90 results on '"J. Vajsar"'
Search Results
2. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
- Author
-
V. Hodgkinson-Brechenmacher, M. Oskoui, C. Campbell, J. Lounsberry, B. Brais, A. MacKenzie, H. McMillan, J. Vajsar, L. Korngut, and C. CNDR Investigator Network
- Subjects
Neurology ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Genetics (clinical) - Published
- 2020
- Full Text
- View/download PDF
3. SMA - CLINICAL
- Author
-
F. Al Amrani, R. Amin, J. Chiang, J. Boyd, J. Vajsar, J. Dowling, and H. Gonorazky
- Subjects
Neurology ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Genetics (clinical) - Published
- 2020
- Full Text
- View/download PDF
4. Spectrin repeat-containing nuclear envelope protein 2: SYNE2 presenting as a congenital myopathy: A case report
- Author
-
A. Bamaga and J. Vajsar
- Subjects
Neurology ,Pediatrics, Perinatology and Child Health ,medicine ,Spectrin repeat ,Neurology (clinical) ,Biology ,medicine.disease ,Congenital myopathy ,Genetics (clinical) ,Cell biology ,Envelope (waves) - Published
- 2016
- Full Text
- View/download PDF
5. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
- Author
-
H. Hattig, C. Delli Pizzi, M. C. Addonizio, Michelle Davis, A. R. Giovagnoli, L. Florensa, M. Roth, J. de Kruijk, Francisco Lacruz, Ph. Dewailly, A. Toygar, C. Avendano, P.P. De Deyn, J. F. Hurtevent, F. Lomeila, T. W. Wong, Gordon T. Plant, M. Bud, H. J. Willison, DH Miller, D. W. Langdon, R. Cioni, J. Servan, A. Kaygisiz, E. Racadot, D. B. Schens, E. Picciola, L. Falip, C. Bouchard, J. Jotova, A. Jorge-Santamaria, P. Misra, A. Dufour, C. P. Panagopoulos, A. Venneri, B. Sredni, B. Angelard, M. Janelidze, M. Carreno, J. Obenberger, J. Pouget, H. W. Moser, R. Kaufmann, J. A. Molina, D. Linden, A. Martin Urda, E. Uvestad, A. Krone, J. P. Cochin, J. Mallecourt, A. Cambon-Thomsen, K. Violleau, P. Osschmann, A. M. Durocher, E. Bussaglia, D. M. Danielle, H. Efendi, C. Van Broeckhoven, K. G. Jordan, W. Rautenberg, C. Iniguez, J. M. Delgado, Graham Watson, M. Lawden, Gareth J. Barker, K. Stiasny, James T. Becker, G. Campanella, E. Peghi, A. Poli, A. Haddad, T. Yamawaki, Giacomo P. Comi, S. Sotgiu, B. Ersmark, A. Pomes, M. Ziegler, P. Ferrante, P. Ruppi, H. KuÇukoglu, R. Bouton, U. K. Rinne, P. Vieregge, M. Dary, P. Giunti, Peter J. Goadsby, S. Jung, E. Secor, A. Steinberg, N. Vila, M. A. Hernandez, M. Cursi, A. Enqelhardt, A. Engelhardt, J. Veitch, F. Di Silverio, F. Arnaud, B. Neundörfer, R. Brucher, Dominique Caparros-Lefebvre, B. Meyer, Marianne