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202. Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients

Author

Lattante, Serena, Le Ber, I, Camuzat, A, Pariente, J, Brice, A, Kabashi, E., Lattante, Serena (ORCID:0000-0003-2891-0340), Lattante, Serena, Le Ber, I, Camuzat, A, Pariente, J, Brice, A, Kabashi, E., and Lattante, Serena (ORCID:0000-0003-2891-0340)

Abstract

The ubiquilin-2 gene (UBQLN-2) is the only amyotrophic lateral sclerosis (ALS)-related gene mapping on the X chromosome. Mutations in the PXX domain of UBQLN-2 have been first described in ALS patients with a mutational frequency of 2.6% in familial ALS cases with no evidence of male-to-male transmission. Different populations have been further tested with mutations largely distributed in the gene and lower frequency of positive cases. To determine the genetic contribution of UBQLN-2 in frontotemporal lobar degeneration (FTLD) and FTLD-ALS, we screened a cohort of 136 French patients, identifying a missense variant (c.1006A>G; p.T336A) in 1 FTLD patient whose biological relevance to disease is questionable. We conclude that UBQLN-2 mutations related to ALS/FTLD are extremely rare in French FTLD and FTLD-ALS patients and should not be analyzed systematically.

Published
2013

206. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Author

Nicolas, G., primary, Pottier, C., additional, Maltete, D., additional, Coutant, S., additional, Rovelet-Lecrux, A., additional, Legallic, S., additional, Rousseau, S., additional, Vaschalde, Y., additional, Guyant-Marechal, L., additional, Augustin, J., additional, Martinaud, O., additional, Defebvre, L., additional, Krystkowiak, P., additional, Pariente, J., additional, Clanet, M., additional, Labauge, P., additional, Ayrignac, X., additional, Lefaucheur, R., additional, Le Ber, I., additional, Frebourg, T., additional, Hannequin, D., additional, and Campion, D., additional

Published
2012
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212. Fréquence et phénotypes associés aux mutations du gène c9orf72 dans une cohorte française de patients atteints de DLFT

Author

Le Ber, I., primary, Camuzat, A., additional, Hannequin, D., additional, Lacomblez, L., additional, Couratier, P., additional, Guillot-Noel, L., additional, Habert, M.O., additional, Seilhean, D., additional, Golfier, V., additional, Puel, M., additional, Martinaud, O., additional, Deramecourt, V., additional, Vercelletto, M., additional, Sellal, F., additional, Pasquier, F., additional, Salachas, F., additional, Thomas-Anterion, C., additional, Didic, M., additional, Pariente, J., additional, Wargon, I., additional, Blanc, F., additional, Michel, B.F., additional, Berger, E., additional, Sauvee, M., additional, Mondon, K., additional, Fleury, M., additional, Meininger, V., additional, Duyckaerts, C., additional, Dubois, B., additional, Guedj, E., additional, and Brice, A., additional

Published
2012
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215. Animal breeding scheme applied to the quality of pure Iberian montanera pigs.

Author

Muñoz, M., Sánchez-Esquiliche, F., Caraballo, C., Gómez, F., Pariente, J. M., Silió, L., Rodríguez, C., and García-Casco, J. M.

Subjects
MEAT quality, ANIMAL breeding, SWINE carcasses
Abstract

Copyright of Archivos de Zootecnia is the property of Archivos de Zootecnia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

228. P261 - Risk, predictors, results and rate of colectomy in a historical ulcerative colitis cohort

Author

Saro Gismera IV, C., primary, López Sanromán IV, A., additional, de la Coba Ortiz IV, C., additional, García López IV, R., additional, Tojo IV, R., additional, Alvarez Posadilla IV, M., additional, Palacio Galán, A., additional, Álvarez Álvarez IV, A., additional, Román Llorente IV, F., additional, Pérez-Pariente, J., additional, Navascues IV, C.A., additional, and González Bernal IV, A., additional

Published
2009
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232. Carotidynia: a new case for an old controversy

Author

Tardy, J., primary, Pariente, J., additional, Nasr, N., additional, Peiffer, S., additional, Dumas, H., additional, Cognard, C., additional, Larrue, V., additional, Chollet, F., additional, and Albucher, J.‐F., additional

Published
2007
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235. Identification and characterization of near-fatal asthma phenotypes by cluster analysis.

Author

Serrano‐Pariente, J., Rodrigo, G., Fiz, J. A., Crespo, A., and Plaza, V.

