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414 results on '"Nicolau S."'

2. A Corrected Proof of the Graphical Representation of a Class of Curvature Varifolds by $C^{1,\alpha}$ Multiple Valued Functions

Author

Aiex, Nicolau S.

Subjects
Mathematics - Differential Geometry, 28A75, 49Q20
Abstract

We provide a counter-example to Hutchinson's original proof of $C^{1,\alpha}$ representation of curvature $m$-varifolds with $L^q$-integrable second fundamental form and $q>m$ in [6]. We also provide an alternative proof of the same result and introduce a method of decomposing varifolds into nested components preserving weakly differentiability of a given function. Furthermore, we prove the structure theorem for curvature varifolds with null second fundamental form which is widely used in the literature., Comment: 16 pages, 2 figures

Published
2024

4. Quantitative Estimates on the Singular Set of Minimal Hypersurfaces with Bounded Index

Author

Aiex, Nicolau S., McCurdy, Sean, and Minter, Paul

Subjects
Mathematics - Differential Geometry, 53A10, 49Q20
Abstract

We prove local measure bounds on the tubular neighbourhood of the singular set of codimension one stationary integral $n$-varifolds $V$ in Riemannian manifolds which have both: (i) finite index on their smoothly embedded part; and (ii) $\mathcal{H}^{n-1}$-null singular set. A direct consequence of such a bound is a bound on the upper Minkowski content of the singular set of such a varifold in terms of its total mass and its index. Such a result improves on known bounds, namely the corresponding bound on the $\mathcal{H}^{n-7}$-measure of the singular set established by A. Song ([10]), as well as the same bounds established by A. Naber and D. Valtorta ([6]) for codimension one area minimising currents. Our results also provide more structural information on the singular set for codimension one integral varifolds with finite index (on the regular part) and no classical singularities established by N. Wickramasekera ([11])., Comment: 22 pages

Published
2022

6. Compactness of the Space of Free Boundary CMC Surfaces with Bounded Topology

Author

Aiex, Nicolau S. and Hong, Han

Subjects
Mathematics - Differential Geometry
Abstract

We prove that the space of free boundary CMC surfaces of bounded topology, bounded area and bounded boundary length is compact in the $C^k$ graphical sense away from a finite set of points. This is a CMC version of a result for minimal surfaces by Fraser-Li \cite{fraser.a-li.m2014}., Comment: 15 pages, 1 figure

Published
2020

7. Index Estimates for Surfaces with Constant Mean Curvature in $3$-dimensional Manifolds

Author

Aiex, Nicolau S. and Hong, Han

Subjects
Mathematics - Differential Geometry
Abstract

We prove index estimates for closed and free boundary CMC surfaces in certain $3$-dimensional submanifolds of some Euclidean space. When the mean curvature is large enough we are able to prove that the index of a CMC surface in an arbitrary $3$-manifold is bounded below by a linear function of its genus., Comment: 19 pages, minor corrections and further applications

Published
2019

13. P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

Author

De Winter, J., primary, Van de Vondel, L., additional, Bonne, G., additional, Stojkovic, T., additional, Elouej, S., additional, Grandi, F., additional, Smeriglio, P., additional, Palmio, J., additional, Johari, M., additional, Hackman, P., additional, Savarese, M., additional, Udd, B., additional, Meyer, A., additional, Nicolau, S., additional, Flanigan, K., additional, Waldrop, M., additional, Longman, C., additional, Diaz-Manera, J., additional, Töpf, A., additional, and Baets, J., additional

Published
2023
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14. P84 Assessing infants & toddlers with neuromuscular disorders under 5 years of age using the Neuromuscular Gross Motor Outcome (GRO)

Author

Iammarino, M., primary, Reash, N., additional, Pietruszewski, L., additional, Smith, M., additional, Lammers, J., additional, Waldrop, M., additional, Tsao, C., additional, Chagat, S., additional, Nicolau, S., additional, Flanigan, K., additional, Connolly, A., additional, Mendell, J., additional, Lowes, L., additional, and Alfano, L., additional

Published
2023
Full Text
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17. Language production impairments in patients with a first episode of psychosis