Dieterich, M. H. Snidaro, R. Gomez, R. Cerbo, M. Ragno, J. M. Vance, S. Nemni, A. Caliskan, F. Barros, I. Velcheva, D. Ceballos-Baumann, V. Barak, A. Avila, N. Antonova, F. Resche, S. Pappata, L. Varela, S. R. Silveira Santos, A. Cammarota, L. Naccache, Y. Nara, E. Tournier-Lasserves, R. Mobner, T. Chase, A. Ensenyat, J. Ulrich, G. Giegerich, M. Rother, M. Revilla, N. Nitschke, K. Honczarenko, E. Basart Tarrats, J. Blin, B. Jacob, J. Santamaria, S. Knezevic, J. L. Castillo, M. Antem, J. Colomer, O. Busse, Didier Hannequin, S. Carrier, J. B. Ruidavets, C. Rozman, J. Bogoussslavsky, J. Pascual Calvet, E. Monros, J. M. Polo, M. Zucconl, Javier Muruzabal, R. R. Allen, R. Rivolta, K. Haugaard, A. Nespolo, K. Hoang-Xuang, G. Bussone, T. Avramidis, E. Corsini, Christiana Franke, T. Vinogradova, H. Boot, K. Vestergaard, G. H. Jansen, N. Argentino, M. Raltzig, W. Linssen, Mark B. Pepys, P. Roblot, L. Lauritzen, E. Fainardi, D. Morin, T. X. Arbizu Urdiain, J. Wollenhaupt, S. Bostantjopoulou, G. Pavesi, A. D. Forman, Giovanni Fabbrini, D. Jean, J. J. Archelos, M. I. Blanchs, M. Del Gobbo, Anna Carla Turconi, Ch. Derouesné, Elio Scarpini, A. Visbeck, P. Castejon, J. P. Renou, F. Mounier-Vehier, G. Potagas, Ch. Duyckaerts, A. Filla, R. Schneider, G. Ronen, K. Nagata, J. P. Vedel, A. Henneberg, G. van Melle, C. Baratti, H. Knott, M. C. Prevett, A. Bes, B. Metin, Jos V. Reempts, L. Martorell, Mefkure Eraksoy, H. O. Handwerker, D. S. Younger, O. Oktem, D. Frongillo, C. Soriano-Soriano, L. Niehaus, F. Zipp, A. Tartaro, S Newman, R. H. Browne, P. Davous, R. Sanchez, M. Muros, M. E. Kornhuber, A. Lavarone, M. Mohr, M. R. Garcia, S. Russell, H. Kellar-Wood, M. R. Tola, B. Ostermeyer, Ch. Tzekov, K. Sartor, E. B. Ringelstein, P. P. Gazzaniga, Paul Krack, H. Fidaner, H. Rico, T. Dbaiss, F. Alameda, E. Torchiana, L. Rumbach, I. Charques, J. M. Bogaard, C. D. Frith, L. J. Rappelle, R. Brenner, A. Joutel, K. Fuxe, G. HÄcker, M. J. Blaser, J. Valls-SolÇ, G. Ulm, M. Alberdi, A. Bock, F. W. Bertelsmann, U. Wieshmann, J. Visa, J. R. Lupski, D. D'Amico, L. M. P. Ramos, A. A. Vanderbark, R. Horn, M. Warmuth, Dietmar Kühne, Mark S. Palmer, C. Ehrenheim, E. Canga, S. Viola, O. Scarpino, P. Naldi, R. Almeida, A. A. Raymond, J. Gamez, Stephan Arnold, A. DiGiovanni, J. Dalmau, C. C. Chari, H. F. Beer, J. C. Koetsier, J. Iriarte, E. Yunis, J. Casadevall, E. Le Guern, E. Stenager, S. R. Benbadis, J. M. Warter, F. Burklin, I. Theodorou, L. Johannesen, G. A. Graveland, X. Leclerc, I. Vecchio, L. Ozelius, G. Nicoletti, R. K. Gherardi, E. Esperet, M. L. Delodovici, F. Cattin, F. Paiau, Giorgio