Search Results - "BARCELO, M. J"

Enhancing resonant circular-section haloscopes for dark matter axion detection: approaches and limitations in volume expansion by García-Barceló, J. M., Díaz-Morcillo, A., Gimeno, B.

“…A bstract Haloscopes, microwave resonant cavities utilized in detecting dark matter axions within powerful static magnetic fields, are pivotal in modern…”
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Methods and restrictions to increase the volume of resonant rectangular-section haloscopes for detecting dark matter axions by García-Barceló, J. M., Álvarez Melcón, A., Díaz-Morcillo, A., Gimeno, B., Lozano-Guerrero, A. J., Monzó-Cabrera, J., Navarro-Madrid, J. R., Navarro, P.

“…A bstract Haloscopes are resonant cavities that serve as detectors of dark matter axions when they are immersed in a strong static magnetic field. In order to…”
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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor by Bernal, S, Alías, L, Barceló, M J, Also-Rallo, E, Martínez-Hernández, R, Gámez, J, Guillén-Navarro, E, Rosell, J, Hernando, I, Rodríguez-Alvarez, F J, Borrego, S, Millán, J M, Hernández-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, E F

“…Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene…”
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Thin Film (High Temperature) Superconducting Radiofrequency Cavities for the Search of Axion Dark Matter by Golm, J., Arguedas Cuendis, S., Calatroni, S., Cogollos, C., Dobrich, B., Gallego, J.D., Garcia Barcelo, J.M., Granados, X., Gutierrez, J., Irastorza, I.G., Koettig, T., Lamas, N., Liberadzka-Porret, J., Malbrunot, C., Millar, W.L., Navarro, P., Carlos, C.P.A., Puig, T., Rosaz, G.J., Siodlaczek, M., Telles, G., Wuensch, W.

“…The axion is a hypothetical particle which is a candidate for cold dark matter. Haloscope experiments directly search for these particles in strong magnetic…”
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On the development of new tuning and inter-coupling techniques using ferroelectric materials in the detection of dark matter axions by Garcia-Barcelo, J. M., Alvarez Melcon, A., Arguedas Cuendis, S., Diaz-Morcillo, A., Gimeno, B., Kanareykin, A., Lozano-Guerrero, A. J., Navarro, P., Wuensch, W.

“…Tuning is an essential requirement for the search of dark matter axions employing haloscopes since its mass is not known yet to the scientific community. At…”
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Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene by Alías, L., Barceló, M.J., Bernal, S., Martínez-Hernández, R., Also-Rallo, E., Vázquez, C., Santana, A., Millán, J.M., Baiget, M., Tizzano, E.F.

“…Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (SMN1). Global carrier frequency is…”
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Human Mitochondrial Topoisomerase I by Zhang, Hongliang, Barceló, Juana M., Lee, Benson, Kohlhagen, Glenda, Zimonjic, Drazen B., Popescu, Nicholas C., Pommier, Yves

“…Tension generated in the circular mitochondrial genome during replication and transcription points to the need for mtDNA topoisomerase activity. Here we report…”
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SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings by CUSCO, I, BARCELO, M. J, ROJAS-GARCIA, R, ILLA, I, GAMEZ, J, CERVERA, C, POU, A, IZQUIERDO, G, BAIGET, M, TIZZANO, E. F

“…Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons. It is caused by mutations in the survival motor neuron gene 1…”
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Scalable haloscopes for axion dark matter detection in the 30 μeV range with RADES by Melcón, A. Álvarez, Cuendis, S. Arguedas, Cogollos, C., Díaz-Morcillo, A., Döbrich, B., Gallego, J. D., Barceló, J. M. García, Gimeno, B., Golm, J., Irastorza, I. G., Lozano-Guerrero, A. J., Malbrunot, C., Millar, A., Navarro, P., Garay, C. Peña, Redondo, J., Wuensch, W.

“…A bstract RADES (Relic Axion Detector Exploratory Setup) is a project with the goal of directly searching for axion dark matter above the 30 μ eV scale…”
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Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients by GAMEZ, J, BARCELO, M. J, MUNOZ, X, CARMONA, F, CUSCO, I, BAIGET, M, CERVERA, C, TIZZANO, E. F

“…The presence of the SMN2 deletion in 124 patients with ALS was investigated. Eleven patients had the homozygous deletion of SMN2 (8.8%) in comparison with 20…”
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Prenatal diagnosis for risk of spinal muscular atrophy by Cuscó, I, Barceló, M.J, Soler, C, Parra, J, Baiget, M, Tizzano, E

“…Prenatal diagnosis of spinal muscular atrophy is usually performed in high risk couples by detection of a homozygous deletion in the survival motor neurone…”
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Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain by Baiget, M, Barceló, M J, Gimferrer, E

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Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain by Bach, V., Remacha, A., Altés, A., Barceló, M.J., Molina, M.A., Baiget, M.

“…Hereditary hemochromatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be…”
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Testing the performance of sensors for ozone pollution monitoring in a citizen science approach by Ripoll, A., Viana, M., Padrosa, M., Querol, X., Minutolo, A., Hou, K.M., Barcelo-Ordinas, J.M., Garcia-Vidal, J.

“…Tropospheric ozone (O3) is an environmental pollutant of growing concern, especially in suburban and rural areas where the density of air quality monitoring…”
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High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation by Neville, C E, Mahadevan, M S, Barceló, J M, Korneluk, R G

“…The mutation causing myotonic dystrophy (DM) has been identified as an amplification of an unstable trinucleotide (CTG)n repeat in over 99% of the global DM…”
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Genotyping the HFE gene by melting point analysis with the LightCycler system: Pros and cons by Bach, V., Barceló, M.J., Altés, A., Remacha, A., Félez, J., Baiget, M.

“…The assay that combines rapid-cycle PCR with allele-specific fluorescent probe melting profiles performed on the Roche Diagnostics LightCycler is commonly…”
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Intergenerational stability of the myotonic dystrophy protomutation by Barceló, J M, Mahadevan, M S, Tsilfidis, C, MacKenzie, A E, Korneluk, R G

“…The amplification of the CTG trinucleotide repeat in myotonic dystrophy (DM) correlates with increasingly severe phenotypes. We designate its minimal…”
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Characterisation of SMN hybrid genes in Spanish SMA patients : de novo, homozygous and compound heterozygous cases by CUSCO, Ivon, BARCELO, Maria J, DEL RIO, Elisabeth, MARTIN, Yolanda, HERNANDEZ-CHICO, Concepcion, BUSSAGLIA, Elena, BAIGET, Montserrat, TIZZANO, Eduardo F

“…Autosomal recessive spinal muscular atrophy (SMA) is classified, by age of onset and maximal motor milestones achieved, into type I (severe form), type II…”
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Planning roadside infrastructure for information dissemination in intelligent transportation systems by Trullols, O., Fiore, M., Casetti, C., Chiasserini, C.F., Barcelo Ordinas, J.M.

“…We consider an intelligent transportation system where a given number of infrastructured nodes (called Dissemination Points, DPs) have to be deployed for…”
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Association of XRCC1 and tyrosyl DNA phosphodiesterase (Tdp1) for the repair of topoisomerase I-mediated DNA lesions by Plo, Isabelle, Liao, Zhi-Yong, Barceló, Juana M., Kohlhagen, Glenda, Caldecott, Keith W., Weinfeld, Michael, Pommier, Yves

“…DNA topoisomerase I (Top1) is converted into a cellular poison by camptothecin (CPT) and various endogenous and exogenous DNA lesions. In this study, we used…”
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