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A. López de Munain
Instituto de Salud Carlos III
Publications 52
Published on Jan 1, 2015in Journal of Behavioral and Brain Science
J. F. Martí Massó9
Estimated H-index: 9
Javier Ruiz-Martínez19
Estimated H-index: 19
+ 6 AuthorsSan Sebastián
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...
Published on Dec 1, 2014in Multiple Sclerosis Journal 5.65
Maider Muñoz-Culla12
Estimated H-index: 12
Haritz Irizar8
Estimated H-index: 8
+ 7 AuthorsDavid Otaegui25
Estimated H-index: 25
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 ...
Published on Oct 1, 2014in Parkinsonism & Related Disorders 4.36
A. Estanga1
Estimated H-index: 1
(UPV/EHU: University of the Basque Country),
Maria C. Rodriguez-Oroz32
Estimated H-index: 32
+ 6 AuthorsJosé Félix Martí Massó13
Estimated H-index: 13
(UPV/EHU: University of the Basque Country)
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...
Published on Jun 1, 2014in Journal of Physiology and Biochemistry 2.52
Ana M. Gómez-Úriz6
Estimated H-index: 6
(University of Navarra),
E. Goyenechea18
Estimated H-index: 18
+ 7 AuthorsA. López de Munain23
Estimated H-index: 23
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...
Published on Oct 1, 2013in Journal of the Neurological Sciences 2.65
R. Fernández-Torrón (ISCIII: Instituto de Salud Carlos III), A. Guisasola + 7 AuthorsA. López de Munain23
Estimated H-index: 23
(ISCIII: Instituto de Salud Carlos III)
Published on Mar 1, 2013in Clinical Genetics 4.10
Elena Sánchez-Ferrero5
Estimated H-index: 5
Eliecer Coto45
Estimated H-index: 45
+ 12 AuthorsJon Infante33
Estimated H-index: 33
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...
Published on Apr 24, 2012in Neurology 8.69
Maider Muñoz-Culla12
Estimated H-index: 12
Haritz Irizar8
Estimated H-index: 8
+ 4 AuthorsD. Otaegui8
Estimated H-index: 8
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...
Published on Oct 1, 2011in Clinical Genetics 4.10
Murray Krahn4
Estimated H-index: 4
(French Institute of Health and Medical Research),
M. Goicoechea8
Estimated H-index: 8
+ 14 AuthorsJohannes Alexander Lobrinus12
Estimated H-index: 12
Published on Aug 1, 2011in Computers in Biology and Medicine 2.29
Alexandre Savio13
Estimated H-index: 13
(Grupo México),
Maite García-Sebastián9
Estimated H-index: 9
(Grupo México)
+ 5 AuthorsJorge Villanua8
Estimated H-index: 8
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...
Published on Jul 1, 2011in Biochimica et Biophysica Acta 3.79
Claire-Marie Dhaenens15
Estimated H-index: 15
(French Institute of Health and Medical Research),
Hélène Tran9
Estimated H-index: 9
(French Institute of Health and Medical Research)
+ 18 AuthorsHélène Obriot10
Estimated H-index: 10
(French Institute of Health and Medical Research)
Abstract Tau is the proteinaceous component of intraneuronal aggregates common to neurodegenerative diseases called Tauopathies, including myotonic dystrophy type 1. In myotonic dystrophy type 1, the presence of microtubule-associated protein Tau aggregates is associated with a mis-splicing of Tau. A toxic gain-of-function at the ribonucleic acid level is a major etiological factor responsible for the mis-splicing of several transcripts in myotonic dystrophy type 1. These are probably the conseq...