@article{AdrianMartinezAgeronAharonianetal.2016, author = {Adri{\´a}n-Mart{\´i}nez, S. and Ageron, M. and Aharonian, F. and Aiello, S. and Albert, A. and Ameli, F. and Annasontzis, E. and Andre, M. and Androulakis, G. and Anghinolfi, M. and Anton, G. and Ardid, M. and Avgitas, T. and Barbarino, G. and Baret, B. and Barrios-Mart{\´i}, J. and Belhorma, B. and Belias, A. and Berbee, A. and van den Berg, A. and Bertin, V. and Beurthey, S. and van Beeveren, V. and Beverini, N. and Biagi, S. and Biagioni, A. and Billault, M. and Bond{\`i}, M. and Bormuth, R. and Bouhadef, B. and Bourlis, G. and Bourret, S. and Boutonnet, C. and Bouwhuis, M. and Bozza, C. and Bruijn, R. and Brunner, J. and Buis, E. and Busto, J. and Cacopardo, G. and Caillat, L. and Calmai, M. and Calvo, D. and Capone, A. and Caramete, L. and Cecchini, S. and Celli, S. and Champion, C. and Cherkaoui El Moursli, R. and Cherubini, S. and Chiarusi, T. and Circella, M. and Classen, L. and Cocimano, R. and Coelho, J. A. B. and Coleiro, A. and Colonges, S. and Coniglione, R. and Cordelli, M. and Cosquer, A. and Coyle, P. and Creusot, A. and Cuttone, G. and D'Amico, A. and De Bonis, G. and De Rosa, G. and De Sio, C. and Di Capua, F. and Di Palma, I. and D{\´i}az Garc{\´i}a, A. F. and Distefano, C. and Donzaud, C. and Dornic, D. and Dorosti-Hasankiadeh, Q. and Drakopoulou, E. and Drouhin, D. and Drury, L. and Durocher, M. and Eberl, T. and Eichie, S. and van Eijk, D. and El Bojaddaini, I. and El Khayati, N. and Elsaesser, D. and Enzenh{\"o}fer, A. and Fassi, F. and Favali, P. and Fermani, P. and Ferrara, G. and Filippidis, C. and Frascadore, G. and Fusco, L. A. and Gal, T. and Galat{\`a}, S. and Garufi, F. and Gay, P. and Gebyehu, M. and Giordano, V. and Gizani, N. and Gracia, R. and Graf, K. and Gr{\´e}goire, T. and Grella, G. and Habel, R. and Hallmann, S. and van Haren, H. and Harissopulos, S. and Heid, T. and Heijboer, A. and Heine, E. and Henry, S. and Hern{\´a}ndez-Rey, J. J. and Hevinga, M. and Hofest{\"a}dt, J. and Hugon, C. M. F. and Illuminati, G. and James, C. W. and Jansweijer, P. and Jongen, M. and de Jong, M. and Kadler, M. and Kalekin, O. and Kappes, A. and Katz, U. F. and Keller, P. and Kieft, G. and Kießling, D. and Koffeman, E. N. and Kooijman, P. and Kouchner, A. and Kulikovskiy, V. and Lahmann, R. and Lamare, P. and Leisos, A. and Leonora, E. and Lindsey Clark, M. and Liolios, A. and Llorenz Alvarez, C. D. and Lo Presti, D. and L{\"o}hner, H. and Lonardo, A. and Lotze, M. and Loucatos, S. and Maccioni, E. and Mannheim, K. and Margiotta, A. and Marinelli, A. and Mari{\c{s}}, O. and Markou, C. and Mart{\´i}nez-Mora, J. A. and Martini, A. and Mele, R. and Melis, K. W. and Michael, T. and Migliozzi, P. and Migneco, E. and Mijakowski, P. and Miraglia, A. and Mollo, C. M. and Mongelli, M. and Morganti, M. and Moussa, A. and Musico, P. and Musumeci, M. and Navas, S. and Nicoleau, C. A. and Olcina, I. and Olivetto, C. and Orlando, A. and Papaikonomou, A. and Papaleo, R. and Păvăla{\c{s}}, G. E. and Peek, H. and Pellegrino, C. and Perrina, C. and Pfutzner, M. and Piattelli, P. and Pikounis, K. and Poma, G. E. and Popa, V. and Pradier, T. and Pratolongo, F. and P{\"u}hlhofer, G. and Pulvirenti, S. and Quinn, L. and Racca, C. and Raffaelli, F. and Randazzo, N. and Rapidis, P. and Razis, P. and Real, D. and Resvanis, L. and Reubelt, J. and Riccobene, G. and Rossi, C. and Rovelli, A. and Salda{\~n}a, M. and Salvadori, I. and Samtleben, D. F. E. and S{\´a}nchez Garc{\´i}a, A. and S{\´a}nchez Losa, A. and Sanguineti, M. and Santangelo, A. and Santonocito, D. and Sapienza, P. and Schimmel, F. and Schmelling, J. and Sciacca, V. and Sedita, M. and Seitz, T. and Sgura, I. and Simeone, F. and Siotis, I. and Sipala, V. and Spisso, B. and Spurio, M. and Stavropoulos, G. and Steijger, J. and Stellacci, S. M. and Stransky, D. and Taiuti, M. and Tayalati, Y. and T{\´e}zier, D. and Theraube, S. and Thompson, L. and Timmer, P. and T{\"o}nnis, C. and Trasatti, L. and Trovato, A. and Tsirigotis, A. and Tzamarias, S. and Tzamariudaki, E. and Vallage, B. and Van Elewyk, V. and Vermeulen, J. and Vicini, P. and Viola, S. and Vivolo, D. and Volkert, M. and Voulgaris, G. and Wiggers, L. and Wilms, J. and de Wolf, E. and Zachariadou, K. and Zornoza, J. D. and Z{\´u}{\~n}iga, J.