Author

Gargano, G, Caletti, E, Perlini, C, Turtulici, N, Bellani, M, Bonivento, C, Garzitto, M, Siri, F, Longo, C, Bonetto, C, Cristofalo, D, Scocco, P, Semrov, E, Preti, A, Lazzarotto, L, Gardellin, F, Lasalvia, A, Ruggeri, M, Marini, A, Brambilla, P, Bertani, M, Bissoli, S, De Santi, K, Lunardi, S, Negretto, V, Poli, S, Tosato, S, Zamboni, M, Ballarin, M, De Girolamo, G, Fioritti, A, Neri, G, Pileggi, F, Rucci, P, Chiavetto, L, Scasselatti, C, Zanardini, R, Bertoldo, A, Marinelli, V, Rambaldelli, G, Bardella, S, Lamonaca, D, Lunardon, M, Magnabosco, R, Martucci, M, Nicolau, S, Nifosi, F, Pavanati, M, Rossi, M, Piazza, C, Piccione, G, Sala, A, Sale, A, Stefani, B, Zotos, S, Balbo, M, Boggian, I, Ceccato, E, Dall'Agnola, R, Girotto, B, Goss, C, Leoni, R, Mai, A, Pasqualini, A, Roccato, S, Rossi, A, Strizzolo, S, Urbani, A, Aldi, F, Bianchi, B, Cappellari, P, Conti, R, De Battisti, L, Lazzarin, E, Merlin, S, Migliorini, G, Pozzan, T, Sarto, L, Visona, S, Brazzoli, A, Campi, A, Carmagnani, R, Giambelli, S, Gianella, A, Lunardi, L, Madaghiele, D, Maestrelli, P, Paiola, L, Posteri, E, Viola, L, Zamberlan, V, Zenari, M, Zanoni, M, Bonadonna, G, Bonomo, M, Santonastaso, P, Cremonese, C, Veronese, A, Anderle, P, Angelozzi, A, Baron, I, Candeago, E, Castelli, F, Chieco, M, Di Costanzo, E, Derossi, M, Doriguzzi, M, Galvano, O, Lattanzi, M, Lezzi, R, Marcato, M, Marcolin, A, Marini, F, Matranga, M, Scalabrin, D, Zucchetto, M, Zadro, F, Austoni, G, Bianco, M, Bordino, F, Dario, F, De Risio, A, Gatto, A, Grana, S, Favero, E, Franceschini, A, Friederici, S, Marangon, V, Pascolo, M, Ramon, L, Zambolin, S, Riolo, R, Buffon, A, Di Bortolo, E, Fortin, S, Matarrese, F, Mogni, S, Codemo, N, Russi, A, Silvestro, A, Turella, E, Viel, P, Dominoni, A, Andreose, L, Boemio, M, Bressan, L, Cabbia, A, Canesso, E, Cian, R, Dal Piccol, C, Pasqua, M, Di Prisco, A, Mantellato, L, Luison, M, Morgante, S, Santi, M, Sacillotto, M, Scabbio, M, Sponga, P, Sguotto, M, Stach, F, Vettorato, M, Martinello, G, Dassie, F, Marino, S, Cibiniel, L, Masetto, I, Cabianca, O, Valente, A, Caberlotto, L, Passoni, A, Flumian, P, Daniel, L, Gion, M, Stanziale, S, Alborino, F, Bortolozzo, V, Bacelle, L, Bicciato, L, Basso, D, Navaglia, F, Manoni, F, Ercolin, M, Giubilini, F, Imbesi, M, Leuci, E, Mazzi, F, Anelli, S, Amore, M, Bigi, L, Britta, W, Anna, G, Bonatti, U, Borziani, M, Crosato, S, Fabris, I, Galluccio, R, Galeotti, M, Gozzi, M, Greco, V, Guagnini, E, Pagani, S, Maccherozzi, S, Malvasi, R, Marchi, F, Melato, E, Mazzucchi, E, Marzullo, F, Pellegrini, P, Petrolini, N, Volta, P, Bonara, F, Brusamonti, E, Croci, R, Flamia, I, Fontana, F, Losi, R, Marchioro, R, Raffaini, L, Ruju, L, Saginario, A, Tondelli, M, Marrama, D, Bernardelli, L, Bonacini, F, Florindo, A, Merli, M, Nappo, P, Sola, L, Tondelli, O, Tonna, M, Torre, M, Tosatti, M, Venturelli, G, Zampolla, D, Bernardi, A, Cavalli, C, Cigala, L, Ciraudo, C, Di Bari, A, Ferri, L, Gombi, F, Leurini, S, Mandatelli, E, Maccaferri, S, Oroboncoide, M, Pisa, B, Ricci, C, Poggi, E, Zurlini, C, Malpeli, M, Colla, R, Teodori, E, Vecchia, L, D'Andrea, R, Trenti, T, Paolini, P, Carpeggiani, P, Ghigi, D, Gagliostro, M, Pratelli, M, Antonelli, A, Battistini, L, Bellini, F, Bonini, E, Capelli, C, Didomizio, C, Drei, C, Fucci, G, Gualandi, A, Grazia, M, Losi, A, Mazzoni, F, Marangoni, D, Monna, G, Morselli, M, Oggioni, A, Oprandi, S, Paganelli, W, Passerini, M, Piscitelli, M, Reggiani, G, Rossi, G, Salvatori, F, Trasforini, S, Uslenghi, C, Veggetti, S, Bartolucci, G, Baruffa, R, Bertelli, R, Borghi, L, Ciavarella, P, Paltrinieri, E, Rizzardi, F, Serra, P, Suzzi, D, Arienti, P, Aureli, F, Avanzi, R, Callegari, V, Corsino, A, Host, P, Michetti, R, Rizzo, F, Simoncelli, P, Soldati, E, Succi, E, Bertozzi, M, Canetti, E, Cavicchioli, L, Ceccarelli, E, Cenni, S, Marzola, G, Gallina, V, Leoni, C, Olivieri, A, Piccolo, E, Ravagli, S, Russo, R, Tedeschini, D, Verenini, M, Abram, W, Granata, V, Curcio, A, Guerra, G, Granini, S, Natali, L, Montanari, E, Pasi, F, Ventura, U, Valenti, S, Francesca, M, Farneti, R, Ravagli, P, Floris, R, Maroncelli, O, Volpones, G, Casali, D, Miceli, M, Bencini, A, Cellini, M, De Biase, L, Barbara, L, Charles, L, Pratesi, C, Tanini, A, Loparrino, R, Ulivelli, C, Cussoto, C, Dei, N, Fumanti, E, Pantani, M, Zeloni, G, Bellini, R, Cellesi, R, Dorigo, N, Gulli, P, Ialeggio, L, Pisanu, M, Rinaldi, G, Konze, A, Cocchi, A, Meneghelli, A, Frova, M, Monzani, E, Zanobio, A, Malagoli, M, Pagani, R, Barbera, S, Morganti, C, Amade, E, Brambilla, V, Montanari, A, Caterina, G, Lopez, C, Marocchi, A, Moletta, A, Sberna, M, Cascio, M, Scarone, S, Gargano G., Caletti E., Perlini C., Turtulici N., Bellani M., Bonivento C., Garzitto M., Siri F. M., Longo C., Bonetto C., Cristofalo D., Scocco P., Semrov E., Preti A., Lazzarotto L., Gardellin F., Lasalvia A., Ruggeri M., Marini A., Brambilla P., Bertani M. E., Bissoli S., De Santi K., Lunardi S., Negretto V., Poli S., Tosato S., Zamboni M. G., Ballarin M., De Girolamo G., Fioritti A., Neri G., Pileggi F., Rucci P., Chiavetto L. B., Scasselatti C., Zanardini R., Bertoldo A., Marinelli V., Rambaldelli G., Bardella S., Lamonaca D., Lunardon M., Magnabosco R., Martucci M., Nicolau S., Nifosi F., Pavanati M., Rossi M., Piazza C., Piccione G., Sala A., Sale A., Stefani B., Zotos S., Balbo M., Boggian I., Ceccato E., Dall'Agnola R., Girotto B., Goss C., Leoni R., Mai A., Pasqualini A., Roccato S., Rossi A., Strizzolo S., Urbani A., Aldi F., Bianchi B., Cappellari P., Conti R., De Battisti L., Lazzarin E., Merlin S., Migliorini G., Pozzan T., Sarto L., Visona S., Brazzoli A., Campi A., Carmagnani R., Giambelli S., Gianella A., Lunardi L., Madaghiele D., Maestrelli P., Paiola L., Posteri E., Viola L., Zamberlan V., Zenari M., Zanoni M., Bonadonna G., Bonomo M., Santonastaso P., Cremonese C., Veronese A., Anderle P., Angelozzi A., Baron I. A. G., Candeago E. B. F., Castelli F., Chieco M., Di Costanzo E., Derossi M., Doriguzzi M., Galvano O., Lattanzi M., Lezzi R., Marcato M., Marcolin A., Marini F., Matranga M., Scalabrin D., Zucchetto M., Zadro F., Austoni G., Bianco M., Bordino F., Dario F., De Risio A., Gatto A., Grana S., Favero E., Franceschini