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1. mGlu3 metabotropic glutamate receptors as a target for the treatment of absence epilepsy: Preclinical and human genetics data

Author

Celli, R., Striano, P., Citraro, R., Di Menna, L., Cannella, M., Imbriglio, T., Koko, M., De Sarro, G., Monn, J. A., Battaglia, G., van Luijtelaar, G., Nicoletti, F., Russo, E., Leo, A., Palotie, A., Folkhalsan, A. -E. L., Ruppert, A. -K., Lal, D., Thiele, H., Altmuller, J., Jabbari, K., Nurnberg, P., Sander, T., Siren, A., Becker, F., Lerche, H., Weber, Y., Koeleman, B., Caglayan, H., Hjalgrim, H., Moller, R., Muhle, H., Helbig, I., Everett, K., May, P., Krause, R., Balling, R., Nabbout, R., Zara, F., Scala, M., Iacomino, M., Scudieri, P., Bocciardi, R., Balagura, G., Minetti, C., Riva, A., Vari, M. S., Amadori, E., Perinelli, M., Verrotti, A., Baulac, S., and Kunz, W.

Subjects
gaba, Pharmacology, cortico-thalamo-cortical network, Action, intention, and motor control, human genetics, glutamate, General Medicine, absence epilepsy, eeg, mglu3 receptors, Psychiatry and Mental health, Neurology, Pharmacology (medical), Neurology (clinical)
Abstract

Background: Previous studies suggest that different metabotropic glutamate (mGlu) receptor subtypes are potential drug targets for the treatment of absence epilepsy. However, no information is available on mGlu3 receptors. Objective: To examine whether (i) abnormalities changes of mGlu3 receptor expression/signaling are found in the somatosensory cortex and thalamus of WAG/Rij rats developing spontaneous absence seizures; (ii) selective activation of mGlu3 receptors with LY2794193 affects the number and duration of spike-wave discharges (SWDs) in WAG/Rij rats; and (iii) a genetic variant of GRM3 (encoding the mGlu3 receptor) is associated with absence epilepsy. Methods: Animals: immunoblot analysis of mGlu3 receptors, GAT-1, GLAST, and GLT-1; real-time PCR analysis of mGlu3 mRNA levels; assessment of mGlu3 receptor signaling; EEG analysis of SWDs; assessment of depressive-like behavior. Humans: search for GRM3 and GRM5 missense variants in 196 patients with absence epilepsy or other IGE/GGE Idiopathic Generalized Epilepsy (IGE)/ Genetic Generalized Epilepsy (GGE) and 125,748 controls. Results: mGlu3 protein levels and mGlu3-mediated inhibition of cAMP formation were reduced in the thalamus and somatosensory cortex of pre-symptomatic (25-27 days old) and symptomatic (6-7 months old) WAG/Rij rats compared to age-matched controls. Treatment with LY2794193 (1 or 10 mg/kg, i.p.) reduced absence seizures and depressive-like behavior in WAG/Rij rats. LY2794193 also enhanced GAT1, GLAST, and GLT-1 protein levels in the thalamus and somatosensory cortex. GRM3 and GRM5 gene variants did not differ between epileptic patients and controls. Conclusions: We suggest that mGlu3 receptors modulate the activity of the cortico-thalamo-cortical circuit underlying SWDs and that selective mGlu3 receptor agonists are promising candidate drugs for absence epilepsy treatment.

Published
2023

2. Multi sensor photogrammetric techniques for the documentation of the ruins of Temple G in Selinunte

Author

Agnello, F, Cannella, M, Parrinello, S., Dell'Amico, A., Barba, S., Di Filippo, A, Agnello, F, and Cannella, M

Subjects
SfM Photogrammetry, Drones, Archaeology, Selinunte, Temple G, Settore ICAR/17 - Disegno
Abstract

In the past two decades UAV have been increasingly used for the survey of wide areas. The chosen case study, the huge heap of ruins of the Temple G in Selinunte, demands a higher accuracy than that usually accepted for wide areas survey; nonetheless, the morphology of the ruins makes laser scanning survey inadequate to the purpose of the analysis and interpretation. The proposed methodology integrates SfM photogrammetry from UAV and action camera’s photos. A test on a specific area has evaluated the accuracy of photogrammetric survey through the comparison with laser scanning data.

Published
2022

3. Metodi per la ricostruzione virtuale e la visualizzazione di opere d'architettura perdute

Author

Agnello, F, Cannella, M, Barrale, L, Garozzo, A, Guadagna, GAG, Vassallo, G, Agnello, F, and Cannella, M

Subjects
Augmented Reality, Digital Representation, Virtual Reality, Perspective restitution, Settore ICAR/17 - Disegno, 3D modeling
Abstract

Digital technologies for architecture representation have strongly modified uses and rules inherited from a millennial tradition. In the initial development period CAD tools worked as electronic drafting machines and digital drawings were almost similar to hand-made drawings; plans, fronts, sections and the like. In this period perspective and axonometric drawings were rarely executed because architects realized that these drawings had to be substituted by 3D digital models views, but modeling tools were not so familiar to professionals, both for software and hardware limitations. The evolution of architecture digital representation is still in progress, but it is possible to outline a precise direction that moves towards the death of drawing; the task of visualization of buildings and architecture design will be accomplished by 3D digital models. Digital representations of complex architecture scenarios have been successfully performed for entertainment purposes by the film industry; the settings of outstanding movies as Gladiator and Troy are the result of sophisticated 3D reconstructions. Virtual reconstructions have been widely used to enrich the experience of visit of archaeological sites in the past two decades.