Sacilotto, C. A. J. Broere, D. Chavdarov, J. P. Willmer, C. H. Hawkes, Th. Naegele, E. Ellie, E. Dartigues, M. J. Guardiola, S. Hesse, Z. Levic, Marco Rovaris, P. Saugeir-Veber, B. A. Yaqub, H. F. Durwen, R. Larumbe, J. Ballabrina, M. Sendtner, J. Röther, M. Horstink, C. Kluglein, M.P. Montesi, H. Apaydin, J. Montoya, E. Waubant, Ch. Verellen-Dunoulin, A. Nicolai, J. Lopez-Delval, R. Lemon, G. Cantinho, E. Granieri, A. Zeviani, Wolfgang H. Oertel, U. Ficola, V. Di Piero, V. Fragola, K. Sabev, M. V. Guitera, I. Turki, F. Bolgert, P. Ingrand, J. M. Gobernado, L. M. E. Grimaldi, S. Baybas, B. Eymard, Y. Rolland, Y. Robitaille, Ta. Pampols, P. J. Koehler, A. Carroacedo, J. Vilchez, S. Di Vittorio, I. R. Rise, T. Nagy, M. Kuffner, E. Palazzini, A. Ott, J. Pruim, T. X. Arbizu, E. Manetti, C. Cervera, S. Felber, G. Gursoy, J. Scholz, G. A. Buscaino, M. S. Chen, A. Pascual, J. Hazan, J. U. Gajda, J. G. Cea, G. Bottini, G. Damalik, F. Le Doze, G. Bonaldi, J. M. Hew, C. Messina, A. M. Kennedy, J. M. Carney, N. M. F. Murray, M. Parent, M. Koepp, V. Dimova, D. De Leo, K. Jellinger, G. Salemi, S. Mientus, M. L. Hansen, F. Mazzucchelli, J. Vieth, M. Mauri, E. Bartels, L. Johannsen, C. Humphreys, J. Emile, D. N. Landon, E. Kansu, R. Sanchez-Pernaute, Rsj Frackowiak, M. Gonzalez Torres, L. Oller, C. Machedo, J. Kother, M. Billiard, H. Durak, T. Schindler, A. Frank, A. Uncini, A. Sbriccoli, C. Farinas, D. W. Paty, N. Fast, A. T. Zangaladze, A. Kerkhofs, J. M. Pino Garcia, I. De la Fuente, B. Marini, L. Gomez, I. Rubio, Alessandra Bardoni, C. Brodie, P. Acin, U. Sliwka, S. A. Hawkins, S. Tardieu, F. Vitullo, J. M. Pereira Monteino, R. Gagliardi, T. Jezewski, A. Cano, T. Lempert, F. Abad Alegria, G. Rotondo, D. Ince, C. Martinez Parra, Y. Huang, H. Luders, Y. Steinvil, F. G. A. Van Der Meche, R. Bianchi, A. Sanchez, T. Sevilla, J. M. Ketelslegers, A. Domzal-Stryga, M. Pandolfo, M. O. Josse, K. W. Neff, I. Blanco, G. W. Bruyn, O. W. Witte, J. L. Thibault, G. Andersen, J. Pariset, A. Marcone, R. J. M. Lane, A. Hofman, M. Verin, T. Matilla, P. Bedoucha, J. Roche, M. Lai, M. Collard, A. Ugarte, F. Gallecho, D. Silbersweig, C. Kennard, J. P. Azulay, T. W. Ho, P. L. I. Dellemijn, R. Girardello, F. Baas, B. Voss, F. Rozenberg, E. M. Brocker, V. Stanev, A. A. J. Soeterboek, A. Marra, A. Rey, E. Ertem, M. Sawradewicz-Rybak, J. De Keyser, P. Cavallari, F. Proust, Y. Chevalier, H. C. Hansen, D. Leys, C. A. Davie, K. Hoang-Xuan, C. Bairati, H. van Crevel, Thomas T. Warner, B. Bompais, A. Dobbeleir, T