A., Friederici S., Marangon V., Pascolo M., Ramon L., Zambolin S., Riolo R., Buffon A., Di Bortolo E., Fortin S., Matarrese F., Mogni S., Codemo N., Russi A., Silvestro A., Turella E., Viel P., Dominoni A., Andreose L., Boemio M., Bressan L., Cabbia A., Canesso E., Cian R., Dal Piccol C., Pasqua M. M. D., Di Prisco A., Mantellato L., Luison M., Morgante S., Santi M., Sacillotto M., Scabbio M., Sponga P., Sguotto M., Stach F., Vettorato M., Martinello G., Dassie F., Marino S., Cibiniel L., Masetto I., Cabianca O., Valente A., Caberlotto L., Passoni A., Flumian P., Daniel L., Gion M., Stanziale S., Alborino F., Bortolozzo V., Bacelle L., Bicciato L., Basso D., Navaglia F., Manoni F., Ercolin M., Giubilini F., Imbesi M., Leuci E., Mazzi F., Anelli S., Amore M., Bigi L., Britta W., Anna G. B., Bonatti U., Borziani M., Crosato S., Fabris I., Galluccio R., Galeotti M., Gozzi M., Greco V., Guagnini E., Pagani S., Maccherozzi S., Malvasi R., Marchi F., Melato E., Mazzucchi E., Marzullo F., Pellegrini P., Petrolini N., Volta P., Bonara F., Brusamonti E., Croci R., Flamia I., Fontana F., Losi R., Marchioro R., Raffaini L., Ruju L., Saginario A., Tondelli M., Marrama D., Bernardelli L., Bonacini F., Florindo A., Merli M., Nappo P., Sola L., Tondelli O., Tonna M., Torre M., Tosatti M., Venturelli G., Zampolla D., Bernardi A., Cavalli C., Cigala L., Ciraudo C., Di Bari A., Ferri L., Gombi F., Leurini S., Mandatelli E., Maccaferri S., Oroboncoide M., Pisa B., Ricci C., Poggi E., Zurlini C., Malpeli M., Colla R., Teodori E., Vecchia L., D'Andrea R., Trenti T., Paolini P., Carpeggiani P., Ghigi D., Gagliostro M., Pratelli M., Antonelli A., Battistini L., Bellini F., Bonini E., Capelli C. B. R., DiDomizio C., Drei C., Fucci G., Gualandi A., Grazia M. R., Losi A. M., Mazzoni F. M. P., Marangoni D., Monna G., Morselli M., Oggioni A., Oprandi S., Paganelli W., Passerini M., Piscitelli M., Reggiani G., Rossi G., Salvatori F., Trasforini S., Uslenghi C., Veggetti S., Bartolucci G., Baruffa R., Bertelli R., Borghi L., Ciavarella P., Paltrinieri E., Rizzardi F., Serra P., Suzzi D., Arienti P., Aureli F., Avanzi R., Callegari V., Corsino A., Host P., Michetti R., Rizzo F., Simoncelli P., Soldati E., Succi E., Bertozzi M., Canetti E., Cavicchioli L., Ceccarelli E., Cenni S., Marzola G., Gallina V., Leoni C., Olivieri A., Piccolo E., Ravagli S., Russo R., Tedeschini D., Verenini M., Abram W., Granata V., Curcio A., Guerra G., Granini S., Natali L., Montanari E., Pasi F., Ventura U., Valenti S., Francesca M., Farneti R., Ravagli P., Floris R., Maroncelli O., Volpones G., Casali D., Miceli M., Bencini A., Cellini M., De Biase L., Barbara L., Charles L., Pratesi C., Tanini A., Loparrino R., Ulivelli C., Cussoto C., Dei N., Fumanti E., Pantani M., Zeloni G., Bellini R., Cellesi R., Dorigo N., Gulli P., Ialeggio L., Pisanu M., Rinaldi G., Konze A., Cocchi A., Meneghelli A., Frova M., Monzani E., Zanobio A., Malagoli M., Pagani R., Barbera S., Morganti C., Amade E. S., Brambilla V., Montanari A., Caterina G., Lopez C., Marocchi A., Moletta A., Sberna M., Cascio M. T., Scarone S., Gargano, G, Caletti, E, Perlini, C, Turtulici, N, Bellani, M, Bonivento, C, Garzitto, M, Siri, F, Longo, C, Bonetto, C, Cristofalo, D, Scocco, P, Semrov, E, Preti, A, Lazzarotto, L, Gardellin, F, Lasalvia, A, Ruggeri, M, Marini, A, Brambilla, P, Bertani, M, Bissoli, S, De Santi, K, Lunardi, S, Negretto, V, Poli, S, Tosato, S, Zamboni, M, Ballarin, M, De Girolamo, G, Fioritti, A, Neri, G, Pileggi, F, Rucci, P, Chiavetto, L, Scasselatti, C, Zanardini, R, Bertoldo, A, Marinelli, V, Rambaldelli, G, Bardella, S, Lamonaca, D, Lunardon, M, Magnabosco, R, Martucci, M, Nicolau, S, Nifosi, F, Pavanati, M, Rossi, M, Piazza, C, Piccione, G, Sala, A, Sale, A, Stefani, B, Zotos, S, Balbo, M, Boggian, I, Ceccato, E, Dall'Agnola, R, Girotto, B, Goss, C, Leoni, R, Mai, A, Pasqualini, A, Roccato, S, Rossi, A, Strizzolo, S, Urbani, A, Aldi, F, Bianchi, B, Cappellari, P, Conti, R, De Battisti, L, Lazzarin, E, Merlin, S, Migliorini, G, Pozzan, T, Sarto, L, Visona, S, Brazzoli, A, Campi, A, Carmagnani, R, Giambelli, S, Gianella, A, Lunardi, L, Madaghiele, D, Maestrelli, P, Paiola, L, Posteri, E, Viola, L, Zamberlan, V, Zenari, M, Zanoni, M, Bonadonna, G, Bonomo, M, Santonastaso, P, Cremonese, C, Veronese, A, Anderle, P, Angelozzi, A, Baron, I, Candeago, E, Castelli, F, Chieco, M, Di Costanzo, E, Derossi, M, Doriguzzi, M, Galvano, O, Lattanzi, M, Lezzi, R, Marcato, M, Marcolin, A, Marini, F, Matranga, M, Scalabrin, D, Zucchetto, M, Zadro, F, Austoni, G, Bianco, M, Bordino, F, Dario, F, De Risio, A, Gatto, A, Grana, S, Favero, E, Franceschini, A, Friederici, S, Marangon, V, Pascolo, M, Ramon, L, Zambolin, S, Riolo, R, Buffon, A, Di Bortolo, E, Fortin, S, Matarrese, F, Mogni, S, Codemo, N, Russi, A, Silvestro, A, Turella, E, Viel, P, Dominoni, A, Andreose, L, Boemio, M, Bressan, L, Cabbia, A, Canesso, E, Cian, R, Dal Piccol, C, Pasqua, M, Di Prisco, A, Mantellato, L, Luison, M, Morgante, S, Santi, M, Sacillotto, M, Scabbio, M, Sponga, P, Sguotto, M, Stach, F, Vettorato, M, Martinello, G, Dassie, F, Marino, S, Cibiniel, L, Masetto, I, Cabianca, O, Valente, A, Caberlotto, L, Passoni, A, Flumian, P, Daniel, L, Gion, M, Stanziale, S, Alborino, F, Bortolozzo, V, Bacelle, L, Bicciato, L, Basso, D, Navaglia, F, Manoni, F, Ercolin, M, Giubilini, F, Imbesi, M, Leuci, E, Mazzi, F, Anelli, S, Amore, M, Bigi, L, Britta, W, Anna, G, Bonatti, U, Borziani, M, Crosato, S, Fabris, I, Galluccio, R, Galeotti, M, Gozzi, M, Greco, V, Guagnini, E, Pagani, S, Maccherozzi, S, Malvasi, R, Marchi, F, Melato, E, Mazzucchi, E, Marzullo, F, Pellegrini, P, Petrolini, N, Volta, P, Bonara, F, Brusamonti, E, Croci, R, Flamia, I, Fontana, F, Losi, R, Marchioro, R, Raffaini, L, Ruju, L, Saginario, A, Tondelli, M, Marrama, D, Bernardelli, L, Bonacini, F, Florindo, A, Merli, M, Nappo, P, Sola, L, Tondelli, O, Tonna, M, Torre, M, Tosatti, M, Venturelli, G, Zampolla, D, Bernardi, A, Cavalli, C, Cigala, L, Ciraudo, C, Di