Subjects
*ASTHMA treatment, *PHENOTYPES, *CLUSTER analysis (Statistics), *ALTERNARIA alternata, *SOYBEAN, *DISEASE exacerbation, *ARTIFICIAL respiration
Abstract

Background Near-fatal asthma ( NFA) is a heterogeneous clinical entity and several profiles of patients have been described according to different clinical, pathophysiological and histological features. However, there are no previous studies that identify in a unbiased way - using statistical methods such as clusters analysis - different phenotypes of NFA. Therefore, the aim of the present study was to identify and to characterize phenotypes of near fatal asthma using a cluster analysis. Methods Over a period of 2 years, 33 Spanish hospitals enrolled 179 asthmatics admitted for an episode of NFA. A cluster analysis using two-steps algorithm was performed from data of 84 of these cases. Results The analysis defined three clusters of patients with NFA: cluster 1, the largest, including older patients with clinical and therapeutic criteria of severe asthma; cluster 2, with an high proportion of respiratory arrest (68%), impaired conciousness level (82%) and mechanical ventilation (93%); and cluster 3, which included younger patients, characterized by an insufficient anti-inflammatory treatment and frequent sensitization to Alternaria alternata and soybean. Conclusions These results identify specific asthma phenotypes involved in NFA, confirming in part previous findings observed in studies with a clinical approach. The identification of patients with a specific NFA phenotype could suggest interventions to prevent future severe asthma exacerbations. [ABSTRACT FROM AUTHOR]

Published
2015
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236. Mesoporous materials with enhanced porosity and acidity to obtain clean fuels from low-density polyethylene (LDPE) cracking.

Author

Juárez-Hernández, L., Pérez-Pariente, J., Aguilar-Pliego, J., Múgica-Álvarez, V., Gutiérrez-Arzaluz, M., Grande, M., Márquez-Álvarez, C., and Sastre, E.

Abstract

Mesoporous materials with Si/Al ratio 7, 19 and 23 have been synthesized from ZSM-5 zeolite precursors prepared from tetrapropylammonium cations-containing clear aluminosilicate solutions, in the presence of the surfactant cetyltrimethylammonium bromide, and by employing different precursors of secondary mesoporosity or mesoporogen agents, such as nanometric carbon particles (BP700 and BP2000) and the biopolymer chitosan. The synthesized materials were characterized by X-ray diffraction, FT infrared spectroscopy, thermogravimetric analysis, electron microscopy, chemical analysis and nitrogen adsorption. It has been found that the effect of the pore-forming agents depends on the Si/Al ratio of the material, it is very small for Si/Al = 7, while for Si/Al above 19, there is a substantial increase of the secondary mesoporosity due to the mesoporogen agent, being this effect more evident for the sample with Si/Al = 23. For this material, in addition to the porosity associated to pores with a narrow size distribution centered at 3.7 nm due to the surfactant, secondary mesopores with a size distribution centered at 20-30 nm for carbon nanoparticles and in the range 4-10 nm for chitosan, are also detected. The acidity of the samples increases with their Si/Al ratio, and no significant effect of the porogen agent on the acidity has been found. The catalytic properties of these materials were tested in the conversion of m-xylene and in the cracking of low-density polyethylene (LDPE). Noticeable differences in the activity and selectivity of the gas/liquid products obtained in the catalytic cracking of LDPE were observed. [ABSTRACT FROM AUTHOR]

Published
2015
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248. Consensus sur la démence de type Alzheimer au stade sévère

Author

Vellas, B., primary, Gauthier, S., additional, Allain, H., additional, Andrieu, S., additional, Aquino, J.-P., additional, Berrut, G., additional, Berthel, M., additional, Blanchard, F., additional, Camus, V., additional, Dartigues, J.-F., additional, Dubois, B., additional, Forette, F., additional, Franco, A., additional, Gonthier, R., additional, Grand, A., additional, Hervy, M.-P., additional, Jeandel, C., additional, Joel, M.-E., additional, Jouanny, P., additional, Lebert, F., additional, Michot, P., additional, Montastruc, J.-L., additional, Nourhashemi, F., additional, Ousset, P.-J., additional, Pariente, J., additional, Rigaud, A.-S., additional, Robert, P., additional, Ruault, G., additional, Strubel, D., additional, Touchon, J., additional, Verny, M., additional, and Vetel, J.-M., additional

Published
2005
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