Campbell, C. Macko, C. J. M. Klijn, M. Dussallant, T. P. Berlit, W. Rozenbaum, M. J. van den Bent, W. A. Rocca, M. Muller, H. Hundemer, U. Zifko, M. Campera, F. Drislane, D. Ranoux, T. M. Kloss, Anil Kumar, I. Ruolt, C. Bargnani, B. Marescau, N. A. Losseff, S. Notermans, B. Kint, E. T. Burke, C. Aykut, J. Matias Guiu, P. Maquet, T. Drogendijk, M. Leone, K. von Ammon, M. Pepeliarska, C. Prados, L. DiGiamberardino, T. Logtenberg, G. Lenoir, I. Castaldo, Damhaut, M. Radionova, G. Sirabian, R. Navon, Giovanni Antonini, K. Al Moutaery, E. Chamas, R. Schönhuber, M. Giannini, B. Debilly, I. Labatut, H. Henon, J. A. Egido, M. Baudrimont, J. N. Lorenzo, J. E. C. Bromberg, R. Antonacci, J. J. Vilchez, T. Moulin, B. Rautenstrauss, Giovanni Meola, J. Noth, S Mammi, P. Laforet, F. Lopez, C. Gehring, S. Bort, G. Rancurel, D. Decamps, S. Kostadinova, Y. Shapira, B. Neundoerfer, D. Chavrot, M. Solimena, J. P. Salier, W. Deberdt, R. Hoff-Jörgensen, A. Messina, S. Meairs, G. Rosoklija, E. Nelis, I. Bertran, C. Ertekin, J. Lohmeyer, Mitermayer Galvao dos Reis, L. Calo, E. Maccagnano, A. P. Hays, J. Verlooy, M. G. Forno, T. Blanco, L. Bail, Gabriella Silvestri, J. Montero, F. Bertrand, R. T. Ghnassia, C. Besses, T. Sereghy, F. Shalit, G. Bogliun, S. Braghi, St. Baykouchev, C. Franke, A. Lasa, L. C. Archard, J. Kriebel, S. Shaunak, M. Nocito, Alexander Tsiskaridze, E. Manfredini, T. Seigal, David G. Gadian, M. Barlas, J. D. Degos, C. Seeber, J. Caemert, J. L. Mas, R. B. Pepinsky, M. G. D'Angelo, N. Baumann, S. Yorifuji, H. P. Endtz, M. A. Cassatella, R. A. C. Hughes, V. Golzi, A. Bittencourt, A. Ferreira, M. Sanson, C. Alper, M. Vermeulen, M. A. A. van Walderveen, E. Alexiou, C. H. Lucas, M. Fiorelli, Y. N. Debbink, R. Gil, S. Congia, T. Banerjee, J. M. Bouchard, A. N. Pinto, A. Ceballos-Baumann, G. Grollier, P. I. M. Schmitz, M. D. Catata, N. Lahat, N. S. Rao, P. Papathanasopoulos, J. Valls-Solé, D. Claus, G. Schroter, A. Castro, C. Videbaek, R. Martinez Dreke, A. D. Platts, M. Hermesl, A. C. PeÇanha-Martins, M. Cardoso Silva, P. Masnou, M. J. A. Tanner, Ch. Confavreux, B. Mishu, H. Rasmussen, L. Valenciano, Carlo Pozzilli, S. W. Li, V. Salzman, Y. Vashtang, Massimo Franceschi, M. Severo, G. Deuschl, S. Setien, G. Mariani, A. Protti, J. Castillo, M. J. B. Taphoorn, M. Frontali, I. Milonas, D. Decoq, J. A. Navarro, S. Castellvi-Pel, C. Ertikin, M. Urtasun, Y. Lajat, B. E. Kendall, E. Verdu, B. Gueguen, E. Boisen, R. Couderc, A Danek, JM Stevens, F. Nicoli, L. Feltri, M. L. Vazquez-Andre, J. A. Morgan-Hughes, L. D'Angelo, F. Y. Liew, L. F. Pascual, J. Patrignani