Bari, A, Ferri, L, Gombi, F, Leurini, S, Mandatelli, E, Maccaferri, S, Oroboncoide, M, Pisa, B, Ricci, C, Poggi, E, Zurlini, C, Malpeli, M, Colla, R, Teodori, E, Vecchia, L, D'Andrea, R, Trenti, T, Paolini, P, Carpeggiani, P, Ghigi, D, Gagliostro, M, Pratelli, M, Antonelli, A, Battistini, L, Bellini, F, Bonini, E, Capelli, C, Didomizio, C, Drei, C, Fucci, G, Gualandi, A, Grazia, M, Losi, A, Mazzoni, F, Marangoni, D, Monna, G, Morselli, M, Oggioni, A, Oprandi, S, Paganelli, W, Passerini, M, Piscitelli, M, Reggiani, G, Rossi, G, Salvatori, F, Trasforini, S, Uslenghi, C, Veggetti, S, Bartolucci, G, Baruffa, R, Bertelli, R, Borghi, L, Ciavarella, P, Paltrinieri, E, Rizzardi, F, Serra, P, Suzzi, D, Arienti, P, Aureli, F, Avanzi, R, Callegari, V, Corsino, A, Host, P, Michetti, R, Rizzo, F, Simoncelli, P, Soldati, E, Succi, E, Bertozzi, M, Canetti, E, Cavicchioli, L, Ceccarelli, E, Cenni, S, Marzola, G, Gallina, V, Leoni, C, Olivieri, A, Piccolo, E, Ravagli, S, Russo, R, Tedeschini, D, Verenini, M, Abram, W, Granata, V, Curcio, A, Guerra, G, Granini, S, Natali, L, Montanari, E, Pasi, F, Ventura, U, Valenti, S, Francesca, M, Farneti, R, Ravagli, P, Floris, R, Maroncelli, O, Volpones, G, Casali, D, Miceli, M, Bencini, A, Cellini, M, De Biase, L, Barbara, L, Charles, L, Pratesi, C, Tanini, A, Loparrino, R, Ulivelli, C, Cussoto, C, Dei, N, Fumanti, E, Pantani, M, Zeloni, G, Bellini, R, Cellesi, R, Dorigo, N, Gulli, P, Ialeggio, L, Pisanu, M, Rinaldi, G, Konze, A, Cocchi, A, Meneghelli, A, Frova, M, Monzani, E, Zanobio, A, Malagoli, M, Pagani, R, Barbera, S, Morganti, C, Amade, E, Brambilla, V, Montanari, A, Caterina, G, Lopez, C, Marocchi, A, Moletta, A, Sberna, M, Cascio, M, Scarone, S, Gargano G., Caletti E., Perlini C., Turtulici N., Bellani M., Bonivento C., Garzitto M., Siri F. M., Longo C., Bonetto C., Cristofalo D., Scocco P., Semrov E., Preti A., Lazzarotto L., Gardellin F., Lasalvia A., Ruggeri M., Marini A., Brambilla P., Bertani M. E., Bissoli S., De Santi K., Lunardi S., Negretto V., Poli S., Tosato S., Zamboni M. G., Ballarin M., De Girolamo G., Fioritti A., Neri G., Pileggi F., Rucci P., Chiavetto L. B., Scasselatti C., Zanardini R., Bertoldo A., Marinelli V., Rambaldelli G., Bardella S., Lamonaca D., Lunardon M., Magnabosco R., Martucci M., Nicolau S., Nifosi F., Pavanati M., Rossi M., Piazza C., Piccione G., Sala A., Sale A., Stefani B., Zotos S., Balbo M., Boggian I., Ceccato E., Dall'Agnola R., Girotto B., Goss C., Leoni R., Mai A., Pasqualini A., Roccato S., Rossi A., Strizzolo S., Urbani A., Aldi F., Bianchi B., Cappellari P., Conti R., De Battisti L., Lazzarin E., Merlin S., Migliorini G., Pozzan T., Sarto L., Visona S., Brazzoli A., Campi A., Carmagnani R., Giambelli S., Gianella A., Lunardi L., Madaghiele D., Maestrelli P., Paiola L., Posteri E., Viola L., Zamberlan V., Zenari M., Zanoni M., Bonadonna G., Bonomo M., Santonastaso P., Cremonese C., Veronese A., Anderle P., Angelozzi A., Baron I. A. G., Candeago E. B. F., Castelli F., Chieco M., Di Costanzo E., Derossi M., Doriguzzi M., Galvano O., Lattanzi M., Lezzi R., Marcato M., Marcolin A., Marini F., Matranga M., Scalabrin D., Zucchetto M., Zadro F., Austoni G., Bianco M., Bordino F., Dario F., De Risio A., Gatto A., Grana S., Favero E., Franceschini A., Friederici S., Marangon V., Pascolo M., Ramon L., Zambolin S., Riolo R., Buffon A., Di Bortolo E., Fortin S., Matarrese F., Mogni S., Codemo N., Russi A., Silvestro A., Turella E., Viel P., Dominoni A., Andreose L., Boemio M., Bressan L., Cabbia A., Canesso E., Cian R., Dal Piccol C., Pasqua M. M. D., Di Prisco A., Mantellato L., Luison M., Morgante S., Santi M., Sacillotto M., Scabbio M., Sponga P., Sguotto M., Stach F., Vettorato M., Martinello G., Dassie F., Marino S., Cibiniel L., Masetto I., Cabianca O., Valente A., Caberlotto L., Passoni A., Flumian P., Daniel L., Gion M., Stanziale S., Alborino F., Bortolozzo V., Bacelle L., Bicciato L., Basso D., Navaglia F., Manoni F., Ercolin M., Giubilini F., Imbesi M., Leuci E., Mazzi F., Anelli S., Amore M., Bigi L., Britta W., Anna G. B., Bonatti U., Borziani M., Crosato S., Fabris I., Galluccio R., Galeotti M., Gozzi M., Greco V., Guagnini E., Pagani S., Maccherozzi S., Malvasi R., Marchi F., Melato E., Mazzucchi E., Marzullo F., Pellegrini P., Petrolini N., Volta P., Bonara F., Brusamonti E., Croci R., Flamia I., Fontana F., Losi R., Marchioro R., Raffaini L., Ruju L., Saginario A., Tondelli M., Marrama D., Bernardelli L., Bonacini F., Florindo A., Merli M., Nappo P., Sola L., Tondelli O., Tonna M., Torre M., Tosatti M., Venturelli G., Zampolla D., Bernardi A., Cavalli C., Cigala L., Ciraudo C., Di Bari A., Ferri L., Gombi F., Leurini S., Mandatelli E., Maccaferri S., Oroboncoide M., Pisa B., Ricci C., Poggi E., Zurlini C., Malpeli M., Colla R., Teodori E., Vecchia L., D'Andrea R., Trenti T., Paolini P., Carpeggiani P., Ghigi D., Gagliostro M., Pratelli M., Antonelli A., Battistini L., Bellini F., Bonini E., Capelli C. B. R., DiDomizio C., Drei C., Fucci G., Gualandi A., Grazia M. R., Losi A. M., Mazzoni F. M. P., Marangoni D., Monna G., Morselli M., Oggioni A., Oprandi S., Paganelli W., Passerini M., Piscitelli M., Reggiani G., Rossi G., Salvatori F., Trasforini S., Uslenghi C., Veggetti S., Bartolucci G., Baruffa R., Bertelli R., Borghi L., Ciavarella P., Paltrinieri E., Rizzardi F., Serra P., Suzzi D., Arienti P., Aureli F., Avanzi R., Callegari V., Corsino A., Host P., Michetti R., Rizzo F., Simoncelli P., Soldati E., Succi E., Bertozzi M., Canetti E., Cavicchioli L., Ceccarelli E., Cenni S., Marzola G., Gallina V., Leoni C., Olivieri A., Piccolo E., Ravagli S., Russo R., Tedeschini D., Verenini M., Abram W., Granata V., Curcio A., Guerra G., Granini S., Natali L., Montanari E., Pasi F., Ventura U., Valenti S., Francesca M., Farneti R., Ravagli P., Floris R., Maroncelli O., Volpones G., Casali D., Miceli M., Bencini A., Cellini M., De Biase L., Barbara L., Charles L., Pratesi C., Tanini A., Loparrino R., Ulivelli C., Cussoto C., Dei N., Fumanti E., Pantani M., Zeloni G., Bellini R., Cellesi R., Dorigo N., Gulli P., Ialeggio L., Pisanu M., Rinaldi G., Konze A., Cocchi A., Meneghelli A., Frova M., Monzani E., Zanobio A., Malagoli M., Pagani R., Barbera S., Morganti C., Amade E. S., Brambilla V., Montanari A., Caterina G., Lopez C., Marocchi A., Moletta A., Sberna M., Cascio M. T., and Scarone S.