Published
2022

4. mGlu3 metabotropic glutamate receptors as a target for the treatment of absence epilepsy: Preclinical and human genetics data

Author

Celli, R., Striano, P., Citraro, R., Di Menna, L., Cannella, M., Imbriglio, T., Koko, M., De Sarro, G., Monn, A.J., Battaglia, G., Luijtelaar, E.L.J.M. van, Nicoletti, F., Russo, E., Leo, A., Celli, R., Striano, P., Citraro, R., Di Menna, L., Cannella, M., Imbriglio, T., Koko, M., De Sarro, G., Monn, A.J., Battaglia, G., Luijtelaar, E.L.J.M. van, Nicoletti, F., Russo, E., and Leo, A.

Abstract

09 mei 2022, Item does not contain fulltext, Background: Previous studies suggest that different metabotropic glutamate (mGlu) receptor subtypes are potential drug targets for the treatment of absence epilepsy. However, no information is available on mGlu3 receptors. Objective To examine whether (i) abnormalities changes of mGlu3 receptor expression/signaling are found in the somatosensory cortex and thalamus of WAG/Rij rats developing spontaneous absence seizures; (ii) selective activation of mGlu3 receptors with LY2794193 affects the number and duration of spike-wave discharges (SWDs) in WAG/Rij rats; and (iii) a genetic variant of GRM3 (encoding the mGlu3 receptor) is associated with absence epilepsy. Methods: Animals: immunoblot analysis of mGlu3 receptors, GAT-1, GLAST, and GLT-1; real-time PCR analysis of mGlu3 mRNA levels; assessment of mGlu3 receptor signaling; EEG analysis of SWDs; assessment of depressive-like behavior. Humans: search for GRM3 and GRM5 missense variants in 196 patients with absence epilepsy or other IGE/GGE Idiopathic Generalized Epilepsy (IGE)/ Genetic Generalized Epilepsy (GGE) and 125,748 controls. Results: mGlu3 protein levels and mGlu3-mediated inhibition of cAMP formation were reduced in the thalamus and somatosensory cortex of pre-symptomatic (25-27 days old) and symptomatic (6-7 months old) WAG/Rij rats compared to age-matched controls. Treatment with LY2794193 (1 or 10 mg/kg, i.p.) reduced absence seizures and depressive-like behavior in WAG/Rij rats. LY2794193 also enhanced GAT1, GLAST, and GLT-1 protein levels in the thalamus and somatosensory cortex. GRM3 and GRM5 gene variants did not differ between epileptic patients and controls. Conclusions: We suggest that mGlu3 receptors modulate the activity of the cortico-thalamo-cortical circuit underlying SWDs and that selective mGlu3 receptor agonists are promising candidate drugs for absence epilepsy treatment.

Published
2022

5. 3D PRINTING AND AUGMENTED REALITY: THE PROJECT FOR THE SECOND COMPETITION FOR THE ITALIAN PARLIAMENT BY ERNESTO BASILE.

Author

Avella, F., Cannella, M., and Lanza, F.

Subjects
THREE-dimensional printing, LEGISLATIVE bodies, CONSTRUCTION projects, AUGMENTED reality, ENDOWMENTS
Abstract

The project for the second competition for the Parliament of the Kingdom of Italy, drawn up between 1888 and 1889 sees Ernesto Basile (Palermo 1857-1932) as winner ex aequo. Basile's project envisages the construction of a large monumental building (182.70 m by 171.40 m), in which the three halls, the Chamber, the Senate and the Royal Sessions Hall, develop around a large central courtyard; it will not be realized due to the fall of the Crispi government in 1891, but presents, in embryo, solutions adopted in the expansion of Palazzo Montecitorio (1903 - 1918), entrusted to Basile, in which the Chamber of Deputies, still existing today, is may consider "a sort of budding, from the organism of his second Parliament Building" (Mauro, Sessa 2000b).The original drawings are kept and cataloged in the Basile Endowment of the Scientific Collections of the Department of Architecture of the University of Palermo, edited by Professor Ettore Sessa (Mauro, Sessa, 2000a; Sessa, 2014, Mauro, Sessa, 2015).In a first phase, the conjectural reconstruction and digital modeling was carried out (Avella, 2020), and in a second phase, a first 3D printing model was created, limited to the main front, which involved the design of the decomposition and assembly according to criteria respectful of architectural parties (Avella, 2021).This work presents the progress of the work, extended to the bodies containing the Chamber of Deputies and that of the Senate and the integration with Augmented Reality systems, in view of the future permanent exhibition at the premises of the Basile Endowment. The integration with Augmented Reality visualization systems stems from the desire to allow the observer to visualize the external envelope of the physical model and the internal spaces of the parliamentary halls. [ABSTRACT FROM AUTHOR]