Ochoa, Vittorio Martinelli, J. Cophignon, L. Zhang, S. Martin, J. F. Meder, H. C. Buschmann, L. Bertin, J. van Gijn, A. Barreiro, A. Cools, C. Leon, A. Berod, E. A. Anllo, E. Zanette, L. Petrov, R. Barona, B. Gallicchio, P. J. Cozzone, N. Diederich, G. Cancel, L. Schelosky, P. Orizaola, K. Yulug, S. Ozer, Valeria A. Sansone, B. Guiraud-Chaumeil, K. Voigt, P. Labauge, M. Eoli, J. Zhu, J. Aguirre, M. Ferrarini, B. Zyluk, E. Planas, A. Cadilha, C. Tortorella, H. Bismuth, C. E. Counsell, A. Laun, A. Ferlini, Rio J. Montalban, N. Biary, L. Becker, M. Fardeau, M. Poloni, V. M. S. de Bruin, C. Fornada, J. Barros, E. Ganzmann, E. Touze, D. Wallach, J. Peila, H. Fujimura, M. T. Iba-Zizen, G. Macchi, C. Villoslada, R. Gouider, Ph. Rondepierre, P. Grummich, P. Chiodi, C. Conte, M. Michels, P. Annunziata, G. Semana, C. Sommer, J. Vajsar, D. Zekin, J. Kulisevsky, David G. Munoz, B. Jacotot, M. Magoni, A. Luxen, T. Garcia-Silva, S. Di Cesare, Christophe Tzourio, M. Gomori, I. Picomell, L. Santoro, F. Villa, Giovanni Pennisi, T. Ribalta, J. M. Molto, L. Marzorati, P. Loiseau, F. Gemignani, A. Gironell, J. Wissel, A. Prusinski, F. Cailloux, P. Villanueva-Hemandez, P. Cozzone, T. Del Ser, J. Sans-Sabrafen, M. Zappia, P. W. A. Willems, G. Tchernia, D. Gardeur, R. Bauer, F. Palomo, H. Metz, S. Lamoureux, C. Chastang, I. Reinhard, A. Goldfarb, S. Harder, Jordi Río, C. Ozkara, E. Tekinsoy, P. Vontobell, J. De Recondo, M. Rabasa, L. Lacomblez, F. Boon, Dgt Thomas, V. Palma, Renato Mantegazza, A. Dervis, M. Nueckel, B. YalÇinerner, I. Duran, G. Dalla Volta, A. Zubimendi, J. Pinheiro, A. Marbini, Xavier Montalban, H. Wekerle, X. Pereira Monteino, F. Crespo, F. Koskas, N. Battistini, C. Ruiz, H. Offner, J. de Pommery, P. Kanovsky, J. Y. Barnett, J. Pardo, G. Tomei, R. Rene, H. M. Lokhorst, P. Thajeb, H. Bilgin, D. McGehee, R. Fahsold, L. Morgante, Katie Sidle, C. Delwaide, M. N. Diaye, P. H. Rice, A. Creange, C. Sabev, K. Stephan, K. WeilBenborn, G. Magnani, L. Grymonprez, F. Cardellach, M. Kaps, N. G. Meco, F. Vega, V. Bonifati, A. Desomer, M. Baldy-Moulinier, G. Kvale, F. J. Authier, B. Yegen, T. Ho, J. M. Rozet, E. A. Cabanis, L. Bruce, L. Ambrosoli, M. A. Petrella, M. Hernandez, P. Timmings, H. B. van der Worp, F. Mahieux, A. Urbano-Marquez, D. A. Krendel, A. A. Garcia, R. Divari, R. Michalowicz, M. R. Piedmonte, M. Bondavalli, M. Zanca, P. F. Ippel, Onofre Combarros, B. Tavitian, E. Hirsch, I. Anastasopoulos, A. Roses, A. Köhler, P. Vienna, V. Timmerman, P. Sergi, F. Cornelio, A. Di Pasquale, R. Verleger, S. Castellvirel, J. Proano, B. van