Abstract

Language production has often been described as impaired in psychiatric diseases such as in psychosis. Nevertheless, little is known about the characteristics of linguistic difficulties and their relation with other cognitive domains in patients with a first episode of psychosis (FEP), either affective or non-affective. To deepen our comprehension of linguistic profile in FEP, 133 patients with FEP (95 non-affective, FEP-NA; 38 affective, FEP-A) and 133 healthy controls (HC) were assessed with a narrative discourse task. Speech samples were systematically analyzed with a well-established multilevel procedure investigating both micro- (lexicon, morphology, syntax) and macro-linguistic (discourse coherence, pragmatics) levels of linguistic processing. Executive functioning and IQ were also evaluated. Both linguistic and neuropsychological measures were secondarily implemented with a machine learning approach in order to explore their predictive accuracy in classifying participants as FEP or HC. Compared to HC, FEP patients showed language production difficulty at both micro- and macro-linguistic levels. As for the former, FEP produced shorter and simpler sentences and fewer words per minute, along with a reduced number of lexical fillers, compared to HC. At the macro-linguistic level, FEP performance was impaired in local coherence, which was paired with a higher percentage of utterances with semantic errors. Linguistic measures were not correlated with any neuropsychological variables. No significant differences emerged between FEP-NA and FEP-A (p≥0.02, after Bonferroni correction). Machine learning analysis showed an accuracy of group prediction of 76.36% using language features only, with semantic variables being the most impactful. Such a percentage was enhanced when paired with clinical and neuropsychological variables. Results confirm the presence of language production deficits already at the first episode of the illness, being such impairment not related to ot

Published
2022

18. RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

Author

O'Connor, T.N., Bersselaar, L.R. van den, Chen, Y.S., Nicolau, S., Simon, B., Huseth, A., Todd, J.J., Petegem, F. van, Sarkozy, A., Goldberg, M.F., Voermans, N.C., Dirksen, R.T., O'Connor, T.N., Bersselaar, L.R. van den, Chen, Y.S., Nicolau, S., Simon, B., Huseth, A., Todd, J.J., Petegem, F. van, Sarkozy, A., Goldberg, M.F., Voermans, N.C., and Dirksen, R.T.

Abstract

Item does not contain fulltext

Published
2023

19. Fluorescence-Based Enhanced Reality for Colorectal Endoscopic Surgery

Author

Selka, F., Agnus, V., Nicolau, S., Bessaid, A., Soler, L., Marescaux, J., Diana, M., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Kobsa, Alfred, editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Weikum, Gerhard, editor, Ourselin, Sébastien, editor, and Modat, Marc, editor

Published
2014
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24. Simulation of Pneumoperitoneum for Laparoscopic Surgery Planning

Author

Bano, J., Hostettler, A., Nicolau, S. A., Cotin, S., Doignon, C., Wu, H. S., Huang, M. H., Soler, L., Marescaux, J., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Ayache, Nicholas, editor, Delingette, Hervé, editor, Golland, Polina, editor, and Mori, Kensaku, editor

Published
2012
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25. Simulation of the Abdominal Wall and Its Arteries after Pneumoperitoneum for Guidance of Port Positioning in Laparoscopic Surgery

Author

Bano, J., Hostettler, A., Nicolau, S. A., Doignon, C., Wu, H. S., Huang, M. H., Soler, L., Marescaux, J., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Bebis, George, editor, Boyle, Richard, editor, Parvin, Bahram, editor, Koracin, Darko, editor, Fowlkes, Charless, editor, Wang, Sen, editor, Choi, Min-Hyung, editor, Mantler, Stephan, editor, Schulze, Jürgen, editor, Acevedo, Daniel, editor, Mueller, Klaus, editor, and Papka, Michael, editor

Published
2012
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30. Language production impairments in patients with a first episode of psychosis