}, title = {Letter of intent for KM3NeT 2.0}, series = {Journal of Physics G-Nuclear and Particle Physics}, volume = {43}, journal = {Journal of Physics G-Nuclear and Particle Physics}, number = {8}, doi = {10.1088/0954-3899/43/8/084001}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-188050}, pages = {84001}, year = {2016}, abstract = {The main objectives of the KM3NeT Collaboration are (i) the discovery and subsequent observation of high-energy neutrino sources in the Universe and (ii) the determination of the mass hierarchy of neutrinos. These objectives are strongly motivated by two recent important discoveries, namely: (1) the high-energy astrophysical neutrino signal reported by IceCube and (2) the sizable contribution of electron neutrinos to the third neutrino mass eigenstate as reported by Daya Bay, Reno and others. To meet these objectives, the KM3NeT Collaboration plans to build a new Research Infrastructure consisting of a network of deep-sea neutrino telescopes in the Mediterranean Sea. A phased and distributed implementation is pursued which maximises the access to regional funds, the availability of human resources and the synergistic opportunities for the Earth and sea sciences community. Three suitable deep-sea sites are selected, namely off-shore Toulon (France), Capo Passero (Sicily, Italy) and Pylos (Peloponnese, Greece). The infrastructure will consist of three so-called building blocks. A building block comprises 115 strings, each string comprises 18 optical modules and each optical module comprises 31 photo-multiplier tubes. Each building block thus constitutes a three-dimensional array of photo sensors that can be used to detect the Cherenkov light produced by relativistic particles emerging from neutrino interactions. Two building blocks will be sparsely configured to fully explore the IceCube signal with similar instrumented volume, different methodology, improved resolution and}, language = {en} } @article{MajounieRentonMoketal.2012, author = {Majounie, Elisa and Renton, Alan E. and Mok, Kin and Dopper, Elise G. P. and Waite, Adrian and Rollinson, Sara and Chi{\`o}, Adriano and Restagno, Gabriella and Nicolaou, Nayia and Simon-Sanchez, Javier and van Swieten, John C. and Abramzon, Yevgeniya and Johnson, Janel O. and Sendtner, Michael and Pamphlett, Roger and Orrell, Richard W. and Mead, Simon and Sidle, Katie C. and Houlden, Henry and Rohrer, Jonathan D. and Morrison, Karen E. and Pall, Hardev and Talbot, Kevin and Ansorge, Olaf and Hernandez, Dena G. and Arepalli, Sampath and Sabatelli, Mario and Mora, Gabriele and Corbo, Massimo and Giannini, Fabio and Calvo, Andrea and Englund, Elisabet and Borghero, Giuseppe and Floris, Gian Luca and Remes, Anne M. and Laaksovirta, Hannu and McCluskey, Leo and Trojanowski, John Q. and Van Deerlin, Vivianna M. and Schellenberg, Gerard D. and Nalls, Michael A. and Drory, Vivian E. and Lu, Chin-Song and Yeh, Tu-Hsueh and Ishiura, Hiroyuki and Takahashi, Yuji and Tsuji, Shoji and Le Ber, Isabelle and Brice, Alexis and Drepper, Carsten and Williams, Nigel and Kirby, Janine and Shaw, Pamela and Hardy, John and Tienari, Pentti J. and Heutink, Peter and Morris, Huw R. and Pickering-Brown, Stuart and Traynor, Bryan J.