Published
2023
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6. From aerial survey to representation and visualization: the Temple G of Selinunte

Author

Agnello, F., Cannella, M., Agnello, Fabrizio, and Cannella, Mirco

Subjects
Virtual reconstruction, Settore ICAR/17 - Disegno, Temple G, Video-compositing, Motion tracking, Drone
Abstract

The paper reports the outputs of a research work focused on the segmentation of meshes generated from aerial photogrammetric survey, aiming at the implementation of a database integrated in a web-based Information System developed with 3D-Hop technology, that uses models as the access point to information data. Segmentation is a relevant topic in cultural heritage documentation, since it is the a pre-requisite for the development of systems that connect information data to 3D models. The chosen case study is the Doric Temple G of Selinunte, an archaeological site in southern Sicily. Temple G, one of the biggest Doric Temples of Magna Graecia, it is today a huge heap of ruins, probably due to one or more past earthquakes; though centuries have passed, ruined blocks often show their original shape. The proposed segmentation workflow is based on the identification of the shape and position of The NURBS models have supported the virtual reconstruction of some columns of the southern front of the Temple; the reconstruction model has finally been used for the development of a video that uses motion tracking techniques for the visualization of the columns in the real scene in a footage taken with a drone.

Published
2022

7. Il palazzo arcivescovile di Palermo, da Simone Beccadelli a Giovanni Paternò. Storia e ricostruzione della configurazione quattrocentesca

Author

Garofalo, E, Cannella. M, Garofalo, E, and Cannella. M

Subjects
Settore ICAR/17 - Disegno, Arcibishop’s Palace, 15th Century Palermo, Simone Beccadelli, Giovanni Paternò, Settore ICAR/18 - Storia Dell'Architettura
Abstract

In the fifties of the fifteenth century, the archbishop of Palermo Simone Beccadelli started the construction of a new archbishop’s palace in an area between the upper stretch of the ancient Cassaro road and the churchyard created along the southern side of the cathedral, whose arrangement had engaged his predecessors since the thirties of the same century. The architectural undertaking, driven by the primary need to create a residence suitable for the rank of the Palermo archibishop’s chair, therefore also assumes a strong urban significance, helping to define the same space of the churchyard and the monumental cathedral complex as a whole. If a first campaign of works would seem to be concluded by the sixties of the fifteenth century, further significant interventions are recorded at the end of the same century on commission of Archbishop Giovanni Paternò. Although substantial transformations and additions, carried out especially between the end of the sixteenth and eighteenth centuries, have profoundly altered the volume and the original organization of the building, several elements (portal, a mullioned window, single lancet windows) and some fragments still allow us to hypothesize about its configuration in fifteenth century, starting from concrete data and clues. This contribution proposes, through the interaction between the usual tools of historical-critical investigation and those of drawing and digital modeling, to carry out a reconstructive hypothesis of the fifteenth-century building (in particular of its eastern front) and a critical framing of the same, in relation to its historical-artistic context.

Published
2021

9. Design and Overview of the Solar Cruiser Mission

Author

Cannella, M., Enger, S., Puls, A., Rodriguez, J., Johnson, L., Dervan, J., and Turse, D.

Abstract

Solar Cruiser is a Small Satellite Technology Demonstration Mission (TDM) of Opportunity to mature solar sail propulsion technology to enable near-term, high-priority breakthrough science missions as defined in the Solar and Space Physics Decadal Survey. Solar Cruiser will demonstrate a “sailcraft” platform with pointing control and attitude stability comparable to traditional platforms, upon which a new class of Heliophysics missions may fly instruments. It will show sailcraft operation (acceleration, navigation, station keeping, inclination change) immediately applicable to near-term missions, and show scalability of sail technologies such as the boom, membrane, deployer, reflectivity control devices for roll momentum management to enable more demanding missions, such as high inclination solar imaging. A team led by the NASA Marshall Space Flight Center is developing the Solar Cruiser with partners Ball Aerospace and Roccor (a Redwire company). Ball is responsible for procuring a Venus class microsat commercial bus from Blue Canyon Technologies, defining all necessary mission-specific modifications, and performing the Integration and Test of the Bus with the Solar Sail System to form the completed sailcraft. Ball will also procure the IRIS radio from Space Dynamics Laboratories and develop the adapter and harnessing that interfaces to the Launch Vehicle. Roccor will integrate the Solar Sail System (SSS), including the sail membrane from their Subcontractor NeXolve, the Triangular, Rollable and Collapsible (TRACTM) Boom, the LISAs (Lightweight Integrated Solar Arrays) and momentum management Reflective Control Devices (RCDs), before providing it to Ball for Integration and Test. Roccor will also build the Active Mass Translator (AMT), which moves the Sail relative to the Bus to control momentum in the pitch/yaw directions, while the RCDs provide roll control. MSFC manages the overall mission and provide the specialized solar sail attitude determination and control system (SSADCS) algorithms and software necessary to fly the sailcraft. The SSADCS software created for this mission will autonomously operate the AMT and RCDs to provide complete momentum control of the sailcraft. Bus-mounted Electric Propulsion thrusters are included to provide auxiliary momentum management, if required. Solar Cruiser will launch as a secondary payload with NASA’s Interstellar Mapping and Acceleration Probe (IMAP)in early 2025. The sailcraft will separate from the launch vehicle on a near-L1 trajectory (Sun-Earth Lagrangian Point 1; sunward of L1 along the Sun-Earth Line) and complete its primary mission in 11 months or less. During this time, Solar Cruiser will complete and fully characterize a large solar sail deployment (1,653 square meters/17,793 square feet), sail operation, station keeping in a sub-L1 halo orbit, inclination changes, and a roll demonstration. This paper provides a mission and sailcraft design overview, including objectives and planned operations of the technology demonstration mission. It presents the latest findings from technology maturation efforts, major program design reviews, and initial launch integration planning.

