262 results on '"Tazir M"'
Search Results
2. Classifications of neurogenetic diseases: An increasingly complex problem
- Author
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Vallat, J.-M., Goizet, C., Tazir, M., Couratier, P., Magy, L., and Mathis, S.
- Published
- 2016
- Full Text
- View/download PDF
3. High prevalence of methicillin-resistant Staphylococcus aureus clone ST80-IV in hospital and community settings in Algiers
- Author
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Antri, K., Rouzic, N., Dauwalder, O., Boubekri, I., Bes, M., Lina, G., Vandenesch, F., Tazir, M., Ramdani-Bouguessa, N., and Etienne, J.
- Published
- 2011
- Full Text
- View/download PDF
4. Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
- Author
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Tazir, M., Ali-Pacha, L., M'Zahem, A., Delaunoy, J.P., Fritsch, M., Nouioua, S., Benhassine, T., Assami, S., Grid, D., Vallat, J.M., Hamri, A., and Koenig, M.
- Published
- 2009
- Full Text
- View/download PDF
5. Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
- Author
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H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., and Koenig, M.
- Published
- 2011
- Full Text
- View/download PDF
6. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
- Author
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Dubourg, O., Azzedine, H., Verny, C., Durosier, G., Birouk, N., Gouider, R., Salih, M., Bouhouche, A., Thiam, A., Grid, D., Mayer, M., Ruberg, M., Tazir, M., Brice, A., and LeGuern, E.
- Published
- 2006
- Full Text
- View/download PDF
7. Extra-pulmonary tuberculosis at Mustapha Hospital-University, Algiers, Algeria
- Author
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Ziane, H, additional, Seladji, S, additional, Zordani, F, additional, Hamlat, A, additional, Tazir, M, additional, and Amhis, W, additional
- Published
- 2021
- Full Text
- View/download PDF
8. Autosomal recessive forms of Charcot-Marie-Tooth disease
- Author
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Vallat, J. M., Grid, D., Magdelaine, C., Sturtz, F., and Tazir, M.
- Published
- 2004
- Full Text
- View/download PDF
9. IL-17 and nitric oxide pathways are involved in inflammatory response during Alzheimer’s disease: A study in Algerian patients: P070
- Author
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Belkhelfa, M., Rafa, H., Medjeber, O., Behairi, N., Abada-Bendib, M., Makrelouf, M., Belarbi, S., Masmoudi, A. N., Tazir, M., and Touil-Boukoffa, C.
- Published
- 2012
- Full Text
- View/download PDF
10. COMPARISON OF UAV LIDAR ODOMETRY OF ROTATING AND FIXED VELODYNE PLATFORMS
- Author
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Tazir, M. L., primary and Seube, N., additional
- Published
- 2020
- Full Text
- View/download PDF
11. Occurrence of PMQR determinants and ESBL in clinical Enterobacteriaceae isolates from an Algerian hospital: O558
- Author
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Ramdani-Bouguessa, N., Manageiro, V., Ferreira, E., Louro, D., Tazir, M., and Caniça, M.
- Published
- 2010
12. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
- Author
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Anheim, M, Monga, B, Fleury, M, Charles, P, Barbot, C, Salih, M, Delaunoy, J P, Fritsch, M, Arning, L, Synofzik, M, Schöls, L, Sequeiros, J, Goizet, C, Marelli, C, Le Ber, I, Koht, J, Gazulla, J, De Bleecker, J, Mukhtar, M, Drouot, N, Ali-Pacha, L, Benhassine, T, Chbicheb, M, M’Zahem, A, Hamri, A, Chabrol, B, Pouget, J, Murphy, R, Watanabe, M, Coutinho, P, Tazir, M, Durr, A, Brice, A, Tranchant, C, and Koenig, M
- Published
- 2009
13. Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot-Marie-Tooth Subtype CMT2B1 in Families from North Western Africa
- Author
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Hamadouche, T., Poitelon, Y., Genin, E., Chaouch, M., Tazir, M., Kassouri, N., Nouioua, S., Chaouch, A., Boccaccio, I., Benhassine, T., De Sandre-Giovannoli, A., Grid, D., Lévy, N., and Delague, V.
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- 2008
14. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Author
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Salpietro, V. Dixon, C.L. Guo, H. Bello, O.D. Vandrovcova, J. Efthymiou, S. Maroofian, R. Heimer, G. Burglen, L. Valence, S. Torti, E. Hacke, M. Rankin, J. Tariq, H. Colin, E. Procaccio, V. Striano, P. Mankad, K. Lieb, A. Chen, S. Pisani, L. Bettencourt, C. Männikkö, R. Manole, A. Brusco, A. Grosso, E. Ferrero, G.B. Armstrong-Moron, J. Gueden, S. Bar-Yosef, O. Tzadok, M. Monaghan, K.G. Santiago-Sim, T. Person, R.E. Cho, M.T. Willaert, R. Yoo, Y. Chae, J.-H. Quan, Y. Wu, H. Wang, T. Bernier, R.A. Xia, K. Blesson, A. Jain, M. Motazacker, M.M. Jaeger, B. Schneider, A.L. Boysen, K. Muir, A.M. Myers, C.T. Gavrilova, R.H. Gunderson, L. Schultz-Rogers, L. Klee, E.W. Dyment, D. Osmond, M. Parellada, M. Llorente, C. Gonzalez-Peñas, J. Carracedo, A. Van Haeringen, A. Ruivenkamp, C. Nava, C. Heron, D. Nardello, R. Iacomino, M. Minetti, C. Skabar, A. Fabretto, A. Hanna, M.G. Bugiardini, E. Hostettler, I. O’Callaghan, B. Khan, A. Cortese, A. O’Connor, E. Yau, W.Y. Bourinaris, T. Kaiyrzhanov, R. Chelban, V. Madej, M. Diana, M.C. Vari, M.S. Pedemonte, M. Bruno, C. Balagura, G. Scala, M. Fiorillo, C. Nobili, L. Malintan, N.T. Zanetti, M.N. Krishnakumar, S.S. Lignani, G. Jepson, J.E.C. Broda, P. Baldassari, S. Rossi, P. Fruscione, F. Madia, F. Traverso, M. De-Marco, P. Pérez-Dueñas, B. Munell, F. Kriouile, Y. El-Khorassani, M. Karashova, B. Avdjieva, D. Kathom, H. Tincheva, R. Van-Maldergem, L. Nachbauer, W. Boesch, S. Gagliano, A. Amadori, E. Goraya, J.S. Sultan, T. Kirmani, S. Ibrahim, S. Jan, F. Mine, J. Banu, S. Veggiotti, P. Zuccotti, G.V. Ferrari, M.D. Van Den Maagdenberg, A.M.J. Verrotti, A. Marseglia, G.L. Savasta, S. Soler, M.A. Scuderi, C. Borgione, E. Chimenz, R. Gitto, E. Dipasquale, V. Sallemi, A. Fusco, M. Cuppari, C. Cutrupi, M.C. Ruggieri, M. Cama, A. Capra, V. Mencacci, N.E. Boles, R. Gupta, N. Kabra, M. Papacostas, S. Zamba-Papanicolaou, E. Dardiotis, E. Maqbool, S. Rana, N. Atawneh, O. Lim, S.Y. Shaikh, F. Koutsis, G. Breza, M. Coviello, D.A. Dauvilliers, Y.A. AlKhawaja, I. AlKhawaja, M. Al-Mutairi, F. Stojkovic, T. Ferrucci, V. Zollo, M. Alkuraya, F.S. Kinali, M. Sherifa, H. Benrhouma, H. Turki, I.B.Y. Tazir, M. Obeid, M. Bakhtadze, S. Saadi, N.W. Zaki, M.S. Triki, C.C. Benfenati, F. Gustincich, S. Kara, M. Belcastro, V. Specchio, N. Capovilla, G. Karimiani, E.G. Salih, A.M. Okubadejo, N.U. Ojo, O.O. Oshinaike, O.O. Oguntunde, O. Wahab, K. Bello, A.H. Abubakar, S. Obiabo, Y. Nwazor, E. Ekenze, O. Williams, U. Iyagba, A. Taiwo, L. Komolafe, M. Senkevich, K. Shashkin, C. Zharkynbekova, N. Koneyev, K. Manizha, G. Isrofilov, M. Guliyeva, U. Salayev, K. Khachatryan, S. Rossi, S. Silvestri, G. Haridy, N. Ramenghi, L.A. Xiromerisiou, G. David, E. Aguennouz, M. Fidani, L. Spanaki, C. Tucci, A. Raspall-Chaure, M. Chez, M. Tsai, A. Fassi, E. Shinawi, M. Constantino, J.N. De Zorzi, R. Fortuna, S. Kok, F. Keren, B. Bonneau, D. Choi, M. Benzeev, B. Zara, F. Mefford, H.C. Scheffer, I.E. Clayton-Smith, J. Macaya, A. Rothman, J.E. Eichler, E.E. Kullmann, D.M. Houlden, H. SYNAPS Study Group
- Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission. © 2019, The Author(s).