Author

Gargano G., Caletti E., Perlini C., Turtulici N., Bellani M., Bonivento C., Garzitto M., Siri F. M., Longo C., Bonetto C., Cristofalo D., Scocco P., Semrov E., Preti A., Lazzarotto L., Gardellin F., Lasalvia A., Ruggeri M., Marini A., Brambilla P., Bertani M. E., Bissoli S., De Santi K., Lunardi S., Negretto V., Poli S., Tosato S., Zamboni M. G., Ballarin M., De Girolamo G., Fioritti A., Neri G., Pileggi F., Rucci P., Chiavetto L. B., Scasselatti C., Zanardini R., Bertoldo A., Marinelli V., Rambaldelli G., Bardella S., Lamonaca D., Lunardon M., Magnabosco R., Martucci M., Nicolau S., Nifosi F., Pavanati M., Rossi M., Piazza C., Piccione G., Sala A., Sale A., Stefani B., Zotos S., Balbo M., Boggian I., Ceccato E., Dall'Agnola R., Girotto B., Goss C., Leoni R., Mai A., Pasqualini A., Roccato S., Rossi A., Strizzolo S., Urbani A., Aldi F., Bianchi B., Cappellari P., Conti R., De Battisti L., Lazzarin E., Merlin S., Migliorini G., Pozzan T., Sarto L., Visona S., Brazzoli A., Campi A., Carmagnani R., Giambelli S., Gianella A., Lunardi L., Madaghiele D., Maestrelli P., Paiola L., Posteri E., Viola L., Zamberlan V., Zenari M., Zanoni M., Bonadonna G., Bonomo M., Santonastaso P., Cremonese C., Veronese A., Anderle P., Angelozzi A., Baron I. A. G., Candeago E. B. F., Castelli F., Chieco M., Di Costanzo E., Derossi M., Doriguzzi M., Galvano O., Lattanzi M., Lezzi R., Marcato M., Marcolin A., Marini F., Matranga M., Scalabrin D., Zucchetto M., Zadro F., Austoni G., Bianco M., Bordino F., Dario F., De Risio A., Gatto A., Grana S., Favero E., Franceschini A., Friederici S., Marangon V., Pascolo M., Ramon L., Zambolin S., Riolo R., Buffon A., Di Bortolo E., Fortin S., Matarrese F., Mogni S., Codemo N., Russi A., Silvestro A., Turella E., Viel P., Dominoni A., Andreose L., Boemio M., Bressan L., Cabbia A., Canesso E., Cian R., Dal Piccol C., Pasqua M. M. D., Di Prisco A., Mantellato L., Luison M., Morgante S., Santi M., Sacillotto M., Scabbio M., Sponga P., Sguotto M., Stach F., Vettorato M., Martinello G., Dassie F., Marino S., Cibiniel L., Masetto I., Cabianca O., Valente A., Caberlotto L., Passoni A., Flumian P., Daniel L., Gion M., Stanziale S., Alborino F., Bortolozzo V., Bacelle L., Bicciato L., Basso D., Navaglia F., Manoni F., Ercolin M., Giubilini F., Imbesi M., Leuci E., Mazzi F., Anelli S., Amore M., Bigi L., Britta W., Anna G. B., Bonatti U., Borziani M., Crosato S., Fabris I., Galluccio R., Galeotti M., Gozzi M., Greco V., Guagnini E., Pagani S., Maccherozzi S., Malvasi R., Marchi F., Melato E., Mazzucchi E., Marzullo F., Pellegrini P., Petrolini N., Volta P., Bonara F., Brusamonti E., Croci R., Flamia I., Fontana F., Losi R., Marchioro R., Raffaini L., Ruju L., Saginario A., Tondelli M., Marrama D., Bernardelli L., Bonacini F., Florindo A., Merli M., Nappo P., Sola L., Tondelli O., Tonna M., Torre M., Tosatti M., Venturelli G., Zampolla D., Bernardi A., Cavalli C., Cigala L., Ciraudo C., Di Bari A., Ferri L., Gombi F., Leurini S., Mandatelli E., Maccaferri S., Oroboncoide M., Pisa B., Ricci C., Poggi E., Zurlini C., Malpeli M., Colla R., Teodori E., Vecchia L., D'Andrea R., Trenti T., Paolini P., Carpeggiani P., Ghigi D., Gagliostro M., Pratelli M., Antonelli A., Battistini L., Bellini F., Bonini E., Capelli C. B. R., DiDomizio C., Drei C., Fucci G., Gualandi A., Grazia M. R., Losi A. M., Mazzoni F. M. P., Marangoni D., Monna G., Morselli M., Oggioni A., Oprandi S., Paganelli W., Passerini M., Piscitelli M., Reggiani G., Rossi G., Salvatori F., Trasforini S., Uslenghi C., Veggetti S., Bartolucci G., Baruffa R., Bertelli R., Borghi L., Ciavarella P., Paltrinieri E., Rizzardi F., Serra P., Suzzi D., Arienti P., Aureli F., Avanzi R., Callegari V., Corsino A., Host P., Michetti R., Rizzo F., Simoncelli P., Soldati E., Succi E., Bertozzi M., Canetti E., Cavicchioli L., Ceccarelli E., Cenni S., Marzola G., Gallina V., Leoni C., Olivieri A., Piccolo E., Ravagli S., Russo R., Tedeschini D., Verenini M., Abram W., Granata V., Curcio A., Guerra G., Granini S., Natali L., Montanari E., Pasi F., Ventura U., Valenti S., Francesca M., Farneti R., Ravagli P., Floris R., Maroncelli O., Volpones G., Casali D., Miceli M., Bencini A., Cellini M., De Biase L., Barbara L., Charles L., Pratesi C., Tanini A., Loparrino R., Ulivelli C., Cussoto C., Dei N., Fumanti E., Pantani M., Zeloni G., Bellini R., Cellesi R., Dorigo N., Gulli P., Ialeggio L., Pisanu M., Rinaldi G., Konze A., Cocchi A., Meneghelli A., Frova M., Monzani E., Zanobio A., Malagoli M., Pagani R., Barbera S., Morganti C., Amade E. S., Brambilla V., Montanari A., Caterina G., Lopez C., Marocchi A., Moletta A., Sberna M., Cascio M. T., Scarone S., Gargano, G, Caletti, E, Perlini, C, Turtulici, N, Bellani, M, Bonivento, C, Garzitto, M, Siri, F, Longo, C, Bonetto, C, Cristofalo, D, Scocco, P, Semrov, E, Preti, A, Lazzarotto, L, Gardellin, F, Lasalvia, A, Ruggeri, M, Marini, A, Brambilla, P, Bertani, M, Bissoli, S, De Santi, K, Lunardi, S, Negretto, V, Poli, S, Tosato, S, Zamboni, M, Ballarin, M, De Girolamo, G, Fioritti, A, Neri, G, Pileggi, F, Rucci, P, Chiavetto, L, Scasselatti, C, Zanardini, R, Bertoldo, A, Marinelli, V, Rambaldelli, G, Bardella, S, Lamonaca, D, Lunardon, M, Magnabosco, R, Martucci, M, Nicolau, S, Nifosi, F, Pavanati, M, Rossi, M, Piazza, C, Piccione, G, Sala, A, Sale, A, Stefani, B, Zotos, S, Balbo, M, Boggian, I, Ceccato, E, Dall'Agnola, R, Girotto, B, Goss, C, Leoni, R, Mai, A, Pasqualini, A, Roccato, S, Rossi, A, Strizzolo, S, Urbani, A, Aldi, F, Bianchi, B, Cappellari, P, Conti, R, De Battisti, L, Lazzarin, E, Merlin, S, Migliorini, G, Pozzan, T, Sarto, L, Visona, S, Brazzoli, A, Campi, A, Carmagnani, R, Giambelli, S, Gianella, A, Lunardi, L, Madaghiele, D, Maestrelli, P, Paiola, L, Posteri, E, Viola, L, Zamberlan, V, Zenari, M, Zanoni, M, Bonadonna, G, Bonomo, M, Santonastaso, P, Cremonese, C, Veronese, A, Anderle, P, Angelozzi, A, Baron, I, Candeago, E, Castelli, F, Chieco, M, Di Costanzo, E, Derossi, M, Doriguzzi, M, Galvano, O, Lattanzi, M, Lezzi, R, Marcato, M, Marcolin, A, Marini, F, Matranga, M, Scalabrin, D, Zucchetto, M, Zadro, F, Austoni, G, Bianco, M, Bordino, F, Dario, F, De Risio, A, Gatto, A, Grana, S, Favero, E, Franceschini, A, Friederici, S, Marangon, V, Pascolo, M, Ramon, L, Zambolin, S, Riolo, R, Buffon, A, Di Bortolo, E, Fortin, S, Matarrese, F, Mogni, S, Codemo, N, Russi, A, Silvestro, A, Turella, E, Viel, P, Dominoni, A, Andreose, L, Boemio, M, Bressan, L, Cabbia, A, Canesso, E, Cian, R, Dal Piccol, C, Pasqua, M, Di Prisco, A, Mantellato, L, Luison, M, Morgante, S, Santi, M, Sacillotto, M, Scabbio, M, Sponga, P, Sguotto, M, Stach, F, Vettorato, M, Martinello, G, Dassie, F, Marino, S, Cibiniel, L, Masetto, I, Cabianca, O, Valente, A, Caberlotto, L, Passoni, A, Flumian, P, Daniel, L, Gion, M, Stanziale, S, Alborino, F, Bortolozzo, V, Bacelle, L, Bicciato, L, Basso, D, Navaglia, F, Manoni, F, Ercolin, M, Giubilini, F, Imbesi, M, Leuci, E, Mazzi, F, Anelli, S, Amore, M, Bigi, L, Britta, W, Anna, G, Bonatti, U, Borziani, M, Crosato, S, Fabris, I, Galluccio, R, Galeotti, M, Gozzi, M, Greco, V, Guagnini, E, Pagani, S, Maccherozzi, S, Malvasi, R, Marchi, F, Melato, E, Mazzucchi, E, Marzullo, F, Pellegrini, P, Petrolini, N, Volta, P, Bonara, F, Brusamonti, E, Croci, R, Flamia, I, Fontana, F, Losi, R, Marchioro, R, Raffaini, L, Ruju, L, Saginario, A, Tondelli, M, Marrama, D, Bernardelli, L, Bonacini, F, Florindo, A, Merli, M, Nappo, P, Sola, L, Tondelli, O, Tonna, M, Torre, M, Tosatti, M, Venturelli, G, Zampolla, D, Bernardi, A, Cavalli, C, Cigala, L, Ciraudo, C, Di Bari, A, Ferri, L, Gombi, F, Leurini, S, Mandatelli, E, Maccaferri, S, Oroboncoide, M, Pisa, B, Ricci, C, Poggi, E, Zurlini, C, Malpeli, M, Colla, R, Teodori, E, Vecchia, L, D'Andrea, R, Trenti, T, Paolini, P, Carpeggiani, P, Ghigi, D, Gagliostro, M, Pratelli, M, Antonelli, A, Battistini, L, Bellini, F, Bonini, E, Capelli, C, Didomizio, C, Drei, C, Fucci, G, Gualandi, A, Grazia, M, Losi, A, Mazzoni, F, Marangoni, D, Monna, G, Morselli, M, Oggioni, A, Oprandi, S, Paganelli, W, Passerini, M, Piscitelli, M, Reggiani, G, Rossi, G, Salvatori, F, Trasforini, S, Uslenghi, C, Veggetti, S, Bartolucci, G, Baruffa, R, Bertelli, R, Borghi, L, Ciavarella, P, Paltrinieri, E, Rizzardi, F, Serra, P, Suzzi, D, Arienti, P, Aureli, F, Avanzi, R, Callegari, V, Corsino, A, Host, P, Michetti, R, Rizzo, F, Simoncelli, P, Soldati, E, Succi, E, Bertozzi, M, Canetti, E, Cavicchioli, L, Ceccarelli, E, Cenni, S, Marzola, G, Gallina, V, Leoni, C, Olivieri, A, Piccolo, E, Ravagli, S, Russo, R, Tedeschini, D, Verenini, M, Abram, W, Granata, V, Curcio, A, Guerra, G, Granini, S, Natali, L, Montanari, E, Pasi, F, Ventura, U, Valenti, S, Francesca, M, Farneti, R, Ravagli, P, Floris, R, Maroncelli, O, Volpones, G, Casali, D, Miceli, M, Bencini, A, Cellini, M, De Biase, L, Barbara, L, Charles, L, Pratesi, C, Tanini, A, Loparrino, R, Ulivelli, C, Cussoto, C, Dei, N, Fumanti, E, Pantani, M, Zeloni, G, Bellini, R, Cellesi, R, Dorigo, N, Gulli, P, Ialeggio, L, Pisanu, M, Rinaldi, G, Konze, A, Cocchi, A, Meneghelli, A, Frova, M, Monzani, E, Zanobio, A, Malagoli, M, Pagani, R, Barbera, S, Morganti, C, Amade, E, Brambilla, V, Montanari, A, Caterina, G, Lopez, C, Marocchi, A, Moletta, A, Sberna, M, Cascio, M, and Scarone, S

Subjects
Language Disorders, Multidisciplinary, Comprehension, Humans, Language, Neuropsychological Tests, Psychotic Disorders, Psychosis, Language Disorder, Psychosis, Language, Cognition, Neuropsychology, Cognition, Neuropsychology, Neuropsychological Test, Settore MED/25 - Psichiatria, Human
Abstract

Language production has often been described as impaired in psychiatric diseases such as in psychosis. Nevertheless, little is known about the characteristics of linguistic difficulties and their relation with other cognitive domains in patients with a first episode of psychosis (FEP), either affective or non-affective. To deepen our comprehension of linguistic profile in FEP, 133 patients with FEP (95 non-affective, FEP-NA; 38 affective, FEP-A) and 133 healthy controls (HC) were assessed with a narrative discourse task. Speech samples were systematically analyzed with a well-established multilevel procedure investigating both micro- (lexicon, morphology, syntax) and macro-linguistic (discourse coherence, pragmatics) levels of linguistic processing. Executive functioning and IQ were also evaluated. Both linguistic and neuropsychological measures were secondarily implemented with a machine learning approach in order to explore their predictive accuracy in classifying participants as FEP or HC. Compared to HC, FEP patients showed language production difficulty at both micro- and macro-linguistic levels. As for the former, FEP produced shorter and simpler sentences and fewer words per minute, along with a reduced number of lexical fillers, compared to HC. At the macro-linguistic level, FEP performance was impaired in local coherence, which was paired with a higher percentage of utterances with semantic errors. Linguistic measures were not correlated with any neuropsychological variables. No significant differences emerged between FEP-NA and FEP-A (p≥0.02, after Bonferroni correction). Machine learning analysis showed an accuracy of group prediction of 76.36% using language features only, with semantic variables being the most impactful. Such a percentage was enhanced when paired with clinical and neuropsychological variables. Results confirm the presence of language production deficits already at the first episode of the illness, being such impairment not related to other cognitive domains. The high accuracy obtained by the linguistic set of features in classifying groups support the use of machine learning methods in neuroscience investigations.

Published
2022

31. Clinical Evaluation of a Respiratory Gated Guidance System for Liver Punctures

Author

Nicolau, S. A., Pennec, X., Soler, L., Ayache, N., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Ayache, Nicholas, editor, Ourselin, Sébastien, editor, and Maeder, Anthony, editor

Published
2007
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32. Real Time Simulation of Organ Motions Induced by Breathing: First Evaluation on Patient Data

Author

Hostettler, A., Nicolau, S. A., Forest, C., Soler, L., Remond, Y., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Harders, Matthias, editor, and Székely, Gábor, editor

Published
2006
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33. A Complete Augmented Reality Guidance System for Liver Punctures: First Clinical Evaluation

Author

Nicolau, S. A., Pennec, X., Soler, L., Ayache, N., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Duncan, James S., editor, and Gerig, Guido, editor

Published
2005
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34. An Augmented Reality & Virtuality Interface for a Puncture Guidance System: Design and Validation on an Abdominal Phantom

Author

Nicolau, S., Schmid, J., Pennec, X., Soler, L., Ayache, N., Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Yang, Guang-Zhong, editor, and Jiang, Tian-Zi, editor

Published
2004
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36. 684P Complex duplications containing terminal exon duplications in the DMD gene.

Author

Meyer, A., Nicolau, S., Dunn, D., Gabel, L., Frair, E., Weiss, R., and Flanigan, K.

Subjects
*BECKER muscular dystrophy, *DUCHENNE muscular dystrophy, *CHROMOSOME duplication, *CREATINE kinase, *DEVELOPMENTAL delay
Abstract

Complex DMD duplications involve two or more non-contiguous exons, which may include the terminal exons. Isolated terminal exon duplications oriented in tandem would likely have no impact on protein expression, as termination of translation would occur within the first exon 79. In complex tandem duplications, the phenotype would be predicted to correlate with the reading frame of the non-terminal duplication. Here we report two children with complex duplications where clinical features suggested non-tandem terminal exon orientation. The first is a 2-year-old boy with a family history of Duchenne muscular dystrophy in four male relatives and duplications of exons 50-60 (predicted to be in-frame) and exons 63-79. As tandem in-frame duplications of exons 50-60 have been observed in patients with Becker muscular dystrophy, the severity of the familial phenotype suggested a non-tandem orientation of the terminal duplication. RNA-seq from muscle showed splicing of DMD exon 60 to an inverted transcript from the TAB3 gene, immediately downstream of DMD exon 79. These results are consistent with a duplication extending into TAB3 and being inserted into intron 60 in an inverted orientation. The second patient is an 8-year-old girl with global developmental delay, autism, easy fatigue, and toe walking. Elevated creatine kinase levels (5000-20,000 U/L) led to identification of de novo duplications in DMD of exons 8-9 and 61-79. Muscle biopsy showed moderate myopathic changes and mosaic dystrophin expression. RNA-seq revealed splicing of exon 9 to exon 61, consistent with duplicated exons 61-79 having been transposed into intron 9. Additionally, there was no evidence of exon 9 to 8 splice junctions, suggesting the exon 8-9 duplication did not occur in tandem. Reduced levels of full-length Dp427m transcript were also noted, compatible with skewed X-inactivation. These cases highlight the value of RNA-seq in determining the functional impact of terminal DMD gene duplications. [ABSTRACT FROM AUTHOR]

Published
2024
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37. 679P Clinical and molecular characterization of DMD pseudo-3'-terminal exons.

Author

Frair, E., Nicolau, S., Meyer, A., Vetter, T., Dunn, D., Gabel, L., Waldrop, M., Weiss, R., and Flanigan, K.

Subjects
*BECKER muscular dystrophy, *RNA sequencing, *GENETIC transcription, *PHENOTYPES, *INTRONS
Abstract

DMD pseudoexon mutations are an underrecognized class of mutations, as they typically require RNA sequencing of muscle tissue for identification. Most are point mutations that create a splice acceptor or donor site and result in the inclusion of intronic sequence as a cassette pseudoexon within DMD mRNA. We have recently described a novel class of pseudo-3'-terminal exons (type 1c) which activate intronic transcription termination. These were identified in Becker muscular dystrophy (BMD) patients with point mutations in introns 43 (c.6290+3076A>G) and 61 (c.9163+2510G>A). Each creates a cryptic splice acceptor site leading to a pseudo-3'-terminal exon coupled with cleavage/polyadenylation and downstream premature transcription termination. We have subsequently identified two more patients. One has an SVA family retrotransposon insertion into intron 60, leading to premature transcription termination within the inserted SVA element and creation of a pseudo-terminal exon derived from exon 60 and intron 60. He presented with a BMD phenotype, likely explained by a modest level (∼5%) of residual exon 60 to 61 splicing. This is the first reported instance of a dystrophinopathy caused by an intronic SVA family retrotransposon insertion. The second carries a substitution at the final nucleotide of exon 45 (c.6614G>T) disrupting the splice donor site. RNA-seq analysis revealed the creation of a novel terminal exon incorporating a segment of intron 45 functioning as a pseudo-3'UTR region. Western blot demonstrated abundant expression of a C-terminal deleted 256 kDa dystrophin, which nonetheless localized to the sarcolemmal membrane on immunofluorescent analysis. Despite this localization but consistent with an absence of the dystroglycan-binding domain, he demonstrates a DMD phenotype. These examples expand our understanding of mutational mechanisms in dystrophinopathies and highlight the need for muscle RNA-seq to establish molecular diagnoses in selected cases. [ABSTRACT FROM AUTHOR]

Published
2024
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38. 435P Correction of a common Duchenne muscular dystrophy mutation by CRISPR/Cas9 gene editing using homology-independent targeted integration.

Author

Nicolau, S., Sarff, J., Vetter, T., Stephenson, A., and Flanigan, K.

Subjects
*DUCHENNE muscular dystrophy, *GENOME editing, *TIBIALIS anterior, *INTRAMUSCULAR injections, *CRISPRS
Abstract

Out-of-frame mutations in the DMD gene cause Duchenne muscular dystrophy. The most common of these is deletion of exon 45, accounting for 3-4% of patients. We designed a gene editing system based on CRISPR/Cas9 and homology-independent targeted integration (HITI) to correct this mutation by knock-in of exon 45. The system relies on delivery of the SaCas9 enzyme, guide RNA (gRNA), and exon 45 donor by a pair of AAV vectors. The gRNA targets a site in intron 44, as well as two flanking sites on the donor vector. The latter are engineered to drive integration of the donor into genomic DNA in the correct orientation. Through in vitro experiments and in vivo intramuscular injection, we optimized the choice of gRNA and the design of the donor vector, including the intronic sequences flanking exon 45 and the inclusion of multiple gRNA expression cassettes under the control of different promoters. The system was subsequently systemically delivered in a humanized mouse model of exon 45 deletion. Insertion of exon 45 was detected in the heart, diaphragm, and tibialis anterior at 1- and 4-weeks post-treatment, but the maximal insertion efficiency was low (0.15% in the heart at 4 weeks). As a result, there was no significant increase in dystrophin expression. Despite high Cas9 expression, the rate of indel formation at the target site was also low, suggesting a need for further gRNA optimization. Subsequent in vitro experiments identified a more active gRNA, as well as a gRNA scaffold that enhanced editing efficiency. With enhanced efficiency, a HITI-based system targeting intron 44 could be employed to correct other deletions starting with exon 45, which together account for 15% of all Duchenne muscular dystrophy patients. [ABSTRACT FROM AUTHOR]

Published
2024
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39. DMD - BIOMARKERS

Author

Vetter, T., primary, Bradley, A., additional, Frair, E., additional, Nicolau, S., additional, and Flanigan, K., additional

Published
2021
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40. DMD – CLINICAL CARE

Author

Nicolau, S., primary, Vetter, T., additional, Bradley, A., additional, Frair, E., additional, Weiss, R., additional, and Flanigan, K., additional

Published
2021
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42. A Rare Case of Extensive Spondylodiscitis

Author

Nicolau S, Grego M, Moniz M, and Jardim J

Subjects
Spondylodiscitis, medicine.medical_specialty, business.industry, Rare case, Medicine, General Medicine, business, medicine.disease, Dermatology
Abstract

A 71-year-old man with a history of diabetes mellitus was admitted to our hospital with a 2-week history of fever and low back pain. Physical examination showed fever (38.1°C), painful palpation of the lower lumbar vertebrae and right lower limb paresis. Blood examination revealed an increased white blood cell count (16700x109/L) and C- reactive protein (22,39 mg/dL). Magnetic resonance imaging showed extensive spondylodiscitis, with osteomyelitis of the L5, S1 and S2 vertebral bodies, discitis, large epidural empyema, paraspinal and epidural abscesses. Patient was submitted to surgical treatment and was started on empirical antimicrobial therapy. Blood and intraoperative cultures were negative. Brucellosis and tuberculosis testing was negative. A 10- week course of antimicrobial therapy was performed with progressive decline of acute-phase reactants, reduction in pain and improvement of the neurological deficit. At 1-year follow up with light residual lower back pain and no neurological deficit.

Published
2021

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