Published
2021

10. Third Annual Huntington Disease Clinical Research Symposium: Organized by the Huntington Study Group

Author

Dubinsky, Richard, Roberson, Judy, Battaglia, G., Cannella, M., Riozzi, B., Orobello, S., Maat-Schieman, M. L., Aronica, E., Busceti, C. Letizia, Ciarmiello, A., Alberti, S., Sassone, J., Sipione, S., Bruno, V., Frati, L., Nicoletti, F., Squitieri, F., Rao, A., Gordon, A., Marder, K., Nolta, Jan, Anderson, K., Gruber-Baldini, A., Medalie, J., Reich, S., Fishman, P., Robottom, B., Weiner, W., Shulman, L., Langbehn, D., Paulsen, J., Witten, Celia, Cox, M., Feigin, A., Napolitano, B., Goh, A., Yastrubetskaya, O., Chiu, E., Cloud, L., Helmers, S., Jones, R., Factor, S., Emory, C. Testa, Kegelmeyer, D., Kostyk, S., Fritz, N., Kloos, A., Lessig, S., Goldstein, J., Corey-Bloom, J., Simonelli, M., Martino, T., Colonnese, C., Callaghan, J., Arran, N., Boisse, M. F., Coleman, A., Dar Santos, R., Dumas, E., Hart, E. ’t, Justo, D., Read, J., Say, M., Van Den Bogaard, S., Durr, A., Leavitt, B., Roos, R., Tabrizi, S., Bourdet, C., van Duijn, E., Craufurd, D., Evans, K., Vaccarino, A., Aylward, E., Nopoulos, P., Ross, C., Pierson, R., Mills, J., Magnotta, V., Johnson, H., Mitchell, A., Cortes, J. C., Dahmubed, A., Krakauer, J., Mazzoni, P., Russell, D., Jennings, D., Tamagnan, G., Seibyl, J., Koren, A., Zubal, G., Marek, K., Goodman, L., Carnes, R., Giuliano, J., Vetter, L., MacDonald, M., Lee, J. Min, Seong, I. Sik, Fossale, E., Anderson, M. A., Wheeler, V., Gusella, J., Johnson, J., Yu, T., Jones, D., Chan, A., Richardson, K., McCusker, E., Loy, C., Griffith, J., Paulsen, J. S., Waters, S., Tedroff, J., Kieburtz, K., Krogh, P. Lindskov, Buusman, A., Rembratt, Å., Dorey, J., Lamure, M., Toumi, M., von der Schulenburg, J. -M. Graf, Pettersson, F., Dyhring, T., Sonesson, C., Waters, N., Pontén, H., Erwin, C., Williams, J., Juhl, A., Adams, W., Byars, J., O’Rourke, J., Flynn, A., Fiedorowicz, J., Duff, K., Leserman, A., Beglinger, L., Smith, M., Stout, J., Queller, S., Rao, S., Zimbelman, J., Groves, M., Guttman, M., Wexler, E., Perlman, S., Burgunder, J. -M., Rosenblatt, A., van Kammen, D., PREDICT-HD Investigators of the Huntington Study Group, TRACK-FID Investigators, TRACK-HD Investigators, PREDICT-HD Investigators and Coordinators of the Huntington Study Group, PREDICT-HD Investigators of the Huntington Study Group, Investigators of the Huntington Study Group, Huntington Study Group PHAROS Investigators, and PREDICT-HD Investigators of the Huntington Study Group

Published
2010
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11. Pharmacological activation of mGlu5 receptors with the positive allosteric modulator, VU0360172 modulates thalamic GABAergic transmission

Author

Celli, R., Wall, M.J., Santolini, I., Vergassola, M., Di Menna, L., Mascio, G., Cannella, M., Luijtelaar, E.L.J.M. van, Pittaluga, A., Ciruela, F., Bruno, V., Nicoletti, F., Ngomba, R.T., Celli, R., Wall, M.J., Santolini, I., Vergassola, M., Di Menna, L., Mascio, G., Cannella, M., Luijtelaar, E.L.J.M. van, Pittaluga, A., Ciruela, F., Bruno, V., Nicoletti, F., and Ngomba, R.T.