- Published
- 2019
15. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
- Author
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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. J., Kohncke, G., Castellli, E., Linssen, W., Stegeman, D., Binkhorst, R., Notermans, S., Jaspert, A., Fahsold, R., de Munain, A. Lopez, Cobo, A., Martorell, L., Poza, J. J., Navarrete Palau, D., Emparanza, J. I., Sanchez-Roy, R., Vilchez, J. J., Hernandez, M., Tena, J. Garcia, Perla, C., Koutroumanidis, M., Papathanasopoulos, P., Papadimitriou, A., Papapetropoulos, T. H., Divari, R., Hadjigeorgiou, G. M., Anastasopoulos, I., Sansone, V., Rotondo, G., Meola, G., Rigoletto, C., Messina, S., Szwabowska-Orzeszko, E., Jozwiak, S., Michalowicz, R., Szaplyko, W., Petrella, M. A., Della Marca, G., Masullo, G., Mennuni, G. F., Kompf, D., Wascher, E., Verleger, R., Kaido, M., Soga, F., Toyooka, H., Bayon, C., Rubio, J., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Bonavita, V., Pentore, R., Venneri, A., Pasquier, F., Lebert, F., Grymonprez, L., Lefebvre, C., Van der Linden, M., Derouesné, C., Renault, B., Lacomblez, L., Homeyer, P., Ouss, L., Neuman, E., Malbezin, M., Barrandon, S., Guez, D., Stevens, M., van Swieten, J. C., Franke, C. L., Sanchez, A., Castellvirel, S., Mila, M., Jimenez, D., Pallesta, F., Ruiz, P. J. Garcia, Barrio, A., Barroso, T., Benitez, J., de Yebenes, J. Garcia, Manubens, J. M., Martinez-Lage, J. M., Larumbe, R., Muruzabal, J., Lacruz, F., Quesada, Pedro, Gallego, J., Ferini-Strambi, L., Marcone, A., Garancini, P., Tedesi, B., Jacob, B., Rozewicz, L., Langdon, D., Davie, C., Ron, M., Thompson, A., Koepp, M. J., Hansen, M. L., Guldin, B., Pressler, R. M., Ried, S., Scholz, C., Monaco, F., Gianelli, M., Schiavalla, M. P., Naldi, P., Cantello, R., Torta, R., Verze, L., Mutani, R., Knott, H., Ferbert, A., Schulze-Bonhage, A., Aust, W., Di Mascio, R., Marchioli, R., Vitullo, F., Di Pasquale, A., Sciulli, L., Kramer, V., Tognoni, G., Santacruz, P., Lopez, R., Marti, M. J., Charques, I., Catafau, A., Lomeila, F., Peila, J., Bertran, I., Blesa, R., Krendel, D. A., Costiga, D. A., Koeppen, S., Korn, W. M., Brugge, S., Schmitz, D., Scheulen, M. E., King, R. H. M., Robertson, A. M., Thomas, P. K., Kerkhofs, A., Vermersch, P., Dereeper, O., Daems Monpeun, C., Parent, M., Deplanque, D., Petit, H., Campero, M., Serra, J., Ochoa, J. L., Martinez-Matos, J. A., Montero, J., Olivé, M., Rene, R., Vidaller, A., Gugenheim, M., Gouider, R., Le Guern, E., Brice, A., Agid, Y., Bouche, P., Grisold, W., Ziflo, U., Drlicek, M., Budka, H., Jellinger, K., Zielinski, C. H., Ginsberg, L., King, R. H. M., Workman, J., Platts, A. D., Thomas, P. K., Gherardi, R. K., Florea-Strat, A., Poron, F., Sabourin, J. -C., Fazio, R., Nemni, R., Franceschi, M., Lorenzetti, I., Rinaldi, L., Canal, N., Weilbach, F. X., Sennlaub, A., Jung, S., Gold, R., Toyka, K. V., Hartung, H. P., Giegerich, G., Ellie, E., Vital, A., Steck, A. J., Vital, C., Julien, J., Doneda, P., Pizzul, S., Scarpini, E., Chiodi, P., Ramacci, M. T., Livraghi, S., Maimone, D., Annunziata, P., Salvadori, C., Guazzi, G. C., Arne-Bes, M. C., Delisle, M. B., Fabre, N., Hurtevent, J. F., Bes, A., Baudoin-Martin, D., Laborde, E., Viallet, F., Creisson, C., Crespi, V., Bogliun, G., Marzorati, L., Zincone, A., D'Angelo, L., Liberani, A., Merlini, M., Rivolta, R., Creange, A., Sabourin, J. -C., Theodorou, I., Gherardi, R. K., Conti, A. M., Malosio, M. L., Baron, P. L., Scarlato, G., Chorao, R., Rosas, M. J., Leite, I., Callea, L., Donati, E., Bargnani, C., Bud, M., Verdu, E., Navarro, X., Braun, S., Einius, S., Poindron, P., Warier, J. M., Bradley, J., Bekkelund, S. I., Torbergsen, T., Mellgren, S. I., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Boller, F., Bonavita, V., Engelhardt, A., Lörler, H., Robeck, S., Kluglein, C., Comi, G., Avoledo, V., Locatelli, T., Leocani, L., Galardi, G., Magnani, G., Medaglini, S., Chkhikvishvili, T. S., Zangaladze, A., Bratoeva, M., Kovachev, P., Chavdarov, D., Artemis, N., Karacostas, D., Milonas, I., Arpa, J., Lopez-Pajares, R., Cruz-Matinez, A., Sarria, J., Palomo, F., Alonso, M., Rodriguez-Al-barino, A., Lacasa, T., Nos, J., Barreiro, P., Martinez, A. Cruz, Villoslada, C., Alons, M., Taghavy, A., Hamer, H., Kratzer, A., Dethy, S., Pauwels, T., Monclus, M., Luxen, A., Goldman, S., Ziegler, M., Crambes, O., Ragueneau, I., Arnaud, F., Zappia, M., Montesanti, R., Colao, R., Palmieri, A., Branca, D., Nicoletti, G., Rizzo, M., Parlato, G., Quattrone, A., Vanacore, N., Zuchegna, P., Bonifati, V., Meco, G., Scholz, J., Friedrich, H. -J., Rohl, A., Ulm, G., Vieregge, P., Savettieri, G., Rocca, W. A., Meneghini, F., Grigoletto, F., Morgante, L., Reggio, A., Salemi, G., Di Pierri, R., OzckmekÇi, S., Ertan, S., Yeni, N., Apaydin, H., Erkol, G., Kiziltan, G., Denktas, F., Ranoux, D., de Recondo, J., Ostergaard, L., Werdelin, L., Odin, P., Lindvall, O., Dupont, E., Christensen, P. B., Boisen, E., Jensen, N. B., Schmiegelow, M., Ingwersen, S. H., Matias-Guiu, J., Canet, T., Falip, R., Martin, R., Galiano, L., Voloshin, M. Y., Burchinskaya, L. F., Cabrera-Valdivia, F., Jimenez-Jimenez, F. J., Molina, J. A., Fernandez-Calle, P., Vazquez, A., Canizares-Liebana, F., Larumbe-Lobalde, S., Ayuso-Peralta, L., Rabasa, M., Codoceo, R., Arrieta, F. J., Aguilar, M. V., Jorge-Santamaria, A., Martinez-Para, M. C., Alarcon, J., Mateo, D., Gimenez-Roldan, S., Gencheva, E., Tzonev, T. z., Georgiev, G., Petkova, P., Gasparini, M., Vanacore, N., Meco, N. G., de