Moll, F. Rubio, W. Hacke, I. Lavenu, L. Zetta, M. W. Tas, N. Bittmann, M. Bonamini, O. R. Hommes, V. Dousset, N. Afsar, S. Belal, R. R. Myers, J. Goes, Giuseppe Vita, E. Clementi, V. G. Karepov, M. Jueptner, A Vincent, P. Emmrich, Th. Heb, A. Caballo, J. Gallego, T. Mokrusch, C. Perla, L. Gebuhrer, O. Titlbach, Alessandro Prelle, A. Czlonkowska, M. Russo, D. Hadjiev, T. S. Chkhikvishvili, M. Oehlschlager, G. Becker, I. Günther, E. N. Stenager, J. Garcia Agundez, J. Casademont, J. Batlle, S. Podobnik-Sarkanji, C. Alonso-Villaverde, B. Delaguillaume, B. Genc, B. Mazoyer, A. Rodriguez-Al-barino, Ch. Hilger, B. Ferrero, R. Price, W. Grisold, L. Fuhry, D. Oulbani, D. Ewing, A. Petkov, W. Walther, A. Gokyigit, John Newsom-Davis, J. Tayot, D. Seliak, G. Pelliccioni, D. Campagne, K. Kessler, F. Boureau, D. Perani, J. P. N'Guyen, N. Tchalucova, B. A. Antin-Ozerkis, C. Lacroix, B. D. Aronovich, I. H. Jenkins, E. A. dos Reis, M. Hortells, H. M. Meinck, H. Ch. Buschmann, S. C. J. M. Jacobs, T. Wetter, P. Creissard, N. Martinez, J. Weidenfeldl, H. J. Sturenburg, G. Damlacik, V. Gracia, J. C. Turpin, A. Pou-Serradell, J. P. Vincent, T. Gagoshidze, U. Ozkutlu, M. McLeod, K. Siegfried, I. Tchaoussoglou, J. Hildebrand, S. Kowalska, M. C. Picot, G. Galardin, L. Crevits, F. Andreetta, S. Larumbe-Lobalde, G. de la Sierra, J. C. Alvarez-Cermeno, R. J. Seitz, P. L. Oey, L. Ptacek, A. M. J. Paans, A. Wirrwar, A. Schmied, J. Uilchez, H. Tounsi, D. Hipola, V. Avoledo, Y. Hirata, P. Vermersch, T. M. Aisonobe, J. Valls-SoIè, H. Staunton, J. Dichgans, R. Karabudak, I. Dones, G. Porta, E. Janssens, Maria Martinez, J. M. Fernandez-Real, R. Villagra, Y. Yoshino, C. Kabus, K. Schimrigk, I. Girard-Buttaz, F. Piccoli, F. Aichner, P. Zuchegna, S. M. Al Deeb, F. Bono, N. Busquets, A. Jobert, Patrizia Ciscato, M. Martin, L. Polman, S. Darbra, V. Le Cam-Duchez, F. Baldissera, B. Baykan-Kurt, D. Guez, M. Bratoeva, H. Matsui, M. Mila, H. Perron, L. Bjorge, G. Husby, Steven T. DeKosky, D. R. Cornblath, J. M. Gabriel, J. J. Poza, Y. Wu, A. Toscano, R. P. Kleyweg, J. Kuhnen, S. O. Confort-Gouny, A. Barcelo, A. M. Conti, C. Fiol, C. Steichen-Wiehn, J. Rodes, M. Cavenaile, C. Vedeler, M. Drlicek, C. Argentino, M. L. Peris, A. Cervello, A. Z. GinaÏ, S. Yancheva, D. Passingham, S. Aoba, D. L. Lopez, T. Rechlin, K. Sonka, L. Grazzi, V. Folnegovic-Smalc, Maurizio Moggio, S. Rivaud, F. G. I. Jennekens, C. H. Hartard, H. Meierkord, G. Stocklin, M. D. Catala, W. C. McKay, E. Salmon, C. Navarro, I. Pastor, L. Canafoglia, M. De