Abstract

Contains fulltext : 221388.pdf (Publisher’s version ) (Closed access) Contains fulltext : 221388pre.pdf (Author’s version preprint ) (Open Access), Previous studies have shown that injection of the mGlu5 receptor positive allosteric modulator (PAM) VU0360172 into either the thalamus or somatosensory cortex markedly reduces the frequency of spike-and-wave discharges (SWDs) in the WAG/Rij model of absence epilepsy. Here we have investigated the effects of VU0360172 on GABA transport in the thalamus and somatosensory cortex, as possible modes of action underlying the suppression of SWDs. Systemic VU0360172 injections increase GABA uptake in thalamic synaptosomes from epileptic WAG/Rij rats. Consistent with this observation, VU0360172 could also enhance thalamic GAT-1 protein expression, depending on the dosing regimen. This increase in GAT-1 expression was also observed in the thalamus from non-epileptic rats (presymptomatic WAG/Rij and Wistar) and appeared to occur selectively in neurons. The tonic GABAA receptor current present in ventrobasal thalamocortical neurons was significantly reduced by VU0360172 consistent with changes in GAT-1 and GABA uptake. The in vivo effects of VU0360172 (reduction in tonic GABA current and increase in GAT-1 expression) could be reproduced in vitro by treating thalamic slices with VU0360172 for at least 1 h and appeared to be dependent on the activation of PLC. Thus, the effects of VU0360172 do not require an intact thalamocortical circuit. In the somatosensory cortex, VU0360172 reduced GABA uptake but did not cause significant changes in GAT-1 protein levels. These findings reveal a novel mechanism of regulation mediated by mGlu5 receptors, which could underlie the powerful anti-absence effect of mGlu5 receptor enhancers in animal models.

Published
2020

12. Water movement in tendon in response to a repeated static tensile load using one-dimensional magnetic resonance imaging

Author

Helmer, K.G., Nair, G., Cannella, M., and Grigg, P.

Subjects
Magnetic resonance imaging -- Usage, Tendons -- Mechanical properties, Biomechanics -- Research, Engineering and manufacturing industries, Science and technology
Abstract

Rabbit Achilles tendons (N=8) were subjected to tensile loading while internal water movements were followed using NMR. The distribution of the internal water in tendons was measured using a one-dimensional proton-density map that was collected along a radial line oriented transverse to the tendon's long axis. The proton density map was created from fits to [T.sub.2] relaxation data. The experimental design included two cycles of loading (7.5 N tensile load) and relaxation. The first load application was for 42.67 min: unloaded for 21.33 min, reloaded for 21.33 min, and then unloaded for 21.33 min. Water was redistributed in a time-dependent fashion upon loading: proton density decreased in the core region and increased in the rim region. In addition there was evidence that tensile loading caused water to become NMR visible. In separate, parallel experiments, we studied the mechanical behavior of tendons using identical conditions of uniaxial loading (N=7). The time constants of water movements were very different from the time constants of mechanical relaxation, indicating that water redistribution is not the sole determining factor of mechanical behavior. [DOI: 10.1115/1.2244573]

Published
2006

23. The tree of life in the southern porch of the cathedral of Palermo: survey and geometric analysis

Author

Agnello, F., Cannella, M, Bertocci, S, Bini, M, Agnello, F., and Cannella, M

Subjects
Settore ICAR/17 - Disegno, Medieval patterns, Tree of life, Geometric analysis
Abstract

This study focuses one of the most puzzling works of art made in Palermo at the end of the medieval age: the tree of life, a rich geometrical decoration with animal and human figures in the southern porch of the Cathedral of Palermo. Topographic and SfM photogrammetric methods produced a detailed orthophoto of the porch. Images collected during restoration have been rectified and superimposed to the orthophoto. The geometrical analysis of the decorative patterns reveals a complex design and meaningful links between the decoration and the general architectural layout of the porch.

Published
2016

24. Interferometric synthetic aperture radar imagery of the Gulf Stream

Author

Ainsworth, T. L, Cannella, M. E, Jansen, R. W, Chubb, S. R, Carande, R. E, Foley, E. W, Goldstein, R. M, and Valenzuela, G. R

Subjects
Oceanography
Abstract

The advent of interferometric synthetic aperture radar (INSAR) imagery brought to the ocean remote sensing field techniques used in radio astronomy. Whilst details of the interferometry differ between the two fields, the basic idea is the same: Use the phase information arising from positional differences of the radar receivers and/or transmitters to probe remote structures. The interferometric image is formed from two complex synthetic aperture radar (SAR) images. These two images are of the same area but separated in time. Typically the time between these images is very short -- approximately 50 msec for the L-band AIRSAR (Airborne SAR). During this short period the radar scatterers on the ocean surface do not have time to significantly decorrelate. Hence the two SAR images will have the same amplitude, since both obtain the radar backscatter from essentially the same object. Although the ocean surface structure does not significantly decorrelate in 50 msec, surface features do have time to move. It is precisely the translation of scattering features across the ocean surface which gives rise to phase differences between the two SAR images. This phase difference is directly proportional to the range velocity of surface scatterers. The constant of proportionality is dependent upon the interferometric mode of operation.