la Sierra, G., Aguado, F., Revilla, M., Varela, L., Rico, H., Feve, A., N'Guyen, J. P., Bathien, N., Fenelon, G., Veroust, J., Cesaro, P., Egersbach, G., Hattig, H., Schelosky, L., Wissel, J., Poewe, W., Durif, F., Albuisson, E., Debilly, B., Tournilhac, M., Magnani, C., Mocellini, C., Soffietti, R., Schiffer, D., Cardozo, A., Cruz-Sanchez, F. F., Falip, L., Potagas, G., Ziegler, M., Rondot, P., Bonifati, V., Fabrizio, E., Meco, G., Bostantjopoulou, S., Katsarou, Z., Kyriazis, G., Baas, H., Demisch, L., Esser, A., Zoeller, F., Burklin, F., Harder, S., Fischer, P. A., Arcusa, M. J., Hermandez, S., Claramonte, F. J., Pascual, A. Pascual- Leone, Alonso, M. D., Catata, M. D., Alessandri, A., Giustini, P., Dufour, A., Ciusani, E., Nespolo, A., Roelcke U., Radu E. W., von Ammon K., Maguire R. P., Leenders K. L., Radionova, M., Chavdarov, D., Bratoeva, M., Tzekov, Ch., Pietrangeli, A., Bove, L., Pace, A., Falqui, L., Jandolo, B., Potemkowski, A., Muller B., Reinhard I., Krone A., Warmuth M., Brocker E. 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Oliveras, Alameda, F., Alfonso, S., Podobnik-Sarkanji, S., Pniewski, J., Torbicki, A., Mieszkowski, J., Plaza, I., Petrunjashev, V., Velcheva, I., Hadjiev, D., Yancheva, S., Petrov, L., Karakaneva, S., Petkov, A., Nikolov, E., Niehaus, L., Sacchetti, M. L., Toni, D., Fiorelli, M., Gori, C., Argentino, C., Lyrer, Ph., Radu, E. W., Gratzl, O., Rondepierre, Ph., Leclerc, X., Marchau, Jr, M., Scheltens, Ph., Hamon, M., Janssens, E., Henon, H., Lucas, C., KuÇukoglu, H., Baybas, S., Dervis, A., YalÇiner, B., Yilmaz, N., Ozturk, M., Arpaci, B., Navarro, J. A., Arenas, J., Perez-Sempere, A., Egido, J. A., Soriano-Soriano, C., Beau, P., Gergaud, J. -M., Coudero, C., Dierckx, R. A., Dobbeleir, A., Timmermans, E., Vandevivere, J., Lucas, C. H., Gomez, M., Aguirre, J., Berenguer, A., Duran, C., Parrilla, J., Gonzalez, F., Gironell, A., Rey, A., Marti-Vilalta, J. L., de Lecinana, M. Alonso, Federico, F., Conte, C., Simone, I. L., Giannini, P., Liguori, M., Lucivero, V., Picciola, E., Tortorella, C., Drislane, F., Wang, A. Ming, Di Mascio, R., Marchioli, R., Vitullo, F., Di Pasquale, A., Sciulli, L., Kramer, V., Tognoni, G., Levivier, M., del Olmo, A., Caballero, E., Degaey, I., de Bruijn, S. F. T. M., Tchaoussoglou, I., Bastianello, S., Pozzilli, C., Cervello, A., Catala, N., Koskas, F., Kieffer, E., Botia, E., Vivancos, J., Leon, T., Segura, T., Ramo, C., Lopez, F., Karepov, V. G., Gur, A. J., Berlanga, B., Gracia, V., Fiol, C., Kurtel, H., Ozkutlu, U., Yegen, B., Grau, A. J., Buggle, F., Heindle, S., Steichen-Wiehn, C., Banerjee, T., Maiwald, M., Becher, H., Villafana, W., Medina, F., Fernandez-Real, J. M., Soler, S., Planas, E., Iceman, E., Doganer, I., Badlan, G., Genc, B., Yulug, K., Ideman, E., Dural, H., Kutlul, K., Damalik, G., Baklan, Y., Metin, B., Tekinsoy, E., Iriarte, I., Subira, M. L., Crockar, A. D., Treacy, M., McNell, T. A., Grazzi, L., Ediboglu, N., Bilgin, H., Ertas, S., Goument, J. -P., Basset, C., Campos, Y., Garcia-Silva, T., Cabello, A., Bussaglia, E., Tizzano, E., Colomer, J., Gimbergues, P., Campagne, D., Bommelaer, C., Delaguillaume, B., Ramtami, H., Ait-Kaci-Ahmed, M., Pascual L. F., Fernandez T., Hortells M., Sanz C., Morales F., Lauritzen, L., Picard, F., Sellal, F., Collard, M., Avramidis, T., Alexiou, E., Anastopoulos, T., Frongillo, D., Delfino, F. A., Cannata, M., Calo, L., Vichi, R., Antonini, G., Fragola, V., Cannata, D., Salas, M., Ruiz, C., Angelard, B., Lacau, J., Guily, St., Sendtner, M., Goadsby, Peter J., Quin, N. P., Gadian, D. G., Roland, P. E., Seitz, Rudiger J., Frackowiak, Richard S. J., Becker, G., Krone, A., Schmidt, K., Hofmann, E., Bogdahn, U., Rosenfeld, M. R., Meneses, P., Kaplitt, M. G., Dalmau, J., Posner, J., Cordon-Cardon, C., Hoang-Xuan, K., Vega, F., Nishisho, I., Moisan, J. P., Theillet, C., Delattre, O., Zhu, Jiahong, Walther, W., Posner, J. B., Roelcke, U., von Ammon, K., Pellikka, R., Lucking, C. H., Walon, C., Boucquey, D., -Van Rijckevorsel, K. Harmant, Lannoy, N., Verellen-Dunoulin, Ch., Liszka, U., Cavaletti, G., Casati, B., Kolig, C., Bogliun, G., Marzorati, L., Johannsen, L., Chio, A., Ruda, R., Vigliani, M. C., Sciolla, R., Seliak, D., Hoang-Xuang, K., Villanueva, J. A., Montalban, X., Arboix, A., Colosimo, C., Albanese, A., Hughes, A. J., de Bruin, V., Lees, A. J., Kowalski, J. W., Banfi, S., Santoro, L., Perretti, A., Castaldo, I., Barbieri, F., Campanella, G., Bhatia, K. P., Mardsen, C. D., de Bruin, V. S., Machedo, C., Ceballos-Baumann, D., Marsden, C. D., Brooks, D. B. J., Wennlng, G. K., Quinn, N., McDonald, W. l., Warner, T. T., Bain, P. C., Davis, M. B., Conway, D., Shaunak, S., O'Sullivan, E., Crawford, T., Lawden, M., Blunt, S., Rapoport, A., Sarova-Pinchas, I., de