}, title = {Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study}, series = {The Lancet Neurology}, volume = {11}, journal = {The Lancet Neurology}, doi = {10.1016/S1474-4422(12)70043-1}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-154644}, pages = {323 -- 330}, year = {2012}, abstract = {Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings In patients with sporadic ALS, we identified the repeat expansion in 236 (7·0\%) of 3377 white individuals from the USA, Europe, and Australia, two (4·1\%) of 49 black individuals from the USA, and six (8·3\%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39·3\%) of 552 white individuals with familial ALS from Europe and the USA. 59 (6·0\%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24·8\%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic ALS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50\% penetrant by 58 years, and almost fully penetrant by 80 years. Interpretation A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases.}, language = {en} } @article{FruchartDavignonHermansetal.2014, author = {Fruchart, Jean-Charles and Davignon, Jean and Hermans, Michael P. and Al-Rubeaan, Khalid and Amarenco, Pierre and Assmann, Gerd and Barter, Philip and Betteridge, John and Bruckert, Eric and Cuevas, Ada and Farnier, Michel and Ferrannini, Ele and Fioretto, Paola and Genest, Jacques and Ginsberg, Henry N. and Gotto Jr., Antonio M. and Hu, Dayi and Kadowaki, Takashi and Kodama, Tatsuhiko and Krempf, Michel and Matsuzawa, Yuji and N{\´u}{\~n}ez-Cort{\´e}s, Jes{\´u}s Mill{\´a}n and Monfil, Calos Calvo and Ogawa, Hisao and Plutzky, Jorge and Rader, Daniel J. and Sadikot, Shaukat and Santos, Raul D. and Shlyakhto, Evgeny and Sritara, Piyamitr and Sy, Rody and Tall, Alan and Tan, Chee Eng and Tokg{\"o}zoğlu, Lale and Toth, Peter P. and Valensi, Paul and Wanner, Christoph and Zambon, Albertro and Zhu, Junren and Zimmet, Paul}, title = {Residual macrovascular risk in 2013: what have we learned?}, series = {Cardiovascual Diabetology}, volume = {13}, journal = {Cardiovascual Diabetology}, number = {26}, issn = {1475-2840}, doi = {10.1186/1475-2840-13-26}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-117546}, year = {2014}, abstract = {Cardiovascular disease poses a major challenge for the 21st century, exacerbated by the pandemics of obesity, metabolic syndrome and type 2 diabetes. While best standards of care, including high-dose statins, can ameliorate the risk of vascular complications, patients remain at high risk of cardiovascular events. The Residual Risk Reduction Initiative (R(3)i) has previously highlighted atherogenic dyslipidaemia, defined as the imbalance between proatherogenic triglyceride-rich apolipoprotein B-containing-lipoproteins and antiatherogenic apolipoprotein A-I-lipoproteins (as in high-density lipoprotein, HDL), as an important modifiable contributor to lipid-related residual cardiovascular risk, especially in insulin-resistant conditions. As part of its mission to improve awareness and clinical management of atherogenic dyslipidaemia, the R(3)i has identified three key priorities for action: i) to improve recognition of atherogenic dyslipidaemia in patients at high cardiometabolic risk with or without diabetes; ii) to improve implementation and adherence to guideline-based therapies; and iii) to improve therapeutic strategies for managing atherogenic dyslipidaemia. The R(3)i believes that monitoring of non-HDL cholesterol provides a simple, practical tool for treatment decisions regarding the management of lipid-related residual cardiovascular risk. Addition of a fibrate, niacin (North and South America), omega-3 fatty acids or ezetimibe are all options for combination with a statin to further reduce non-HDL cholesterol, although lacking in hard evidence for cardiovascular outcome benefits. Several emerging treatments may offer promise. These include the next generation peroxisome proliferator-activated receptor alpha agonists, cholesteryl ester transfer protein inhibitors and monoclonal antibody therapy targeting proprotein convertase subtilisin/kexin type 9. However, long-term outcomes and safety data are clearly needed. In conclusion, the R(3)i believes that ongoing trials with these novel treatments may help to define the optimal management of atherogenic dyslipidaemia to reduce the clinical and socioeconomic burden of residual cardiovascular risk.}, language = {en} }