Published
1993

27. Alterations in the α2δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Author

Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., Moyanova, S.G., Ngomba, R.T., Luijtelaar, E.L.J.M. van, Battaglia, G., Bruno, V., Striano, P., Nicoletti, F., Santolini, I., Celli, R., Cannella, M., Imbriglio, T., Guiducci, M., Parisi, P., Schubert, J., Iacomino, M., Zara, F., Lerche, H., Moyanova, S.G., Ngomba, R.T., Luijtelaar, E.L.J.M. van, Battaglia, G., Bruno, V., Striano, P., and Nicoletti, F.

Abstract

Contains fulltext : 178418.pdf (publisher's version ) (Open Access), Objectives: Thrombospondins, which are known to interact with the α2δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether expression of the gene encoding for thrombospondin-1 was altered in the brain of WAG/Rij rats, which model absence epilepsy in humans. In addition, we examined the frequency of genetic variants of THBS1 in a large cohort of children affected by idiopathic/genetic generalized epilepsies (IGE/GGEs). Methods: We measured the transcripts of thrombospondin-1 and α2δ subunit, and protein levels of α2δ, Rab3A, and the vesicular glutamate transporter, VGLUT1, in the somatosensory cortex and ventrobasal thalamus of presymptomatic and symptomatic WAG/Rij rats and in two control strains by real-time polymerase chain reaction (PCR) and immunoblotting. We examined the genetic variants of THBS1 and CACNA2D1 in two independent cohorts of patients affected by IGE/GGE recruited through the Genetic Commission of the Italian League Against Epilepsy (LICE) and the EuroEPINOMICS-CoGIE Consortium. Results: Thrombospondin-1 messenger RNA (mRNA) levels were largely reduced in the ventrobasal thalamus of both presymptomatic and symptomatic WAG/Rij rats, whereas levels in the somatosensory cortex were unchanged. VGLUT1 protein levels were also reduced in the ventrobasal thalamus of WAG/Rij rats. Genetic variants of THBS1 were significantly more frequent in patients affected by IGE/GGE than in nonepileptic controls, whereas the frequency of CACNA2D1 was unchanged. Significance: These findings suggest that thrombospondin-1 may have a role in the pathogenesis of IGE/GGEs.

Published
2017

29. La Cappella Palatina di Palermo: Misura, Interpretazione, Rappresentazione

Author

Cannella, M., Cannella, M, and Cannella, Mirco

Subjects
3D modeling, Cultural heritage, Laser scanner, Polygonal modeling, Texture, rilievo laser scanning, modellazione 3D, Cappella Palatina, Settore ICAR/17 - Disegno, Rilievo, Laser scanner, Cappella Palatina
Abstract

Lo studio che segue è incentrato sull'analisi delle vicende costruttive della Cappella Palatina nel Palazzo Reale di Palermo, costruita per volontà di Ruggero II nella prima metà del XII secolo. La peculiarità della Cappella è quella di aver mantenuto pressoché inalterato i caratteri spaziali dell’interno attraverso i secoli; tale peculiarità ha fatto si che la Cappella sia stata oggetto di studi molto approfonditi condotti da storici dell’arte a partire dalla del XIX secolo fino ai nostri giorni. Lo studio intende porsi come contributo alla conoscenza della Cappella, alla interpretazione di alcune questioni rimaste irrisolte, come stimolo ausiliare per successivi studi, attraverso gli strumenti disciplinari del Rilievo e della Rappresentazione. The study analyses the construction of the Palatine Chapel in the Royal Palace in Palermo commissioned by Roger II in the first half of the twelfth century. The chapel is unique insofar as the spatial characteristics of the interior have remained the same over the centuries, a characteristic that has led to many in- depth studies by historians from the late nineteenth century to the present day. Using the disciplinary tools of survey and representation, the aim of the study was to provide additional information about the chapel, contribute to interpreting some still unsolved issues, and stimulate further study.