Beyl, D. Zegers, Mavroudakis, N., Blanc, S., Godinot, C., Lenoir, G., Barkhof, M. S. F., Tas, M. W., Baron, P. L., Constantin, C., Cassatella, M. A., Langdon, D. W., Webb, S., Gasparini, P., Zeviani, A., Kidd, D., Mammi, S., Cahalon, L., Hershkoviz, R., Lahat, N., Wallach, D., Annunziata, P., Martino, T., Maimone, D., Guazzi, G. C., Porrini, A. M., Dell'Arciprete, L., Rothwell, P. M., Stewart, R. R. C., Cull, R. E., Willmes, K., Poeck, K., Russell, D., Braekken, S. K., Brucher, R., Svennevig, J., Hermesl, M., Bruckmann, H., Biraben, A., Sliwka, U., Meyer, B., Schondube, F., Noth, J., Lavenu, I., Lammers, C., Waldecker, B., Haberbosch, W., Stam, J., Schneider, R., Gautier, J. C., Berlit, T. P., Fauser, B., Kuhne, D., Geraud, G., Danielli, A., Larrue, V., Bes, A., Timmerman, E., Bono, F., Bruni, A. C., Valalentino, P., Montesi, M. P., Talerico, G., Zappia, M., Sabatelli, M., Quattrone, A., Pareyson, D., Lorenzetti, D., Sghirlanzoni, A., Castellotti, B., Lupski, J. R., Archidiacono, N., Antonacci, R., Marzella, R., Rocchi, M., Samuel, D., Goulon-Goeau, C., Costa, P. P., Bismuth, H., Said, G., De Jongh P., Lofgren A., Timmerman V., Vance J. M., Van Broeckhoven C., Martin J. -J., Martinez, A. Cruz, Bort, S., Arpa, J., Misra, P., King, R. H. M., Badhia, K., Anderson, M., Caballo, A., Vichez, J., Gabriel, J. M., Erne, B., Miescher, G. C., Ulrich, J., Vital, A., Vital, C., Steck, A., Petry, K., Labatut, I., Hilmi, S., Ellie, E., Ferrini-Strambi, L., Zucconl, M., Marchettini, P., Palazzi, S., Oehlschlager, M., Pepinsky, R. B., Gemignani, F., Marbini, A., Pavesi, G., Di Vittorio, S., Manganelli, P., Mancia, D., Vermersh, P., Roche, J., Durocher, A. M., Dewailly, Ph., Dettmers, C., Fink, G., Lemon, R., Stephan, K., Passingham, D., Weder, B., Knorr, U., Huang, Y., Butterfield, D. A., Peris, M. L., Peiro, C., Pascual, A. Pascual-Leone, Bottini, G., Folnegovic-Smalc, V., Knezevic, S., Bokonjic, R., Ersmark, B., Torres, M. Gonzalez, Guiraud-Chaumeil, B., Haugaard, K., Jovicic, A., Chr, Lang, Levic, Z., Parra, C. Martinez, Ochoa, J. Patrignani, Titlbach, O., Wikkelso, C., Caparros-Lefevre, D., Debachy, B., Verier, A., Cantinho, G., Santos, A. I., Godinho, F., Bagunya, J., Roig, T., Ensenyat, A., Santiag, O., Trabucchi, H., De Leo, D., Koch, Ch., Zeumer, H., Matkovic, Z., Morris, P., Donaghy, M., Köhler, W., Kammer, T., Röther, J., Navon, R., Fontaine, B., Wu, Y., Capdevila, A., Guardiola, M. J., van Dijk, G. W., Notermans, N. C., Kruize, A. A., Kater, L., Bertelt, C., Hesse, S., Friedrich, H., Mauritz, K. -H., Giron, L. T., Watanabe, I. S., Ewing, D., Koepp, M., Lempert, T., Sander, B., Kauerz, U., Mehdorn, H. M., Hezel, J., Eickhoff, W., Kryst, T., Timsit, S., Gardeur, D., Reis, Mitermayer Galvao dos, Secor, E., Filho, A. Andrade, Silva, M. Cardoso, Santos, S. R. Silveira, Vasilaski, G., Reis, E. A. dos, Velupillai, P., Harn, D. A., Tigera, J. Garcia, Dreke, R. Martinez, Crespo, R. Piedra, Besses, C., Acin, P., Massons, J., Florensa, L., Oliveres, M., Sans-Sabrafen, J., Wicklein, E. 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
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- 1994
- Full Text
- View/download PDF
16. The G2019S LRRK2 mutation is frequent in North African families with Parkinsonʼs disease: SC315
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Lesage, S., Ibanez, P., Lohmann, E., Pollak, P., Tison, F., Tazir, M., Leutenegger, A. L., Guimaraes, J., Bonnet, A. M., Dürr, A., and Brice, A.
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- 2005
17. Eight new mutations of KIAA1985 gene associated with severe form of demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4C) in eleven families and a founder effect occur in families originated from North Africa and Europe: SC221
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Azzedine, H., Tazir, M., Ravise, N., Gabreels-Festens, A., Lammens, M., Dubourg, O., Senderek, J., Verny, C., Brice, A., Grid, D., Birouk, N., and LeGuern, E.
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- 2005
18. RECESSIVE HEREDITARY NEUROPATHIES. CLINICAL, MORPHOLOGICAL AND GENETIC STUDIES OF 150 ALGERIAN FAMILIES
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Vallat, J-M, Tazir, M, and Grid, D
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- 2005
19. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, Tucci, A, Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, and Tucci, A
- Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
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- 2019
20. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
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Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), Santoro L., Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), and Santoro L.
- Abstract
Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. Methods: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. Results: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. Interpretation: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.
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- 2019
21. Autosomal recessive forms of Charcot–Marie–Tooth disease: MT9-3
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Vallat, J. M., Grid, D., Magdelaine, C., Sturtz, F., and Tazir, M.
