A. López de Munain
Instituto de Salud Carlos III
Publications 54
We have performed a complete screening of the Parkin gene (PRKN2) and looked for p.Gly2019Ser (G2019S) and p.Arg1441Gly (R1441G) LRRK2/dardarin gene mutations in twenty seven patients with Parkinson’s disease (PD) with an age at onset younger than 50 years (EOPD), living in Gipuzkoa (Basque Country, Spain). Thirteen of them (48%) were PRKN2 mutation carriers. The c.255256DelA mutation was the most frequent, followed by a deletion involving exons 3 and 4. A deletion involving exons 3 and 12 of th...
#1Maider Muñoz-CullaH-Index: 12
#2Haritz IrizarH-Index: 8
Last.David OtaeguiH-Index: 26
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Background:Natalizumab has shown its efficacy in reducing multiple sclerosis (MS) relapses and progression of disability; however, it has been associated with an increased risk of developing progressive multifocal leukoencephalopathy (PML). The differential expression of microRNA (miRNA), the small non-coding RNAs that regulate gene expression, in natalizumab-treated patients has been reported and miRNA have also been described as good candidates for disease biomarkers.Objective:To characterize ...
33 CitationsSource
#1A. Estanga (UPV/EHU: University of the Basque Country)H-Index: 1
#2Maria C. Rodriguez-Oroz (Ikerbasque)H-Index: 33
Last.José Félix Martí Massó (UPV/EHU: University of the Basque Country)H-Index: 16
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Objective: The neuropsychological characteristics of patients with Parkinson's Disease (PD) associated with R1441G mutation in the LRRK2 gene (R1441G-PD) are not well known. The aim of this study was to examine the cognitive status and mood of R1441G-PD patients. Methods: Thirty patients with R1441G-PD were compared with thirty idiopathic PD (i-PD) patients who were matched by age, sex, education, disease onset age and duration, using a comprehensive battery of neuropsychological test, and consi...
11 CitationsSource
#1Ana M. Gómez-Úriz (University of Navarra)H-Index: 6
Last.A. López de MunainH-Index: 24
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Some causal bases of stroke remain unclear, but the nutritional effects on the epigenetic regulation of different genes may be involved. The aim was to assess the impact of epigenetic processes of human tumor necrosis factor (TNF-α) and paraoxonase (PON) promoters in the susceptibility to stroke when considering body composition and dietary intake. Twenty-four patients (12 non-stroke/12 stroke) were matched by sex (12 male/12 female), age (mean 70 ± 12 years old), and BMI (12 normal-weight/12 ob...
16 CitationsSource
#1R. Fernández-Torrón (ISCIII: Instituto de Salud Carlos III)
Last.A. López de Munain (ISCIII: Instituto de Salud Carlos III)H-Index: 24
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#2Eliecer CotoH-Index: 47
Last.Victoria AlvarezH-Index: 43
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Sanchez-Ferrero E, Coto E, Beetz C, Gamez J, Corao A, Diaz M, Esteban J, del Castillo E, Moris G, Infante J, Menendez M, Pascual-Pascual SI, Lopez de Munain A, Garcia-Barcina MJ, Alvarez V on behalf of the Genetics of Spastic Paraplegia study group. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. Mutations in the SPG7 gene were initially reported in patients with autosomal recessive hereditary spastic parap...
46 CitationsSource
#1Maider Muñoz-CullaH-Index: 12
#2Haritz IrizarH-Index: 8
Last.David OtaeguiH-Index: 26
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Objective: Study the miRNA expression of MS patients both during the relapse and remission in order to find differences between the two states of the disease. Background Regulation of the gene expression is complex and several mechanisms are involved. One of those mechanisms is the post-transcriptional regulation performed by microRNAs (miRNAs). They are involved in several biological processes and consequently their deregulation might affect different pathways. Understanding the expression regu...
#1Murray Krahn (French Institute of Health and Medical Research)H-Index: 6
#2M. GoicoecheaH-Index: 9
Last.A. López de MunainH-Index: 24
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10 CitationsSource
#1Alexandre Savio (Grupo México)H-Index: 15
#2Maite García-Sebastián (Grupo México)H-Index: 10
Last.Jorge VillanuaH-Index: 9
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Dementia is a growing concern due to the aging process of the western societies. Non-invasive detection is therefore a high priority research endeavor. In this paper we report results of classification systems applied to the feature vectors obtained by a feature extraction method computed on structural magnetic resonance imaging (sMRI) volumes for the detection of two neurological disorders with cognitive impairment: myotonic dystrophy of type 1 (MD1) and Alzheimer disease (AD). The feature extr...
36 CitationsSource
#1P. de la RivaH-Index: 1
Last.A. López de Munain (ISCIII: Instituto de Salud Carlos III)H-Index: 24
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