Published
2012

30. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Author

Orth, M, Handley, Oj, Schwenke, C, Dunnett, S, Wild, Ej, Tabrizi, Sj, Landwehrmeyer, Gb, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Šenkárová, Z, Hasholt, L, Hjermind, Le, Jakobsen, O, Nørremølle, A, Sørensen, Sa, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Kärppä, M, Åman, J, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucrière, D, De Bruycker, C, Carette, As, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, Jp, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, Ma, Calvas, F, Cheriet, S, Démonet, Jf, Galitzky, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Russo, Cv, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, de Weert AM, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Frich, J, Wehus, R, Aaserud, O, Borgerød, N, Bjørgo, K, Fannemel, M, Gørvell, P, Pro Koivisto, S, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Blinkenberg, Eø, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Júlio, F, Januário, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Vale, J, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Bascuñana, M, Ventura, Mf, Ribas, Gg, de Yébenes JG, Moreno, Jl, Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Perea, Mf, Lorenza, F, Torres, Mm, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Muñoz, E, Elorza, Md, López, Cd, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Villa Riballo, A, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, Gorospe, A, Legarda, I, Arques, Pn, Rodríguez, Mj, Vives, B, Gaston, I, Ramos Arroyo MA, Moreno, Jm, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Martínez, Lm, del Val JL, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Höglund, A, Pålhagen, Se, Paucar, M, Sandström, B, Soltani, R, Svenningsson, P, Reza Soltani TW, Constantinescu, R, Fredlund, G, Høsterey Ugander, U, Neleborn Lingefjärd, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Björn, Y, Ekwall, C, Gøller, Ml, Johansson, A, Wiklund, L, Petersen, Å, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza Keylock, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Orth, M, European Huntington's Disease, Network, Handley, Oj, Schwenke, C, Dunnett, S, Wild, Ej, Tabrizi, Sj, Bachoud Lévi AC, Landwehrmeyer G. B., Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem, Mr, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Šenkárová, Z, Hasholt, L, Hjermind, Le, Jakobsen, O, Nørremølle, A, Sørensen, Sa, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Kärppä, M, Åman, J, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucrière, D, De Bruycker, C, Carette, A, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, Jp, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, Ma, Calvas, F, Cheriet, S, Démonet, Jf, Galitzky, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Rinaldi, Carlo, Russo, Cv, Salvatore, Elena, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Dumas, Em, Jurgens, Ck, van den Bogaard, Sj, 't Hart, Ep, Kremer, B, Verstappen, Cc, Frich, J, Wehus, R, Aaserud, O, Borgerød, N, Bjørgo, K, Fannemel, M, Gørvell, P, Pro Koivisto, S, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Blinkenberg, Eø, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Júlio, F, Januário, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Vale, J, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Bascuñana, M, Ventura, Mf, Ribas, Gg, de Yébenes, Jg, Moreno, Jl, Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Perea, Mf, Lorenza, F, Torres, Mm, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Muñoz, E, Elorza, Md, López, Cd, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Pons i., Càrdenas R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Villa Riballo, A, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, Gorospe, A, Legarda, I, Arques, Pn, Rodríguez, Mj, Vives, B, Gaston, I, Ramos Arroyo, Ma, Moreno, Jm, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Martínez, Lm, del Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Höglund, A, Pålhagen, Se, Paucar, M, Sandström, B, Soltani, R, Svenningsson, P, Reza Soltani, Tw, Constantinescu, R, Fredlund, G, Høsterey Ugander, U, Neleborn Lingefjärd, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Björn, Y, Ekwall, C, Gøller, Ml, Johansson, A, Wiklund, L, Petersen, Å, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza Keylock, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Faculty of Economic and Social Sciences and Solvay Business School, Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Orth M., European Huntington's Disease Network, Handley O.J., Schwenke C., Dunnet S., Wild E.J., Tabrizi S.J., Landwehrmeyer G.B., Capellari S., Cortelli P., Gallassi R., Poda R., Rizzo G., and Scaglione C.

Subjects
Gerontology, medicine.medical_specialty, Neurology, International Cooperation, Disease, Irritability, Data Collection/methods, Huntington's disease, medicine, Humans, Registries, Psychiatry, Suicidal ideation, Disease burden, business.industry, Data Collection, medicine.disease, Europe, Huntington Disease, Psychiatry and Mental health, European Huntington's Disease Network, Surgery, Observational study, Neurology (clinical), medicine.symptom, business
Abstract

BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS: We report on cross-sectional data of the first 1766 participants in REGISTRY, the European Huntington's Disease Network's (EHDN), multi-lingual, multi-national prospective observational study of HD in Europe. Data collection (demographics, phenotype, genotype, medication, co-morbidities, biosamples) followed a standard protocol. RESULTS: Phenotype, and the HD genotype, of manifest HD participants across different European regions was similar. Motor onset was most common (48%) with a non-motor onset in more than a third of participants. Motor signs increased, and cognitive abilities and functional capacity declined as the disease burden (CAGn-35.5) X age) increased. A life-time history of behavioural symptoms was common, but the behavioural score was not related to disease burden. One fifth of participants had severe psychiatric problems, e.g. suicidal ideation and attempts, and/or irritability/aggression, with psychosis being less common. Participants on anti-dyskinetic medication had a higher motor and lower cognitive score, were older, and more prone to physical trauma. A higher motor and a lower cognitive score predicted more advanced disease. CONCLUSIONS: The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of novel treatments.

Published
2011

31. Early defect of transforming growth factor β1 formation in Huntington's disease

Author

Battaglia G, Cannella M, Riozzi B, Orobello S, Maat Schieman ML, Aronica E, Busceti CL, Ciarmiello A, Alberti S, Amico E, Sipione S, Bruno V, Frati L, Nicoletti F, Squitieri F., SASSONE PAGANO, JENNY, Battaglia, G, Cannella, M, Riozzi, B, Orobello, S, Maat Schieman, Ml, Aronica, E, Busceti, Cl, Ciarmiello, A, Alberti, S, Amico, E, SASSONE PAGANO, Jenny, Sipione, S, Bruno, V, Frati, L, Nicoletti, F, and Squitieri, F.