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- 2004
22. Phenotypic variability in autosomal recessive axonal Charcot–Marie–Tooth disease due to the R298C mutation in lamin A/C
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Tazir, M., Azzedine, H., Assami, S., Sindou, P., Nouioua, S., Zemmouri, R., Hamadouche, T., Chaouch, M., Feingold, J., Vallat, J. M., Leguern, E., and Grid, D.
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- 2004
23. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
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Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network
- Abstract
IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. OBJECTIVES To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence. DESIGN, SETTING, AND PARTICIPANTS Three hundred nineteen index patients with CA and without a history of dominant transmission were included in the this cohort study by the Spastic Paraplegia and Ataxia Network. Centralized storage was in the DNA and cell bank of the Brain and Spine Institute, Salpetriere Hospital, Paris, France. Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. Detected variants were classified as very probably or definitely causative, possibly causative, or of unknown significance based on genetic evidence and genotype-phenotype considerations. MAIN OUTCOMES AND MEASURES Identification of variants in genes broadly linked to CA, classified in pathogenicity groups. RESULTS The 319 included patients had equal sex distribution (160 female [50.2%] and 159 male patients [49.8%]; mean [SD] age at onset, 27.9 [18.6] years). The age at onset was younger than 25 years for 131 of 298 patients (44.0%) with complete clinical information. Consanguinity was present in 101 of 298 (33.9%). Very probable or definite diagnoses were achieved for 72 patients (22.6%), with an additional 19 (6.0%) harboring possibly pathogenic variants. The most frequently mutated genes were SPG7 (n = 14), SACS (n = 8), SETX (n = 7), SYNE1 (n = 6), and CACNA1A (n = 6). The highest diagnostic rate was obtained for patients with an autosomal recessive CA with oculomotor apraxia-like phenotype (6 of 17 [35.3%]) or spastic ataxia (35 of 100 [35.0%]) and patients with onset before 25 years of age (41 of 131 [31.3%]). Peculiar phenotypes were reported for patients carrying KCND3 or ERCC5 variants. CONCLUSIONS AND RELEVANCE Exome capture followed by targeted analysis allows the molecular diagnosis in patients with highly heterogeneous mendelian disorders, such as CA, without prior assumption of the inheritance mode or causative gene. Being commonly available without specific design need, this procedure allows testing of a broader range of genes, consequently describing less classic phenotype-genotype correlations, and post hoc reanalysis of data as new genes are implicated in the disease. © 2018 American Medical Association. All rights reserved.
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- 2018
24. CICP: Cluster Iterative Closest Point for sparse–dense point cloud registration
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Lamine Tazir, M., primary, Gokhool, Tawsif, additional, Checchin, Paul, additional, Malaterre, Laurent, additional, and Trassoudaine, Laurent, additional
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- 2018
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25. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
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Healy, Daniel G., Mario, Falchi, O'Sullivan, Sean S., Bonifati, Vincenzo, Alexandra, Durr, Susan, Bressman, Alexis, Brice, Jan, Aasly, Zabetian, Cyrus P., Stefano, Goldwurm, Ferreira, Joaquim J., Eduardo, Tolosa, Kay, Denise M., Christine, Klein, Williams, David R., Connie, Marras, Lang, Anthony E., Wszolek, Zbigniew K., Jose, Berciano, Schapira, Anthony H. V., Timothy, Lynch, Bhatia, Kailash P., Thomas, Gasser, Lees, Andrew J., Wood, Nicholas W., International Lrrk Consortium, Collaborators, Tazir, M., Ysmail Dahlouk, F., Belarbi, S., Hecham, N., Barbosa, E., Chien, H. F., Rieder, C. R., Jardim, L. B., Rogaeva, E., Lesage, S., Lohmann, E., Vidailhet, M., Bonnet, A. M., Agid, Y., Pollak, P., Tison, F., Durif, F., Broussolle, E., Berg, D., Hagenah, J., Gosal, D., Gibson, M., Vanacore, Nicola, Berardelli, Alfredo, Fabbrini, Giovanni, Fabrizio, E., Meco, Giuseppe, Stocchi, F., Dalla Libera, A., De Mari, M., Lamberti, P., Cossu, G., Pezzoli, G., Zini, M., Tesei, S., Zecchinelli, A., Sironi, F., Antonini, A., Mariani, C., Sacilotto, G., Meucci, N., Canesi, M., Di Fonzo, A., Oostra, B., Correia Guedes, L., Rosa, Mm, Coelho, M., Sampaio, C., Gaig, C., C. S., Lu, Wu Chou, Y. H., Quinn, N. P., Abou Sleiman, P. M., Muqit, M. M., Khan, N. L., Gandhi, S., Vaughan, J., Payami, H., Nutt, J. J., Factor, S. A., Higgins, D. S., Farrer, M. J., Hulihan, M., Brown, L., Mata, I. F., Samii, A., Yearout, D., Griffith, A., Leis, B. C., Roberts, J. W., Clinical Genetics, Department of Clinical Neurosciences, University College of London [London] (UCL)-Institute of Neurology, Genomic Medicine, Imperial College London-Kings College, Reta Lila Weston Institute for Neurological Studies, Queen Mary University of London (QMUL), Department of Clinical Genetics (DCG), Erasmus University Medical Centre, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Beth Israel Medical Centre- Albert Einstein College of Medicine [New York], St. Olav's Hospital, University of Washington [Seattle], Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Parkinson Institute, Istituti Clinici di Perfezionamento, Neurological Clinic Research Unit, Institute of Molecular Medicine-Lisbon School of Medicine, Neurology Service, Institut Clinic Maltias del Sistema Nervios-Hospital Clinic Universitari-University of Barcelona, Division of Genetic Disorders, New York State Department of Health [Albany], University of Luebeck, Faculty of Medicine (Neurosciences), Monash University [Clayton], University of Toronto, Mayo Clinic Jacksonville, Service of Neurology, Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Salud Carlos III [Madrid] (ISC), Mater Misericordiae University Hospital (The Mater Hospital), Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Department of Neurodegenerative Diseases, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen-Hertie-Institut for Clinical Brain Research, Department of Molecular Pathogenesis, UK Medical Research Council, UK Parkinson's Disease Society, UK Brain Research Trust, Internationaal Parkinson Fonds, Volkswagen Foundation, National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging, Udall Parkinson's Disease Centre of Excellence, Pacific Alzheimer Research Foundation Centre, Italian Telethon Foundation, Fondazione Grigioni per il Morbo di Parkinson, Michael J Fox Foundation for Parkinson's Research, Safra Global Genetics Consortium, US Department of Veterans Affairs, French Agence Nationale de la Recherche., ANR-05-NEUR-0019,LRRK2 in PD,Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson(2005), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Beth Israel Medical Centre- Albert Einstein College of Medicine, CIBER de Enfermedades Neurodegenerativas (CIBERNED), Mater Misericordiae University Hospital, Eberhard Karls Universität Tübingen-Hertie-Institut for Clinical Brain Research, ANR-05-NEURO-019,ANR-05-NEURO-019, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
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Gerontology ,Male ,Risk ,Pediatrics ,medicine.medical_specialty ,Parkinson's disease ,Genotype ,International Cooperation ,DNA Mutational Analysis ,Glycine ,Clinical Neurology ,Penetrance ,Disease ,Protein Serine-Threonine Kinases ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Severity of Illness Index ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Serine ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Age of Onset ,030304 developmental biology ,Genetic testing ,Family Health ,0303 health sciences ,medicine.diagnostic_test ,business.industry ,Case-control study ,Age Factors ,Parkinson Disease ,medicine.disease ,LRRK2 ,3. Good health ,nervous system diseases ,Dyskinesia ,Case-Control Studies ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Female ,Neurology (clinical) ,genetics ,parkinson ,Age of onset ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2 -associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2 ? Methods Researchers from 21 centres across the world collaborated on this study. The frequency of the common LRRK2 Gly2019Ser mutation was estimated on the basis of data from 24 populations worldwide, and the penetrance of the mutation was defined in 1045 people with mutations in LRRK2 from 133 families. The LRRK2 phenotype was defined on the basis of 59 motor and non-motor symptoms in 356 patients with LRRK2 -associated PD and compared with the symptoms of 543 patients with pathologically proven idiopathic PD. Findings Six mutations met the consortium's criteria for being proven pathogenic. The frequency of the common LRRK2 Gly2019Ser mutation was 1% of patients with sporadic PD and 4% of patients with hereditary PD; the frequency was highest in the middle east and higher in southern Europe than in northern Europe. The risk of PD for a person who inherits the LRRK2 Gly2019Ser mutation was 28% at age 59 years, 51% at 69 years, and 74% at 79 years. The motor symptoms (eg, disease severity, rate of progression, occurrence of falls, and dyskinesia) and non-motor symptoms (eg, cognition and olfaction) of LRRK2 -associated PD were more benign than those of idiopathic PD. Interpretation Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD. However, this knowledge should be applied with caution in the diagnosis and counselling of patients. Funding UK Medical Research Council; UK Parkinson's Disease Society; UK Brain Research Trust; Internationaal Parkinson Fonds; Volkswagen Foundation; National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging; Udall Parkinson's Disease Centre of Excellence; Pacific Alzheimer Research Foundation Centre; Italian Telethon Foundation; Fondazione Grigioni per il Morbo di Parkinson; Michael J Fox Foundation for Parkinson's Research; Safra Global Genetics Consortium; US Department of Veterans Affairs; French Agence Nationale de la Recherche.
