... -
FRZB gene expression regulation in vitro to restore muscle fibre homeostasis in limb-girdle muscular dystrophy type 2A (LGMD2A) and Frzb-/- murine model muscle analysis.
(2018-09-26)Este trabajo se centra en el estudio de la distrofia muscular de cinturas tipo 2A (LGMD2A) causada por mutaciones en el gen de la calpaina 3. El trabajo ha sido enfocado en el estudio a nivel celular y molecular de esta ... -
Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A
; ; ; ; ; Inza Cano, Iñaki; ; ; ; ; ; ; ; ; (Public Library of Science, 2008-11-18)
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Calpain 3 plays different roles in muscular cells, but little is known about its functions or in ... -
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
; ; ; ; Martínez de Pancorbo Gómez, María de los Angeles; (Elsevier Science INC, 2019-10)
Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a ... -
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
(Springer, 2022-11)Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European ... -
Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
(Elsevier, 2020-04)Background and objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues ...