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2. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. C., Melo, A., Liska, U., Zifko, U., Budka, H., Drlicek, M., Grisold, W., Kaufmann, R., Kaiser, R., Czygan, M., Gomes, I., Jones, N., Cunha, S., EmbiruÇu, E. Katiane, Vieira, V., Araujo, I., Alexandra, M., Ferreira, A., Goes, J., Chemouilli, P., Israel-Biet, Masson, H., Lacroix, C., Gasnault, J., Hildebrandt-Müller, B., Oschmann, P., Krack, P., Willems, W. R., Dorndorf, W., Freitas, V., Bittencourt, A., Fernandes, D., Nascimento, M. H., Severo, M., Moraes, D., Muller, M., Hasert, K., Merkelbach, S., Schimrigk, K., van Oosten, B. W., Lai, M., Polman, C. H., Bertelsmann, F. W., Hodgkinson, S., Cabre, P. H., Volpe, L., Smadja, D., Vernant, J. P., Villaroya, H., Violleau, K., Younes-Chennoufi, A. Ben, Baumann, N., Villanueva-Hemandez, P., Ballabriga, J., Basart, E., Arbizu, T. X., Perez-Serra, J., Vinuels, F., Giron, J. M., Castilla, J. M., Redondo, L., Izquierdo, G., Lauer, K., Henneberg, A., Bittmann, N., Link, D., Wollinsky, K. H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. G., Luksch, R., Boiardi, A., Grzelec, H., Fryze, C., Nowacki, P., Zdziarska, B., Sanson, M., Merel, P., Richard, S., Rouleau, G., Thomas, G., Olsen, N. K., Pfeiffer, P., Egund, N., Bentzen, S. M., Johannesen, L., Mondrup, K., Rose, C., Zyluk, B., Wondrusch, E., Berger, O., Fast, N., Jellinger, K., Lindner, K., Urman, A., Thibault, J. L., Duyckaerts, Ch., Strik, H., Muller, B., Richter, E., Krauseneck, P., Steinbrecher, A., Schabet, M., Hess, C., Bamberg, M., Dichgans, J., Counsell, C. E., McLeod, M., Grant, R., Creel, G. B., Claus, D., Sieber, E., Engelhardt, A., Rechlin, T., Thierauf, P., Neubauer, U., Peresson, M., Di Giovacchino, G., Romani, G. L., Di Silverio, F., Danek, A., Kuffner, M., Hoermann, R., Schopohl, J., Laska, M., Heye, B., Zangaladze, A. T., Valls-SoIè, J., Cammarota, A., Alvarez, R., Tolosa, E., Hallett, M., Ulbricht, D., Ganslandt, O., Kober, H., Vieth, J., Grummich, P., Pongratz, H., Brigel, C., Fahlbusch, R., Serra, F. P., Palma, V., Nolfe, G., Buscaino, G. A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., Frontali, M., Salmon, E., Gregoire, Del Fiore, Comar, Franck, G., Scheltens, P. H., Siegfried, K., Dartigues, E., De Deyn, P., Horn, R., Nelson, I., Hanna, M. G., Morgan-Hughes, J. A., Collinge, J., Palmer, M. S., Campbell, T., Mahal, S., Sidle, K., Humphreys, C., Tavitian, B., Pappata, S., Jobert, A., Crouzel, A. M., DiGiamberardino, L., Steimetz, G., Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M. G., Di Piero, V., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G., Lenzi, G. L., Spiegel, R., Maguire, P., Schmid, W., Ott, A., Bots, M. L., Grobbe, D. E., Hofman, A., Howard, R. S., Russell, S., Losseff, N., Hirsch, N. P., Couderc, R., Bailleul, S., Nargeot, M. C., Touchon, J., Picot, M. C., Rizzo, M., Watson, G., McGehee, D., Dingus, T., Kappos, L., Radü, E. W., Haas, J., Hartard, C. H., Spuler, S., Yousry, T., Voltz, R., Scheller, A., Holler, E., Hohlfeld, R., Scolding, N. J., Sussman, J., Kolar, O. J., Farlow, M. R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. A., Burke, E. T., Staunton, H., Phillips, J., Rousseaux, M., Pena, J., Bertran, I., Santacruz, P., Lopez, R., Catafau, A., Lomena, F., Blesa, R., Rampello, L., Nicoletti, A., Cabaret, M., Lesoin, F., Steinling, M., Tournev, I., Maier-Hauff, K., Schroeder, M., Wolf, A., Cochin, J. P., Noel, I., Augustin, P., Auzou, P., Hannequin, D., Maria, V., Lopez-Bresnahan, Danielle, D. M., Antin-Ozerkis B. A., Bartels, E., Rodiek, S. O., Flugel, K. A., Campos, D. M., Salas-Puig, J., Del Rio, J. Sanhez, Vidal, J. A., Lahoz, C. H., Eraksoy, M., Barlas, O., Barlas, M., Bayindir, C., Ozcan, H., Birbamer, G., Gerstenbrand, F., Felber, S., Luz, G., Aichner, F., Seidel, G., Kaps, M., Hutzelmann, A., Gerriets, T., Kruggel, F., Martin, P. J., Gaunt, M. E., Abbot, R. J., Naylor, A. R., Meary, E., Dilouya, A., Meder, J. F., De Recondo, J., Lebtahi, R., Neff, K. W., Meairs, S., Viola, S., Matta, E., Aquilone, L., Rise, I. R., Authier, F. J., Kondo, H., Ghnassia, R. T., Degos, J. D., Gherardi, R. K., Bardoni A., Ciafaloni E., Comi G. P., Bresolin N., Robotti M., Moggio M., Rigoletto C., Roses A., Scarlato G., Castelli, E., Turconi, A., Bresolin, N., Perani, D., Felisari, G., Chariot, P., de Pinieux, G., Astier, A., Jacotot, B., Gherardi, R., Fischer-Gagnepain, V., Louboutin, J. P., Crespo, F., Florea-Strat, A., Fromont, G., Sabourin, J. -C., Gonano, E. -F., Moroni, I., Prelle, A., Iannaccone, S., Quattrini, A., deRino, F., Sessa, M., Golzi, V., Smirne, S., Nemni, R., Turpin, J. C., Lucotte, G., Jacobs, S. C. J. M., Willems, P. W. A., Bootsma, A. L., Lasa, A., Calaf, M., Baiget, M., Gallano, B., Fichter-Gagnepain, V., Mazzucchelli, F., D'Angelo, M. G., Velicogna, M., Bet, L., Comi, G. P., Bordoni, A., Gonano, E. F., Bazzi, P., Rapuzzi, S., Moggio, M., Fagiolari, G., Ciscato, P., Messina, A., Battistel, A., Ryniewicz, B., Sangla, I., Desnuelle, C., Paquis, V., Cozzone, P. J., Bendahan, D., Sturenburg, H. 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M., Pleiffer, G., Kunre, K., Dieterich, M., Brandt, Th., Guarino, M., Stracciari, A., Pazzaglia, P., D'Alessandro, R., Santilli, I., Donato, M., The European Velnacrine Study Group, The Dutch Guillain-Barré study group, The COP-1 Multicenter Clinical and Research Group Study, and European Study Group
- Published
- 1994
- Full Text
- View/download PDF
3. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations
- Author
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Lampis, R., Morelli, L., De Virgiliis, S., Congia, M., and Cucca, F.
- Published
- 2000
4. Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region
- Author
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CUCCA, F., ZHU, Z.-B., KHANNA, A., COSSU, F., CONGIA, M., BADIALI, M., LAMPIS, R., FRAU, F., DE VIRGILIIS, S., CAO, A., ARNONE, M., PIRAS, P., CAMPBELL, R. D., COOPER, M. D., VOLANAKIS, J. E., and POWIS, S. H.
- Published
- 1998
5. Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies (GAD65Ab), predict insulin-dependence in Latent Autoimmune Diabetes of Adults (LADA)
- Author
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Maioli, M., Pes, G. M., Delitala, G., Puddu, L., Falorni, Alberto, Tolu, F., Lampis, R., Orru, V., Secchi, G., Cicalò, A. M., Floris, R., Madau, G. F., Pilosu, R. M., Whalen, M., and Cucca, F.
- Published
- 2010
6. Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies, predict insulin dependence in latent autoimmune diabetes of adults
- Author
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Maioli, M, primary, Pes, G M, additional, Delitala, G, additional, Puddu, L, additional, Falorni, A, additional, Tolu, F, additional, Lampis, R, additional, Orrù, V, additional, Secchi, G, additional, Cicalò, A M, additional, Floris, R, additional, Madau, G F, additional, Pilosu, R M, additional, Whalen, M, additional, and Cucca, F, additional
- Published
- 2010
- Full Text
- View/download PDF
7. Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia
- Author
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Zoledziewska, M, primary, Costa, G, additional, Pitzalis, M, additional, Cocco, E, additional, Melis, C, additional, Moi, L, additional, Zavattari, P, additional, Murru, R, additional, Lampis, R, additional, Morelli, L, additional, Poddie, F, additional, Frongia, P, additional, Pusceddu, P, additional, Bajorek, M, additional, Marras, A, additional, Satta, A M, additional, Chessa, A, additional, Pugliatti, M, additional, Sotgiu, S, additional, Whalen, M B, additional, Rosati, G, additional, Cucca, F, additional, and Marrosu, M G, additional
- Published
- 2008
- Full Text
- View/download PDF
8. The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases
- Author
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Lampis, R., primary
- Published
- 2000
- Full Text
- View/download PDF
9. HLA class II genes in chronic hepatitis C virus-infection and associated immunological disorders
- Author
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Congia, M, primary, Clemente, M G, additional, Dessi, C, additional, Cucca, F, additional, Mazzoleni, A P, additional, Frau, F, additional, Lampis, R, additional, Cao, A, additional, Lai, M E, additional, and De Virgiliis, S, additional
- Published
- 1996
- Full Text
- View/download PDF
10. Effect of iron overload on the response to recombinant interferon-alfa treatment in transfusion-dependent patients with thalassemia major and chronic hepatitis C
- Author
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Clemente, M.G., primary, Congia, M., additional, Lai, M.E., additional, Lilliu, F., additional, Lampis, R., additional, Frau, F., additional, Frau, M.R., additional, Faa, G., additional, Diana, G., additional, Dessì, C., additional, Melis, A., additional, Mazzoleni, A.P., additional, Cornacchia, G., additional, Cao, A., additional, and De Virgiliis, S., additional
- Published
- 1994
- Full Text
- View/download PDF
11. A Pvull RFLP at D6S114E locus in the HLA region (RING4 locus)
- Author
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Muntoni, F., primary, Lampis, R., additional, Frau, F., additional, Argiolas, L., additional, Murru, M.R., additional, costa, G., additional, and Congia, M., additional
- Published
- 1991
- Full Text
- View/download PDF
12. The HLA-DPB1--associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1.
- Author
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Cucca, F, Dudbridge, F, Loddo, M, Mulargia, A P, Lampis, R, Angius, E, De Virgiliis, S, Koeleman, B P, Bain, S C, Barnett, A H, Gilchrist, F, Cordell, H, Welsh, K, and Todd, J A
- Abstract
The major histocompatibility complex (MHC) HLA region on chromosome 6p21 contains the major locus of type 1 diabetes (IDDM1). Common allelic variants at the class II HLA-DRB1, -DQA1, and -DQB1 loci account for the major part of IDDM1. Previous studies suggested that other MHC loci are likely to contribute to IDDM1, but determination of their relative contributions and identities is difficult because of strong linkage disequilibrium between MHC loci. One prime candidate is the polymorphic HLA-DPB1 locus, which (with the DPA1 locus) encodes the third class II antigen-presenting molecule. However, the results obtained in previous studies appear to be contradictory. Therefore, we have analyzed 408 white European families (200 from Sardinia and 208 from the U.K.) using a combination of association tests designed to directly compare the effect of DPB1 variation on the relative predisposition of DR-DQ haplotypes, taking into account linkage disequilibrium between DPB1 and the DRB1, DQA1, and DQB1 loci. In these populations, the overall contribution of DPB1 to IDDM1 is small. The main component of the DPB1 contribution to IDDM1 in these populations appears to be the protection associated with DPB1*0402 on DR4-negative haplotypes. We suggest that the HLA-DP molecule itself contributes to IDDM1. [ABSTRACT FROM AUTHOR]
- Published
- 2001
- Full Text
- View/download PDF
13. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
- Author
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Figus, A, Lampis, R, Devoto, M, Ristaldi, M S, Ideo, A, de Virgilis, S, Nurchi, A M, Corrias, A, Corda, R, and Lai, M E
- Abstract
Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs. [ABSTRACT FROM PUBLISHER]
- Published
- 1989
14. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis
- Author
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Figus, A., Lampis, R., MARCELLA DEVOTO, Ristaldi, M. S., Ideo, A., Virgilis, S., Nurchi, A. M., Corrias, A., Corda, R., Lai, M. E., Tocco, A., Deplano, A., Solinas, A., Zancan, L., Lee, W., Cao, A., Pirastu, M., and Balestrieri, A.
15. Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia
- Author
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Frongia Paola, Maioli Mario, Pacifico Adolfo, Pala Gavino, Nucaro Annalisa, Lampis Rosanna, Contu Daniela, Corongiu Daniela, Secci Maria, Rolesu Marcella, Cuccu Stefania, Tranquilli Stefania, Mancosu Cristina, Lai Marina, Melis Maria, Schirru Lucia, Fadda Elisabetta, Solla Elisabetta, Costa Gianna, Orrù Valeria, Motzo Costantino, Moi Loredana, Murru Daniela, Zoledziewska Magdalena, Deidda Elisabetta, Murru Raffaele, Zavattari Patrizia, Pitzalis Maristella, Chessa Margherita, Ricciardi Rossella, Lostia Stanislao, Marinaro Anna, Milia Anna, Landis Novella, Zedda Maria, Whalen Michael B, Santoni Federico, Marrosu Maria, Devoto Marcella, and Cucca Francesco
- Subjects
Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis. Methods To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic. Results In T1D, aside from the HLA locus, we found four regions showing a lod-score ≥1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score ≥1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5). Conclusion This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.
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- 2008
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16. The Distribution of DR4 Haplotypes in Sardinia Suggests a Primary Association of Type I Diabetes with DRB1 and DQB1 Loci
- Author
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Cucca, F., Lampis, R., Frau, F., and Macis, D.
- Published
- 1995
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17. HLA-DQB1^*0305 and -DQB1^*0304 Alleles Among Sardinians: Evolutionary and Practical Implications for Oligotyping
- Author
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Cucca, F., Frau, F., Lampis, R., and Floris, M.
- Published
- 1994
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18. A Gene Dosage Effect of the DQA1^*0501/DAB1^*0201 Allelic Combination Influences the Clinical Heterogeneity of Celiac Disease
- Author
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Congia, M., Cucca, F., Frau, F., and Lampis, R.
- Published
- 1994
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19. Combinations of Specific DRB1, DQA1, DQB1 Haplotypes Are Associated with Insulin-Dependent Diabetes Mellitus in Sardinia
- Author
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Cucca, F., Muntoni, F., Lampis, R., and Frau, F.
- Published
- 1993
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20. Zonulin upregulation is associated with increased gut permeability in subjects with type 1 diabetes and their relatives
- Author
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Deborah Kryszak, Rosanna Lampis, Romano Carratù, Debra Counts, Alessio Fasano, Amit Tripathi, Laura de Magistris, Francesca Laghi, Francesco Prisco, Francesco Cucca, Maria Cartenì, Gabriele Riegler, Maddalena Generoso, Dario Iafusco, Maria Grazia Clemente, Anna Sapone, Michelle Pietzak, Sapone, A., DE MAGISTRIS, Laura, Pietzak, M., Clemente, M., Tripathi, A., Cucca, F., Lampis, R., Kryszak, D., Cartenì, M., Generoso, M., Iafusco, Dario, Prisco, F., Laghi, F., Riegler, Gabriele, Carratu, R., Counts, D., and Fasano, A.
- Subjects
medicine.medical_specialty ,Cholera Toxin ,Endocrinology, Diabetes and Metabolism ,Biology ,Diabete ,medicine.disease_cause ,Permeability ,Autoimmunity ,Autoimmune Diseases ,Downregulation and upregulation ,zonulin ,Internal medicine ,Diabetes mellitus ,Occludin ,Claudin-1 ,Internal Medicine ,medicine ,Humans ,Family ,Genetic Predisposition to Disease ,Protein Precursors ,Autoimmune disease ,Type 1 diabetes ,Intestinal permeability ,Haptoglobins ,intestinal permeability ,Zonulin ,Membrane Proteins ,Environmental exposure ,medicine.disease ,Intestines ,Endocrinology ,Diabetes Mellitus, Type 1 ,Immunology ,Claudins - Abstract
Zonulin, a protein that modulates intestinal permeability, is upregulated in several autoimmune diseases and is involved in the pathogenesis of autoimmune diabetes in the BB/Wor animal model of the disease. To verify the association between serum zonulin levels and in vivo intestinal permeability in patients with type 1 diabetes, both parameters were investigated in different stages of the autoimmune process. Forty-two percent (141 of 339) of the patients had abnormal serum zonulin levels, as compared with age-matched control subjects. The increased zonulin levels correlated with increased intestinal permeability in vivo and changes in claudin-1, claudin-2, and myosin IXB genes expression, while no changes were detected in ZO1 and occludin genes expression. When tested in serum samples collected during the pre‐type 1 diabetes phase, elevated serum zonulin was detected in 70% of subjects and preceded by 3.5 0.9 years the onset of the disease in those patients who went on to develop type 1 diabetes. Combined, these results suggest that zonulin upregulation is associated with increased intestinal permeability in a subgroup of type 1 diabetic patients. Zonulin upregulation seems to precede the onset of the disease, providing a possible link between increased intestinal permeability, environmental exposure to non‐self antigens, and the development of autoimmunity in genetically susceptible individuals. Diabetes 55:1443‐1449, 2006
- Published
- 2006
21. Poor vaccine-related immunity against HBV in children with autoimmune diseases: Early or late sign of immunological disorder?
- Author
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Antonucci R, Frassetto R, Vacca N, Mura D, Lampis R, Castiglia P, Sotgiu G, Piana A, and Clemente MG
- Subjects
- Autoimmune Diseases diagnosis, Child, Child, Preschool, Female, Hepatitis B diagnosis, Hepatitis B prevention & control, Hepatitis B Antibodies immunology, Humans, Male, Autoimmune Diseases complications, Hepatitis B complications, Hepatitis B immunology, Hepatitis B Vaccines immunology, Hepatitis B virus immunology, Immunity
- Published
- 2019
- Full Text
- View/download PDF
22. Anti-actin IgA antibodies identify celiac disease patients with a Marsh 3 intestinal damage among subjects with moderate anti-TG2 levels.
- Author
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Schirru E, Danjou F, Cicotto L, Rossino R, Macis MD, Lampis R, Jores RD, and Congia M
- Subjects
- Case-Control Studies, Child, Female, Humans, Male, Protein Glutamine gamma Glutamyltransferase 2, Reference Values, Actins immunology, Celiac Disease diagnosis, Celiac Disease immunology, GTP-Binding Proteins immunology, Immunoglobulin A immunology, Intestines immunology, Intestines pathology, Transglutaminases immunology
- Abstract
A new diagnostic tool (algorithm-1) for coeliac disease (CD) permitting the diagnosis without performing the duodenal biopsy has been recently proposed by the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN). It combines symptoms associated with CD, high anti-transglutaminase type 2 antibody (anti-TG2) levels, anti-endomysium-IgA antibodies (EMA), and at-risk HLA. Our aims were (i) to evaluate retrospectively in 227 individuals (149 CD patients and 78 controls) the algorithm-1, (ii) to reduce the number of duodenal biopsies among CD patients for whom algorithm-1 is not applicable through the addition of antiactin IgA antibodies (AAA-IgA), and (iii) to evaluate prospectively algorithm-1 and AAA-IgA in 50 patients with suspected CD. Algorithm-1 identified 70 out of 149 CD patients with Marsh 3 lesions. Adding AAA-IgA to the remaining patients with anti-TG2 levels comprised between 4 and 10 times upper limit of normal (ULN) allowed the detection of further 20 patients with a Marsh 3 damage. In our prospective study, algorithm-1 identified 23 out of 50 patients, whilst further 7 were recognized adding AAA-IgA. We confirm that algorithm-1 may avoid the duodenal biopsy in many CD patients and underscores the usefulness of AAA-IgA in reducing the number of duodenal biopsies in patients with moderate anti-TG2 levels.
- Published
- 2013
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23. High frequency of low-risk human leukocyte antigen class II genotypes in latent celiac disease.
- Author
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Schirru E, Jores RD, Cicotto L, Frau F, De Virgiliis S, Rossino R, Macis MD, Lampis R, and Congia M
- Subjects
- Alleles, Celiac Disease genetics, Child, Female, Genetic Association Studies statistics & numerical data, Genetic Predisposition to Disease epidemiology, Genotype, HLA-DQ Antigens genetics, Humans, Male, Odds Ratio, Prevalence, Risk, Severity of Illness Index, Celiac Disease immunology, Gene Frequency, HLA-DQ Antigens immunology, Haplotypes immunology
- Abstract
Human leukocyte antigen (HLA) class II genotypes in latent celiac disease, a clinical variant of celiac disease (CD) have been scarcely studied. The aim of this work was to investigate whether latent CD and CD share similar frequencies of HLA class II genotypes. HLA class II genotypes of CD patients compared with controls were subdivided in the following at-risk groups: DQB1*02/DQB1*02 (43.0%, odds ratio [OR] 8.02, p < 0.0001), DQB1*0302/DQB1*02 (12.2%, OR 2.77, p = 0.0002), DQB1*02/DQB1*X (39.2%, OR 1.23, p = 0.1903), DQB1*0302/DQB1*X (3.4%, OR 0.35, p = 0.0064) and DQB1*X/DQB1*X (0.8%, OR 0.01, p = 0.0001) where X is neither DQB1*0302 nor DQB1*02. Next, HLA class II genotypes of 21 latent CD patients were compared with the above at-risk groups. Only one latent CD patient (4.8%) was found in the high risk DQB1*02/DQB1*02 group, three (14.3%) were DQB1*0302/DQB1*02, one (4.8%) was DQB1*0302/DQB1*X and the remaining 16 (76.2%) showed the DQB1*02/DQB1*X genotype. Noteworthy, the only 1 patient with the DQB1*02/DQB1*02 high risk genotype did not carry the DR3-DQB1*02/DR3-DQB1*02 or the DR3-DQB1*02/DR7-DQB1*02 but the uncommon DR3-DQB1*02/DR4-DQB1*02 genotype. These data suggest that latent CD is prevalently associated with low-risk HLA class II genotypes., (Copyright © 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2011
- Full Text
- View/download PDF
24. Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.
- Author
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Pitzalis M, Zavattari P, Murru R, Deidda E, Zoledziewska M, Murru D, Moi L, Motzo C, Orrù V, Costa G, Solla E, Fadda E, Schirru L, Melis MC, Lai M, Mancosu C, Tranquilli S, Cuccu S, Rolesu M, Secci MA, Corongiu D, Contu D, Lampis R, Nucaro A, Pala G, Pacifico A, Maioli M, Frongia P, Chessa M, Ricciardi R, Lostia S, Marinaro AM, Milia AF, Landis N, Zedda MA, Whalen MB, Santoni F, Marrosu MG, Devoto M, and Cucca F
- Subjects
- Adolescent, Adult, Child, Chromosome Mapping, Diabetes Mellitus, Type 1 complications, Female, Genetic Markers genetics, Haplotypes, Humans, Male, Mediterranean Islands, Middle Aged, Multiple Sclerosis complications, Quantitative Trait Loci, Statistics, Nonparametric, Diabetes Mellitus, Type 1 genetics, Genetic Linkage, Genetic Predisposition to Disease, Microsatellite Repeats genetics, Multiple Sclerosis genetics
- Abstract
Background: The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis., Methods: To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic., Results: In T1D, aside from the HLA locus, we found four regions showing a lod-score > or =1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score > or =1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5)., Conclusion: This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.
- Published
- 2008
- Full Text
- View/download PDF
25. Zonulin upregulation is associated with increased gut permeability in subjects with type 1 diabetes and their relatives.
- Author
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Sapone A, de Magistris L, Pietzak M, Clemente MG, Tripathi A, Cucca F, Lampis R, Kryszak D, Cartenì M, Generoso M, Iafusco D, Prisco F, Laghi F, Riegler G, Carratu R, Counts D, and Fasano A
- Subjects
- Autoimmune Diseases genetics, Autoimmune Diseases physiopathology, Cholera Toxin genetics, Claudin-1, Claudins, Diabetes Mellitus, Type 1 genetics, Family, Genetic Predisposition to Disease, Haptoglobins, Humans, Intestines drug effects, Membrane Proteins genetics, Occludin, Protein Precursors, Cholera Toxin pharmacokinetics, Diabetes Mellitus, Type 1 physiopathology, Intestines physiopathology, Permeability drug effects
- Abstract
Zonulin, a protein that modulates intestinal permeability, is upregulated in several autoimmune diseases and is involved in the pathogenesis of autoimmune diabetes in the BB/Wor animal model of the disease. To verify the association between serum zonulin levels and in vivo intestinal permeability in patients with type 1 diabetes, both parameters were investigated in different stages of the autoimmune process. Forty-two percent (141 of 339) of the patients had abnormal serum zonulin levels, as compared with age-matched control subjects. The increased zonulin levels correlated with increased intestinal permeability in vivo and changes in claudin-1, claudin-2, and myosin IXB genes expression, while no changes were detected in ZO1 and occludin genes expression. When tested in serum samples collected during the pre-type 1 diabetes phase, elevated serum zonulin was detected in 70% of subjects and preceded by 3.5 +/- 0.9 years the onset of the disease in those patients who went on to develop type 1 diabetes. Combined, these results suggest that zonulin upregulation is associated with increased intestinal permeability in a subgroup of type 1 diabetic patients. Zonulin upregulation seems to precede the onset of the disease, providing a possible link between increased intestinal permeability, environmental exposure to non-self antigens, and the development of autoimmunity in genetically susceptible individuals.
- Published
- 2006
- Full Text
- View/download PDF
26. The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.
- Author
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Marrosu MG, Motzo C, Murru R, Lampis R, Costa G, Zavattari P, Contu D, Fadda E, Cocco E, and Cucca F
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Diabetes Mellitus, Type 1 complications, HLA-DQ beta-Chains, HLA-DRB1 Chains, Humans, Italy, Multiple Sclerosis complications, Diabetes Mellitus, Type 1 genetics, Genetic Variation, Genotype, HLA-DQ Antigens genetics, HLA-DR Antigens genetics, Multiple Sclerosis genetics
- Abstract
Type 1 diabetes (T1D) and multiple sclerosis (MS) are two autoimmune diseases which exhibit a considerably higher incidence in Sardinia compared with the surrounding southern European populations. Surprisingly, a 5-fold increased prevalence of T1D has also been observed in Sardinian MS patients. Susceptibility to both disorders is associated with common variants of the HLA-DRB1 and -DQB1 loci. In this study, we determined the relative contribution of genotype variation of these loci to the co-occurrence of the two disorders in Sardinia. We genotyped 1052 T1D patients and 1049 MS patients (31 of whom also had T1D) together with 1917 ethnically matched controls. On the basis of the absolute risks for T1D of the HLA-DRB1-DQB1 genotypes, we established that these loci would only contribute to a 2-fold increase in T1D prevalence in MS patients. From this evidence, we conclude that shared disease associations due to the HLA-DRB1-DQB1 loci provide only a partial explanation for the observed increased prevalence of T1D in Sardinian MS patients. The data suggest that variation at other non-HLA class II loci, and/or unknown environmental factors contribute significantly to the co-occurrence of these two traits.
- Published
- 2004
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27. Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.
- Author
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Motzo C, Contu D, Cordell HJ, Lampis R, Congia M, Marrosu MG, Todd JA, Devoto M, and Cucca F
- Subjects
- Diabetes Mellitus, Type 1 genetics, Diabetes Mellitus, Type 1 immunology, Family, Female, HLA-DQ Antigens genetics, HLA-DQ beta-Chains, HLA-DR Antigens genetics, HLA-DRB1 Chains, Histocompatibility Testing, Humans, Male, Reference Values, Risk Assessment, Risk Factors, Diabetes Mellitus, Type 1 epidemiology, HLA Antigens immunology
- Abstract
There is still uncertainty concerning the joint action of the two established type 1 diabetes susceptibility loci, the HLA class II DQB1 and DRB1 genes (IDDM1) and the insulin gene (INS) promoter (IDDM2). Some previous studies reported independence, whereas others suggested heterogeneity in the relative effects of the genotypes at these disease loci. In this study, we have assessed the combined effects of the HLA-DQB1/DRB1 and INS genotypes in 944 type 1 diabetic patients and 1,023 control subjects, all from Sardinia. Genotype variation at INS significantly influenced disease susceptibility in all HLA genotype risk categories. However, there was a significant heterogeneity (P = 2.4 x 10(-4)) in the distribution of the INS genotypes in patients with different HLA genotypes. The INS predisposing genotype was less frequent (74.9%) in high-risk HLA genotype-positive patients than in those with HLA intermediate-risk (86.1%) and low-risk (84.8%) categories. Gene-gene interaction modeling led to rejection of the additive model, whereas a multiplicative model showed a better, albeit still partial, fit to the observed data. These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity.
- Published
- 2004
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28. No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population.
- Author
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Zavattari P, Deidda E, Pitzalis M, Zoa B, Moi L, Lampis R, Contu D, Motzo C, Frongia P, Angius E, Maioli M, Todd JA, and Cucca F
- Subjects
- Adolescent, Adult, Alleles, Case-Control Studies, Child, Child, Preschool, Chromosomes, Human, X, Forkhead Transcription Factors, Genetic Linkage, Genetic Predisposition to Disease genetics, Genotype, Humans, Italy, Male, Polymorphism, Genetic, DNA-Binding Proteins genetics, Diabetes Mellitus, Type 1 genetics, Genetic Variation
- Abstract
Mutations of the forkhead/winged helix transcription factor FOXP3 gene on chromosome Xp11.23 cause a rare recessive monogenic disorder called IPEX (immune dysregulation, polyendocrinopathy, including type 1 diabetes, enteropathy, and X-linked syndrome). FOXP3 is necessary for the differentiation of a key immune suppressive subset of T-cells, the CD4+CD25+ regulatory T-cells. Previously, we reported a significant male-female bias in the common, multifactorial form of type 1 diabetes in Sardinia and evidence of linkage of chromosome Xp11 to the disease. These findings indicate that FOXP3 is a prime functional and positional candidate locus for the common form of type 1 diabetes. In the present study, we initially scanned 82 kb of the FOXP3 region for common polymorphisms, including sequencing all of the coding and functionally relevant portions of the gene in 64 Sardinian individuals. Then the most informative polymorphisms in 418 type 1 diabetic families and in 268 male case and 326 male control subjects were sequentially genotyped and tested for disease association. There is no evidence that variants in the FOXP3 regions analyzed are associated with type 1 diabetes and account for the male-female bias observed in Sardinia. Our data indicate that allelic variation in or near the coding regions of the FOXP3 gene does not have a major role in the inherited susceptibility to the common form of type 1 diabetes.
- Published
- 2004
- Full Text
- View/download PDF
29. Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia.
- Author
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Contu D, Morelli L, Zavattari P, Lampis R, Angius E, Frongia P, Murru D, Maioli M, Francalacci P, Todd JA, and Cucca F
- Subjects
- Child, Child, Preschool, Control Groups, Female, Gene Frequency, Genotype, HLA-DR3 Antigen genetics, HLA-DR4 Antigen genetics, Haplotypes, Humans, Incidence, Italy, Male, Sex Distribution, Chromosome Mapping, Diabetes Mellitus, Type 1 epidemiology, Diabetes Mellitus, Type 1 genetics, Founder Effect, Y Chromosome genetics
- Abstract
A male excess in Sardinian type 1 diabetic cases has previously been reported and was largely restricted to those patients carrying the HLA-DR3/nonDR4 genotype. In the present study, we have measured the male- to-female (M:F) ratio in a sample set of 542 newly collected, early-onset type 1 diabetic Sardinian patients. This data not only confirm the excess of male type 1 diabetic patients overall (M:F ratio = 1.3, P = 3.9 x 10(-3)) but also that the bias in male incidence is largely confined to patients with the DR3/nonDR4 genotype (M:F ratio = 1.6, P = 2.0 x 10(-4)). These sex effects could be due to a role for allelic variation of the Y chromosome in the susceptibility to type 1 diabetes, but to date this chromosome has not been evaluated in type 1 diabetes. We, therefore, established the frequencies of the various chromosome Y lineages and haplotypes in 325 Sardinian male patients, which included 180 cases with the DR3/nonDR4 genotype, and 366 Sardinian male control subjects. Our results do not support a significant involvement of the Y chromosome in DR3/nonDR4 type 1 diabetic cases nor in early-onset type 1 diabetes as a whole. Other explanations, such as X chromosome-linked inheritance, are thus required for the male bias in incidence in type 1 diabetes in Sardinia.
- Published
- 2002
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30. A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.
- Author
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Cucca F, Lampis R, Congia M, Angius E, Nutland S, Bain SC, Barnett AH, and Todd JA
- Subjects
- Adolescent, Adult, Alleles, Amino Acid Sequence, Animals, Child, Child, Preschool, Genetic Predisposition to Disease, Humans, Infant, Mice, Molecular Sequence Data, Polymorphism, Genetic, Transfection, Diabetes Mellitus, Type 1 genetics, Genes, MHC Class II genetics, HLA-DQ Antigens chemistry, HLA-DR Antigens chemistry
- Abstract
In human type 1 diabetes (T1D) and in its murine model, the major histocompatibility complex (MHC) class II molecules, human leukocyte antigens (HLA)-DQ and -DR and their murine orthologues, IA and IE, are the major genetic determinants. In this report, we have ranked HLA class II molecule-associated T1D risk in a two-sided gradient from very high to very low. Very low risk corresponded to dominant protection from T1D. We predicted the protein structure of DQ by using the published crystal structures of different allotypes of the murine orthologue of DQ, IA. We discovered marked similarities both within, and cross species between T1D protective class II molecules. Likewise, the T1D predisposing molecules showed conserved similarities that contrasted with the shared patterns observed between the protective molecules. We also found striking inter-isotypic conservation between protective DQ, IA allotypes and protective DR4 subtypes. The data provide evidence for a joint action of the class II peptide-binding pockets P1, P4 and P9 in disease susceptibility and resistance with a main role for P9 in DQ/IA and for P1 and P4 in DR/IE. Overall, these results suggest shared epitope(s) in the target autoantigen(s), and common pathways in human and murine T1D.
- Published
- 2001
- Full Text
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31. Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci.
- Author
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Zavattari P, Lampis R, Motzo C, Loddo M, Mulargia A, Whalen M, Maioli M, Angius E, Todd JA, and Cucca F
- Subjects
- Chromosome Mapping, HLA-DQ beta-Chains, HLA-DRB1 Chains, Humans, Risk Factors, Diabetes Mellitus, Type 1 genetics, HLA-DQ Antigens genetics, HLA-DR Antigens genetics, Linkage Disequilibrium
- Abstract
Type 1 diabetes mellitus is a common disease with a complex mode of inheritance. Its aetiology is underpinned by a major locus, insulin-dependent diabetes mellitus 1 (IDDM1) in the human leukocyte antigen (HLA) region of chromosome 6p21, and an unknown number of loci of lesser individual effect. In linkage analyses IDDM1 is a single peak, but it is evident that the linkage is caused by allelic variation of three adjacent genes in a 75 kb region, namely the class II genes, HLA-DRB1, -DQA1 and -DQB1. However, even these three genes may not explain all of the HLA association. We investigated, in the founder population of Sardinia, whether non-DQ/DR polymorphic markers within a 9.452 Mb region encompassing the whole HLA complex further influence the disease risk, after taking into account linkage disequilibrium with the disease loci HLA-DQB1, -DQA1 and -DRB1. We generalized the conditional association test, the haplotype method, to detect marker associations that are independent of the main DR/DQ disease associations. Three regions were identified as risk modifiers. These associations were not only independent of the polymorphic exon 2 sequences of HLA-DQB1, -DQA1 and -DRB1, but also independent of each other. The individual contributions of these risk modifiers were relatively modest but their combined impact was highly significant. Together, alleles of single nucleotide polymorphisms at the DMB and DOB genes, and the microsatellite locus TNFc, identified approximately 40% of Sardinian DR3 haplotypes as non-predisposing. This conditional analysis approach can be applied to any chromosome region involved in the predisposition to complex traits.
- Published
- 2001
- Full Text
- View/download PDF
32. Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia.
- Author
-
Zavattari P, Lampis R, Mulargia A, Loddo M, Angius E, Todd JA, and Cucca F
- Subjects
- Female, Genetic Predisposition to Disease, HLA-DQ beta-Chains, HLA-DRB1 Chains, Humans, Italy, Male, Diabetes Mellitus, Type 1 genetics, HLA-DQ Antigens genetics, HLA-DR Antigens genetics, Linkage Disequilibrium genetics
- Abstract
There is considerable uncertainty and debate concerning the application of linkage disequilibrium (LD) mapping in common multifactorial diseases, including the choice of population and the density of the marker map. Previously, it has been shown that, in the large cosmopolitan population of the UK, the established type 1 diabetes IDDM1 locus in the HLA region could be mapped with high resolution by LD. The LD curve peaked at marker D6S2444, 85 kb from the HLA class II gene DQB1, which is known to be a major determinant of IDDM1. However, given the many unknown parameters underlying LD, a validation of the approach in a genetically distinct population is necessary. In the present report we have achieved this by the LD mapping of IDDM1 in the isolated founder population of Sardinia. Using a dense map of microsatellite markers, we determined the peak of LD to be located at marker D6S2447, which is only 6.5 kb from DQB1. Next, we typed a large number of SNPs defining allelic variation at functional candidate genes within the critical region. The association curve, with both classes of marker, peaked at the loci DRB1-DQB1. These results, while representing conclusive evidence that the class II loci DRB1-DQB1 dominate the association of the HLA region to type 1 diabetes, provide empirical support for LD mapping.
- Published
- 2000
- Full Text
- View/download PDF
33. Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection.
- Author
-
Zavattari P, Deidda E, Whalen M, Lampis R, Mulargia A, Loddo M, Eaves I, Mastio G, Todd JA, and Cucca F
- Subjects
- Demography, HLA Antigens genetics, Humans, Male, Microsatellite Repeats genetics, Recombination, Genetic, Selection, Genetic, Chromosomes, Human, Pair 6, Linkage Disequilibrium genetics, X Chromosome
- Abstract
Linkage disequilibrium (LD) mapping of disease genes is complicated by population- and chromosome-region-specific factors. We have analysed demographic factors by contrasting intermarker LD results obtained in a large cosmopolitan population (UK), a large genetic isolate (Sardinia) and a subisolate (village of Gavoi) for two regions of the X chromosome. A dramatic increase of LD was found in the subisolate. Demographic history of populations therefore influences LD. Chromosome-region-specific effects, namely the pattern and frequency of homologous recombination, were next delineated by the analysis of chromosome 6p21, including the HLA region. Patterns of global LD in this region were very similar in the UK and Sardinian populations despite their entirely distinct demographies, and correlate well with the pattern of recombinations. Nevertheless, haplotypes extend across recombination hot spots indicative of selection of certain haplotypes. Subisolate aside, chromosome-region-specific differences in LD patterns appear to be more important than the differences in intermarker LD between distinct populations.
- Published
- 2000
- Full Text
- View/download PDF
34. A novel HLA-DQB1 allele: evidence for gene conversion event promoted by chi-like sequence at DQB1 locus.
- Author
-
Cucca F, Muntoni F, Lampis R, Frau F, Cao A, De Virgiliis S, and Congia M
- Subjects
- Base Sequence, HLA-DQ beta-Chains, Haplotypes genetics, Humans, Italy, Molecular Sequence Data, Sequence Alignment, Sequence Homology, Nucleic Acid, Alleles, Gene Conversion, Genes, MHC Class II, HLA-DQ Antigens genetics, Polymorphism, Genetic
- Published
- 1993
- Full Text
- View/download PDF
35. A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that disease susceptibility is conferred by DQ A1*0501, B1*0201.
- Author
-
Congia M, Frau F, Lampis R, Frau R, Mele R, Cucca F, Muntoni F, Porcu S, Boi F, and Contu L
- Subjects
- Adult, Celiac Disease epidemiology, Celiac Disease immunology, Child, Disease Susceptibility, Gene Amplification genetics, Gene Frequency immunology, HLA-A Antigens immunology, HLA-B Antigens immunology, HLA-B18 Antigen, HLA-DQ Antigens immunology, HLA-DQ alpha-Chains, HLA-DR Antigens immunology, HLA-DR Serological Subtypes, HLA-DR3 Antigen immunology, Haplotypes immunology, Humans, Italy epidemiology, Linkage Disequilibrium, Middle Aged, Polymorphism, Restriction Fragment Length, Celiac Disease genetics, Gene Frequency genetics, HLA-A Antigens genetics, HLA-B Antigens genetics, HLA-DQ Antigens genetics, HLA-DR Antigens genetics, HLA-DR3 Antigen genetics, Haplotypes genetics
- Abstract
This study characterizes by serological and molecular methods the HLA class I and class II alleles in a group of celiac disease children, their parents and a control group of Sardinian descent. We found the DR3-DQw2 haplotype in all patients which was, in almost all cases (84%), associated with the HLA-A30, B18, DR3, DRw52, DQw2 extended haplotype named "Sardinian haplotype" because of its frequency (12-15%) in this Caucasian population. This is the first time that this DQw2-linked haplotype has been reported with such a high frequency in CD. However, no different distribution of "Sardinian haplotype" was found comparing CD patients with 91 haplotyped DQw2-positive controls. This finding indicates that the DQw2 antigen in Sardinians is almost always associated with the A30, B18, DR3, DRw52, DQw2 extended haplotype. The DQA1 and DQB1 second exon sequence analysis of the B18,DR3 and B8,DR3 haplotypes showed the DQA1*0501 and DQB1*0201 alleles which shared the already published sequences. DPB1 subtyping showed the DPB1*0301 allele more frequently (p less than 0.005) in CD patients but this difference was no longer significant when patients and controls, both heterozygous for the DR3-DQw2 haplotype, were compared. We suggest that the divergent HLA extended haplotypes and DP allele associated with CD, described in different Caucasian populations, can be explained by the particular DQw2 linkage disequilibrium in each population.
- Published
- 1992
- Full Text
- View/download PDF
36. [A rare case of histio-monocytic reticulosis of ocular localization].
- Author
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LAMPIS R and CAPACCINI A
- Subjects
- Humans, Eye, Eye Neoplasms, Genetic Diseases, X-Linked, Leukemia, Hairy Cell, Lymphatic Diseases, Severe Combined Immunodeficiency
- Published
- 1962
37. [Peripapillary retinal pigmentation as an early sign of lead poisoning. Control findings in 53 subjects with chronic occupational lead poisoning or exposed to lead].
- Author
-
Giuliano G, Marras O, Focardi L, and Lampis R
- Subjects
- Adolescent, Adult, Aged, Environmental Exposure, Humans, Male, Middle Aged, Eye Manifestations, Fundus Oculi, Lead Poisoning diagnosis, Pigmentation Disorders chemically induced
- Published
- 1969
38. [RETINAL VASCULAR ANOMALY. (CLINICAL CONSIDERATIONS)].
- Author
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BROGI M and LAMPIS R
- Subjects
- Humans, Congenital Abnormalities, Ophthalmology, Optic Atrophy, Papilledema, Retinal Vessels, Vascular Diseases
- Published
- 1963
39. [The effect of antiherpes vaccination in relation to corneal manifestations of herpes simplex].
- Author
-
Lampis R, Zuccarini A, and Schiaroli G
- Subjects
- Adolescent, Adult, Humans
- Published
- 1969
40. [CENTRAL CHORIORETINITIS AND RETINAL PERIPHLEBITIS FOLLOWING POLYVALENT VACCINATION].
- Author
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SCIALDONE D and LAMPIS R
- Subjects
- Humans, Chorioretinitis, Phlebitis, Retinal Vessels, Smallpox Vaccine, Tetanus Toxoid, Toxicology, Typhoid-Paratyphoid Vaccines, Vaccination
- Published
- 1963
41. [MYCOSIS FUNGOIDES WITH PRIMARY ORBITAL LOCALIZATION].
- Author
-
GIANNOTTI B, LAMPIS R, and SCIALDONE D
- Subjects
- Humans, Mycosis Fungoides, Orbit
- Published
- 1963
42. [RESULTS OF BLOODLESS TREATMENT OF SOME DISEASES OF THE LACRIMAL DUCTS].
- Author
-
BROGI M and LAMPIS R
- Subjects
- Humans, Adrenal Cortex Hormones, Anti-Bacterial Agents, Antibiotics, Antitubercular, Dacryocystitis, Dermatologic Agents, Geriatrics, Lacrimal Apparatus, Lacrimal Duct Obstruction
- Published
- 1963
43. [INCIDENCE OF MESENCHYMOSIC MANIFESTATIONS IN KERATOCONUS].
- Author
-
CAPACCINI A, LAMPIS R, and BROGI M
- Subjects
- Humans, Incidence, Connective Tissue, Disease, Ecchymosis, Epistaxis, Estrogens, Hernia, Joint Diseases, Keratoconus, Metabolism, Varicose Veins, Vascular Diseases
- Published
- 1963
44. [COMPARISON BETWEEN THE THERAPEUTIC ACTION OF ANTICOAGULANTS AND OTHER DRUGS IN OCCLUSION OF THE CENTRAL RETINAL VEIN].
- Author
-
PANDOLFI M, BROGI M, and LAMPIS R
- Subjects
- Humans, Adrenal Cortex Hormones, Anticoagulants, Cardiovascular Agents, Ethyl Biscoumacetate, Heparin, Heparinoids, Muscle Relaxants, Central, Retinal Vein, Retinal Vessels, Thrombosis, Trypsin, Vasodilator Agents
- Published
- 1963
45. [PARATHYROPRIVAL CATARACT. (PATHOGENETIC CONSIDERATIONS)].
- Author
-
LAMPIS R and SCIALDONE D
- Subjects
- Humans, Cataract, Hypoparathyroidism, Postoperative Complications, Thyroidectomy
- Published
- 1963
46. [INFLUENCE OF A SYNTHETIC HEPARINOID (SP-54) ON THE TIME OF REABSORPTION OF EXPERIMENTAL HYPHEMIA IN RABBITS].
- Author
-
BROGI M, LAMPIS R, and PANDOLFI M
- Subjects
- Animals, Rabbits, Hemorrhage, Heparinoids, Hyphema, Lagomorpha, Leadership, Pentosan Sulfuric Polyester, Pharmacology, Research, Vitreous Body
- Published
- 1963
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