Published
2011

32. Impaired PGC-1alpha function in muscle in Huntington's disease

Author

Chaturvedi RK, Adhihetty P, Shukla S, Hennessy T, Calingasan N, Yang L, Starkov A, Kiaei M, Cannella M, Ciammola A, Squitieri F, Beal M.F., SASSONE PAGANO, JENNY, Chaturvedi, Rk, Adhihetty, P, Shukla, S, Hennessy, T, Calingasan, N, Yang, L, Starkov, A, Kiaei, M, Cannella, M, SASSONE PAGANO, Jenny, Ciammola, A, Squitieri, F, and Beal, M. F.

Published
2009

33. Elementi teorici per il disegno informatico

Author

Avella, F, Cannella, M, Dalli Cardillo, G, Caraccia, F, Avella, F, Cannella, M, Dalli Cardillo, G, and Caraccia, F

Subjects
Settore ICAR/17 - Disegno, Disegno informatico, CAD, modellazione digitale, rendering
Abstract

IL testo affronta i temi di base del disegno informatico: i sistemi di proiezione parallela e prospettica, le diverse metodologie di modellazione (solida, di superfici e poligonale) e le tecniche di rendering.

Published
2009

37. Optimisation of a sensor cluster for supersonic object trajectory and velocity determination

Author

CANNELLA M., SCIUTO, SALVATORE ANDREA, Cannella, M., and Sciuto, SALVATORE ANDREA

Abstract

An evaluation of errors for a method for determination of trajectories and velocities of supersonic objects is conducted. The analytical study of a cluster, composed of three pressure transducers and generally used as an apparatus for cinematic determination of parameters of supersonic objects, is developed. Furthermore, detailed investigation into the accuracy of this cluster on determination of the slope of an incoming shock wave is carried out for optimization of the device. In particular, a specific non-dimensional parameter is proposed in order to evaluate accuracies for various values of parameters and reference graphs are provided in order to properly design the sensor cluster. Finally, on the basis of the error analysis conducted, a discussion on the best estimation of the relative distance for the sensor as a function of temporal resolution of the measuring system is presented.

Published
2001

39. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

Author

Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, Barth, K, Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi AC, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Hjermind, Le, Jakobsen, O, Stokholm, J, Hasholt, L, Nørremølle, A, Sørensen, Sa, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Uni, M, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Valeria Russo, C, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Piccininni, C, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudziñska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempoowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Suek, A, Krysa, W, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Rabasa Perez, M, Fenollar, M, García, R, Quiroga, Pp, Vázquez Rivera, S, Villanueva, C, Bascuñana, M, Fatás Ventura, M, García Ribas, G, García de Yébenes, J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga, M, Sánchez, V, Noguera Perea, F, Lorenza, F, Torres, Mm, Reinante, G, Vivancos Moreau, L, Barbera, Ma, Badenes Guia, D, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Tome Carruesco, G, Bas, J, Busquets, N, Calopa, M, Dalmau Elorza, M, Díez, C, López, A, Durán, S, Terol, S, Floriach Robert, M, Garzón Ruíz, B, González Casado, A, Haro Martínez, I, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Ruiz Idiago JM, Ruíz Vergara, M, Soriano García, S, Villa Riballo, A, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Bosca, M, Burguera, Ja, Garcia, Ac, Pålhagen, Se, Paucar, M, Svenningsson, P, Walldén Reza Soltani, T, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedroff, J, Esmaeilzadeh, M, Winnberg, E, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Barnes, K, Chu, C, Hobson, E, Jamieson, S, Markova, I, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Suida, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Tidswell, K., Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, and DE MICHELE, Giuseppe

Subjects
medicine.medical_specialty, Concordance, International Cooperation, Diagnostic Errors/statistics & numerical data, Nerve Tissue Proteins, Guidelines as Topic, Bioinformatics, Sensitivity and Specificity, Article, Huntingtin Gene, Huntington's disease, Trinucleotide Repeats, Internal medicine, External quality assessment, Genetics, medicine, Humans, Nerve Tissue Proteins/genetics, Diagnostic laboratory, Genetic Testing, Genetic Testing/methods/standards, Allele, Diagnostic Errors, standard reference material, Genetics (clinical), Alleles, Huntingtin Protein, ddc:618, business.industry, international cooperation, Nuclear Proteins, Reproducibility of Results, Reference Standards, medicine.disease, CAG repeat length, Nuclear Proteins/genetics, Huntington Disease, Huntington Disease/diagnosis, Mutation, Medical genetics, reproducibility of results, mutation, business, Trinucleotide repeat expansion, Huntington Disease/diagnosis/genetics, Genetic Testing/methods
Abstract

Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.

Published
2012

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