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- 2008
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26. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
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Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S.M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G., Tison, F., Tranchant, C., Vidailhet, M., Corvol, J.C., Krack, P., Leutenegger, A.L., Nalls, M.A., Hernandez, D.G., Heutink, P., Gibbs, J.R., Hardy, J., Wood, N.W., Gasser, T., Durr, A., Deleuze, J.F., Tazir, M., Destee, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., Scheffer, H., Bloem, B.R., et al., Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier-Dequaire, F., Hassoun, S.M., Pujol, C., Ciura, S., Erpapazoglou, Z., Usenko, T., Maurage, C.A., Sahbatou, M., Liebau, S., Ding, J., Bilgic, B., Emre, M., Erginel-Unaltuna, N., Guven, G., Tison, F., Tranchant, C., Vidailhet, M., Corvol, J.C., Krack, P., Leutenegger, A.L., Nalls, M.A., Hernandez, D.G., Heutink, P., Gibbs, J.R., Hardy, J., Wood, N.W., Gasser, T., Durr, A., Deleuze, J.F., Tazir, M., Destee, A., Lohmann, E., Kabashi, E., Singleton, A., Corti, O., Brice, A., Scheffer, H., Bloem, B.R., and et al.
- Abstract
Contains fulltext : 167923.pdf (publisher's version ) (Open Access), Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.
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- 2016
27. Autosomal recessive Charcot Marie Tooth families linked to the 1q21 locus
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AZZEDINE, H., Durosier, G., Tazir, M., Birouk, N., Bouhouch, A., Salih, M., Hamadouche, T., Mahmoudi, D., Masmoudi, A., Vandenberg, A., Dubourg, E., Grid, D., Brice, A., and Leguern, E.
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Genetic disorders -- Research ,Charcot-Marie-Tooth disease -- Genetic aspects ,Peripheral nerve diseases -- Genetic aspects ,Human genetics -- Research ,Biological sciences - Published
- 2001
28. DETECTING AND ANALYZING CORROSION SPOTS ON THE HULL OF LARGE MARINE VESSELS USING COLORED 3D LIDAR POINT CLOUDS
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Aijazi, A. K., primary, Malaterre, L., additional, Tazir, M. L., additional, Trassoudaine, L., additional, and Checchin, P., additional
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- 2016
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29. Evolution of antimicrobial resistance and serotype distribution of Streptococcus pneumoniae isolated from children with invasive and noninvasive pneumococcal diseases in Algeria from 2005 to 2012
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Ramdani-Bouguessa, N., primary, Ziane, H., additional, Bekhoucha, S., additional, Guechi, Z., additional, Azzam, A., additional, Touati, D., additional, Naim, M., additional, Azrou, S., additional, Hamidi, M., additional, Mertani, A., additional, Laraba, A., additional, Annane, T., additional, Kermani, S., additional, and Tazir, M., additional
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- 2015
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30. Low disease risk in relatives of north african lrrk2 Parkinson disease patients
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Troiano, André, Elbaz, Alexis, Lohmann, E., Belarbi, S., Vidailhet, Marie, Bonnet, A.-M., Lesage, Suzanne, Pollak, Pierre, Cazeneuve, Cécile, Borg, Michel, Feingold, Josué, Dürr, Alexandra, Tazir, M., Brice, Alexis, Study Group, For The French Parkinson Disease Genetic, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroépidémiologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Recherche en Neurosciences, CHU Mustapha, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurologie, Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), ANR-05-NEUR-0019,LRRK2 in PD,Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson(2005), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Lesage, Suzanne, and Neurosciences, neurologie et psychiatrie - Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson - - LRRK2 in PD2005 - ANR-05-NEUR-0019 - NEURO - VALID
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Proband ,Risk ,Pediatrics ,medicine.medical_specialty ,Protein-Serine-Threonine Kinases/genetics ,Population ,Disease ,Protein Serine-Threonine Kinases ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,03 medical and health sciences ,0302 clinical medicine ,Africa, Northern ,Informed consent ,Medicine ,Outpatient clinic ,Humans ,Genetic Predisposition to Disease ,Family ,[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Family history ,Parkinson Disease/genetics ,education ,030304 developmental biology ,0303 health sciences ,education.field_of_study ,business.industry ,Genetic Predisposition to Disease/genetics ,Parkinson Disease ,LRRK2 ,Penetrance ,3. Good health ,ddc:616.8 ,Mutation ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Currently, mutations in the leucine repeat–rich kinase 2 (LRRK2) gene are the main identifiable genetic cause of Parkinson disease (PD). The Gly2019Ser (G2019S) substitution is the most common mutation and is frequent among North African (40%) and Jewish (30%) patients with familial PD. Reduced G2019S penetrance has been documented in several reports.1–3 The identification of LRRK2 mutations in numerous North African patients without PD family history prompted us to investigate disease risk in presumed mutation carriers in this population. ### Methods. PD cases were recruited by a national French network (French PD Genetic Study Group) and collaborators from Algeria at their outpatient clinic (September 1994 through August 2007). Blood samples were collected from participants after obtaining written informed consent, and molecular analyses were performed.4 For this study, we included probands of North African ancestry who were heterozygous or homozygous G2019S carriers (figure e-1 on the Neurology ® Web site at www.neurology.org). They were interviewed to obtain information on their first-degree relatives. Relatives were analyzed from birth through 1 of the following events, whichever occurred first: PD onset or last contact or death without PD. The cumulative risk of PD until age 80 years in first-degree relatives was estimated using the Kaplan-Meier …
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- 2010
31. The spectrum of congenital peripheral neuropathies : 14 cases
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Vallat, Jean-Michel, Tazir, M., Richard, L., Garcia-Bragado, F., Magdelaine, Corinne, Funalot, Benoît, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Centre de référence national neuropathies périphériques rares [CHU Limoges], Service de Biochimie et Génétique Moléculaire [CHU Limoges], and Sturtz, Franck
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[SDV.GEN]Life Sciences [q-bio]/Genetics ,[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] - Published
- 2009
32. Paraplégies spastiques familiales : étude d’une série de 70 familles et corrélations phénotype/génotype
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Kediha, M.I., primary, Nouioua, S., additional, Brice, A., additional, Assami, S., additional, Stevanin, G., additional, and Tazir, M., additional
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- 2014
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33. Diagnostic de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS) chez des patients algériens
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Hamza, W., primary, Pacha, L.A., additional, Hamadouche, T., additional, Tazir, M., additional, Koenig, M., additional, and Benhassine, T., additional
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- 2014
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34. Immunogenicity of toxins during Staphylococcus aureus infection
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Verkaik, N.J. (Nelianne), Dauwalder, O. (Olivier), Antri, K. (Kenza), Boubekri, I. (Ilhem), Vogel, C.P. (Corné) de, Badiou, C. (Cédric), Bes, M. (Michèle), Vandenesch, F. (François), Tazir, M. (Mohammed), Hooijkaas, H. (Herbert), Verbrugh, H.A. (Henri), Belkum, A.F. (Alex) van, Etienne, J. (Jerome), Lina, G. (Gérard), Ramdani-Bouguessa, N. (Nadjia), Wamel, W.J.B. (Willem) van, Verkaik, N.J. (Nelianne), Dauwalder, O. (Olivier), Antri, K. (Kenza), Boubekri, I. (Ilhem), Vogel, C.P. (Corné) de, Badiou, C. (Cédric), Bes, M. (Michèle), Vandenesch, F. (François), Tazir, M. (Mohammed), Hooijkaas, H. (Herbert), Verbrugh, H.A. (Henri), Belkum, A.F. (Alex) van, Etienne, J. (Jerome), Lina, G. (Gérard), Ramdani-Bouguessa, N. (Nadjia), and Wamel, W.J.B. (Willem) van
- Abstract
AB - BACKGROUND: Toxins are important Staphylococcus aureus virulence factors, but little is known about their immunogenicity during infection. Here, additional insight is generated. METHODS: Serum samples from 206 S. aureus-infected patients and 201 hospital-admitted control subjects were analyzed for immunoglobulin (Ig) G binding to 20 toxins, using flow-cytometry based technology. Antibody levels were associated with po
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- 2010
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35. Immunogenicity of Toxins during Staphylococcus aureus Infection
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Verkaik, Nelianne, Dauwalder, O, Antri, K, Boubekri, I, de Vogel, Corne, Badiou, C, Bes, M, Vandenesch, F, Tazir, M, Hooijkaas, H (Herbert), Verbrugh, Henri, Belkum, Alex, Etienne, J, Lina, G, Ramdani-Bouguessa, N, van Wamel, Willem, Verkaik, Nelianne, Dauwalder, O, Antri, K, Boubekri, I, de Vogel, Corne, Badiou, C, Bes, M, Vandenesch, F, Tazir, M, Hooijkaas, H (Herbert), Verbrugh, Henri, Belkum, Alex, Etienne, J, Lina, G, Ramdani-Bouguessa, N, and van Wamel, Willem
- Abstract
Background. Toxins are important Staphylococcus aureus virulence factors, but little is known about their immunogenicity during infection. Here, additional insight is generated. Methods. Serum samples from 206 S. aureus-infected patients and 201 hospital-admitted control subjects were analyzed for immunoglobulin (Ig) G binding to 20 toxins, using flow-cytometry based technology. Antibody levels were associated with polymerase chain reaction-defined presence of toxin genes in homologous S. aureus isolates. Results. IgG levels directed to exfoliative toxin (ET) A, ETB, gamma hemolysin B (HlgB), leukocidin (Luk) D, LukE, LukS, staphylococcal enterotoxin (SE) A, SEE, SEH, SEI, and SElM were higher in S. aureus-infected patients than in control subjects (P < 0.05). Furthermore, P < .05 in the S. aureus-infected patient group, IgG levels were higher if genes encoding ETA, ETB, SEA, SEC, SEH, SElQ, toxic shock syndrome toxin-1 (TSST-1), or Panton-Valentine leukocidin (PVL) were present in the infectious isolate (P < .05). Levels of anti-SEA IgG increased during infections with seapositive (median fluorescence intensity from 11,555 to 12,388; P < .05) but not sea-negative strains. In addition, anti-LukS IgG levels increased during skin and soft-tissue infections with luk-PV-positive (median fluorescence intensity from 15,231 to 15,911; P < .05) but not luk-PV-negative strains. Bacteremia was associated with sea (odds ratio, 3.4; 95% confidence interval, 1.2-10.0) and tst (odds ratio, 5.7; 95% confidence interval, 1.6-20.8). Skin and soft-tissue infections and bone and joint infections were associated with luk-PV (odds ratio, 2.5; 95% confidence interval, 1.2-5.2). Conclusions. Many toxins are expressed in vivo and recognized by the immune system during staphylococcal infections, suggesting their involvement in S. aureus pathogenesis.
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- 2010
36. Autosomal recessive cerebellar ataxia: A clinical and genetic study
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Ali-Pacha, L., primary, Hamza, W., additional, Nouioua, S., additional, Lagier-Tourenne, C., additional, Assami, S., additional, Benhassine, T., additional, Koenig, M., additional, and Tazir, M., additional
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- 2013
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37. Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency
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Nouioua, S., primary, Cheillan, D., additional, Zaouidi, S., additional, Salomons, G.S., additional, Amedjout, N., additional, Kessaci, F., additional, Boulahdour, N., additional, Hamadouche, T., additional, and Tazir, M., additional
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- 2013
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38. Diagnostic génétique de la forme PARK8 de la maladie de Parkinson en Algérie par recherche de la mutation c 6055G>A (p gly2019ser) dans le gène LRRK2
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Hamadouche, T., primary, Belarbi, S., additional, Hecham, N., additional, Lesage, S., additional, Brice, A., additional, Tazir, M., additional, and Benhassine, T., additional
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- 2013
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39. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
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Azzedine, H., Ravise, N., Verny, C., Gabreëls-Festen, A.A.W.M., Lammens, M.M.Y., Grid, D., Vallat, J.M., Durosier, G., Senderek, J., Nouioua, S., Hamadouche, T., Bouhouche, A., Guilbot, A., Stendel, C., Ruberg, M., Brice, A., Birouk, N., Dubourg, O., Tazir, M., LeGuern, E., Azzedine, H., Ravise, N., Verny, C., Gabreëls-Festen, A.A.W.M., Lammens, M.M.Y., Grid, D., Vallat, J.M., Durosier, G., Senderek, J., Nouioua, S., Hamadouche, T., Bouhouche, A., Guilbot, A., Stendel, C., Ruberg, M., Brice, A., Birouk, N., Dubourg, O., Tazir, M., and LeGuern, E.
- Abstract
Item does not contain fulltext, BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal dominant, X-linked, and autosomal recessive (AR) CMT. A locus responsible for the demyelinating form of ARCMT was assigned to the 5q23-q33 region (CMT4C) by homozygosity mapping. Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin. OBJECTIVE: To identify mutations in the SH3TC2 gene. METHODS: The authors searched for SH3TC2 gene mutations in 10 consanguineous CMT families putatively linked to the CMT4C locus on the basis of haplotype segregation and linkage analysis. RESULTS: Ten families had mutations, eight of which were new and one, R954X, recurrent. Six of the 10 mutations were in exon 11. Onset occurred between ages 2 and 10. Scoliosis or kyphoscoliosis and foot deformities were found in almost all patients and were often inaugural. The median motor nerve conduction velocity values (=34 m/s) were not correlated with disease duration. The functional disability score was =3, indicating that the patients could walk without help. Unexpectedly, typical giant axons were observed on biopsies from a large Algerian family. CONCLUSIONS: Charcot-Marie-Tooth type 4C (CMT4C) is less severe than other autosomal recessive (AR) CMT. Intrafamilial variability is important, making phenotype-genotype correlations difficult, but spine deformities are clearly a hallmark of CMT4C. In the presence of scoliosis, a neurologic examination is recommended. Giant axons on biopsies are also suggestive of CMT4C. For genetic analysis, the R954X mutation should be looked for before systematic sequencing of exon 11.
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- 2006
40. P070 IL-17 and nitric oxide pathways are involved in inflammatory response during Alzheimer’s disease: A study in Algerian patients
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Belkhelfa, M., primary, Rafa, H., additional, Medjeber, O., additional, Behairi, N., additional, Abada-Bendib, M., additional, Makrelouf, M., additional, Belarbi, S., additional, Masmoudi, A.N., additional, Tazir, M., additional, and Touil-Boukoffa, C., additional
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- 2012
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41. P118 Évolution de la flore microbienne et de l’antibiorésistance chez le diabétique
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Ouerdane, K., primary, Aouiche, S., additional, Azzouz, M., additional, Hannachi, R., additional, Meftah, A., additional, Djennane, F., additional, Tazir, M., additional, and Boudiba, A., additional
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- 2012
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42. O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease
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Bindoff, L.A., primary, Fiskerstrand, T., additional, Brahim, D. H’mida-Ben, additional, Johansson, S., additional, M’zahem, A., additional, Haukanes, B.I., additional, Drouot, N., additional, Zimmermann, J., additional, Cole, A.J., additional, Vedeler, C., additional, Bredrup, C., additional, Assoum, M., additional, Tazir, M., additional, Klockgether, T., additional, Hamri, A., additional, Steen, V.M., additional, Boman, H., additional, Koenig, M., additional, and Knappskog, P.M., additional
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- 2010
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43. Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
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H’mida-Ben Brahim, D., primary, M’zahem, A., additional, Assoum, M., additional, Bouhlal, Y., additional, Fattori, F., additional, Anheim, M., additional, Ali-Pacha, L., additional, Ferrat, F., additional, Chaouch, M., additional, Lagier-Tourenne, C., additional, Drouot, N., additional, Thibaut, C., additional, Benhassine, T., additional, Sifi, Y., additional, Stoppa-Lyonnet, D., additional, N’Guyen, K., additional, Poujet, J., additional, Hamri, A., additional, Hentati, F., additional, Amouri, R., additional, Santorelli, F. M., additional, Tazir, M., additional, and Koenig, M., additional
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- 2010
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44. Forte prévalence des infections communautaires et nosocomiales à Staphylococus aureus résistant à la méticilline et portant le gène de la leucocidine de Panton-Valentine dans l’Algérois
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Antri, K., primary, Rouzic, N., additional, Boubekri, I., additional, Dauwalder, O., additional, Beloufa, A., additional, Ziane, H., additional, Djennane, F., additional, Neggazi, M., additional, Benhabyles, B., additional, Bes, M., additional, Tazir, M., additional, Étienne, J., additional, and Ramdani-Bouguessa, N., additional
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- 2010
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45. Ataxie avec apraxie oculomotrice de type 2 (AOA2) : étude clinique, biologique et corrélation génotype/phénotype d’une cohorte de 90 patients
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Anheim, M., primary, Monga, B., additional, Fleury, M., additional, Charles, P., additional, Barbot, C., additional, Salih, M., additional, Delaunoy, J.-P., additional, Fritsch, M., additional, Arning, L., additional, Synofzik, M., additional, Schöls, L., additional, Sequeiros, J., additional, Goizet, C., additional, Marelli, C., additional, Le Ber, I., additional, Koht, J., additional, Gazulla, J., additional, De Bleecker, J., additional, Mukhtar, M., additional, Drouot, N., additional, Ali-Pacha, L., additional, Benhassine, T., additional, Chbiche, M., additional, M’zahem, A., additional, Hamri, A., additional, Chabrol, B., additional, Pouget, J., additional, Murphy, R., additional, Watanabe, M., additional, Coutinho, P., additional, Tazir, M., additional, Durr, A., additional, Brice, A., additional, Tranchant, C., additional, and Koenig, M., additional
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- 2010
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46. Antimicrobial Resistance of Respiratory Pathogens in North African Countries
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Benouda, A., primary, Ben Redjeb, S., additional, Hammami, A., additional, Sibille, S., additional, Tazir, M., additional, and Ramdani-Bouguessa, N., additional
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- 2009
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47. G.P.10.09 Description of a family associating a calpainopathy and a Duchenne myopathy
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Nouioua, S., primary, Cobo, A.M., additional, Benhassine, T., additional, Urtizberea, A., additional, Slimani, S., additional, Terki, N., additional, Assami, S., additional, and Tazir, M., additional
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- 2009
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48. G.P.4.04 A new MTMR2 mutation is responsible for a congenital form of Charcot-Marie-Tooth disease (CMT4B1) and vocal cord paresis
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Tazir, M., primary, Nouioua, S., additional, Hamadouche, T., additional, Bernard, R., additional, Grid, D., additional, Levy, N., additional, and Vallat, J.M., additional
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- 2009
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49. G.P.10.01 DMD and SGCG molecular analysis in 200 Algerian patients affected with progressive muscular dystrophies
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Benhassine, T., primary, Hamadouche, T., additional, Icheboudene, K., additional, Drali, R., additional, Nouioua, S., additional, Makri, S., additional, Chaouch, M., additional, and Tazir, M., additional
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- 2009
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50. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
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Richard, P., primary, Gaudon, K., additional, Haddad, H., additional, Ammar, A. Ben, additional, Genin, E., additional, Bauché, S., additional, Paturneau-Jouas, M., additional, Müller, J. S., additional, Lochmüller, H., additional, Grid, D., additional, Hamri, A., additional, Nouioua, S., additional, Tazir, M., additional, Mayer, M., additional, Desnuelle, C., additional, Barois, A., additional, Chabrol, B., additional, Pouget, J., additional, Koenig, J., additional, Gouider-Khouja, N., additional, Hentati, F., additional, Eymard, B., additional, and Hantaï, D., additional
- Published
- 2008
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