Braekeleer, P. K. Thomas, C. Mocellini, C. Pierre-Jerome, M. C. Dalakas, P. Pollak, M. Levivier, Niall Quinn, G. E. Rivolta, Z. Tunca, H. Zeumer, J. Garcia Tena, St. Guily, P. Gaudray, Johannes Kornhuber, V. Petrunjashev, R. Montesanti, R. J. Abbott, H. Petit, G. Kiteva-Trencevska, F. Carletto, C. Ramo, I. M. Pino, P. Beau, G. F. Mennuni, F. Moschian, F. Meneghini, B. Zdziarska, B. Fontaine, C. Stephens, G. Meco, K. Reiners, G. Badlan, M. Sessa, I. Degaey, S. M. Hassan, C. Albani, F. Caroeller, M. Schroeder, G. Savettieri, A. Novelletto, R. Kurita, P. Oschmann, I. Plaza, M. Oliveres, Simone Spuler, A. Molins, M. Schwab, J. R. Kalden, C. P. Gennaula, Y. Baklan, O. Picard, J. M. Léger, B. Mokri, E. Ghidoni, M. Jacob, D. Deplanque, W. JÄnisch, C. De Andres, P. De Deyn, G. Guomundsson, B. Herron, J. Barado, J. L. Gastaut, Guglielmo Scarlato, F. Poron, Nicola Jones, H. Teisserenc, C. P. Hawkins, A. J. Steck, H. C. Chandler, S. Blanc, J. H. Faiss, Jm. Soler Insa, I. Sarova-Ponchas, M. Malberin, A. Sackmann, G. De Vuono, K. Kaiser-Rub, K. Badhia, E. Szwabowska-Orzeszko, S. Ramm, C. Jodice, G. Franck, J. Marta-Moreno, R. Sciolla, C. Fritz, A. Attaccalite, F. Weber, E. Neuman, M. Cannata, A. Rodriguez, I. Nachainkin, R. Raffaele, T. S. Yu, N. Losseff, E. Fabrizio, C. Khati, M. Keipes, M. P. Ortega, M. Ramos-Alvarez, E. Brambilla, A. Tarasov, K. H. Wollinsky, O. B. Paulson, F. Boller, G. Bozzato, H. Wagnur, R. Canton, D. Testa, E. Kutluaye, M. Calopa, D. Smadja, G. Malatesta, F. Baggi, A. Stracciari, G. Daral, G. Avanzini, J. Perret, J. Arenas, P. Boon, I. Gomes, A. Vortmeyer, P. Cesaro, S. Venz, E. Bernd Ringelstein, N. Milani, D. Laplane, P. Seibel, E. Tournier-Lasserve, Alexis Brice, L. Motti, E. Wascher, R. J. Abbot, F. Miralles, A. Turon, P. De Camilli, G. Luz, G. C. Guazzi, S. Tekin, F. Lesoin, T. Kryst, N. Lannoy, F. Gerstenbrand, S. Ballivet, H. A. M. van Diemen, J. Lopez-ArLandis, P. Bell, A. Silvani, M. A. Garcia, S. Vorstrup, D. Langdon, S. Ueno, B. Sander, V. Ozurk, C. Gurses, P. Berlit, J. M. Martinez-Lage, M. Treacy, S. O. Rodiek, S. Cherninkova, J. Grimaud, P. Marozzi, K. Hasert, S. Goldman, S. H. Ingwersen, A. Taghavy, T. Roig, R. Harper, I. Sarova-Pinchas, Anthony H.V. Schapira, R. Lebtahi, A. Vidaller, B. Stankov, D. Link, J. p. Malin, V. Petrova, Ludwig Kappos, J. L. Ochoa, T. Torbergsen, M. Carpo, M. Donato, Simon Shorvon, J. Mieszkowski, J. Perez-Serra, Raymond Voltz, G. Comi, S. Rafique, A. Perez-Sempere, N. Khalfallah, S. Bailleul, M. Borgers, S. Banfi, S. Mossman, A. Laihinen, G. Filippini, R. A. Grunewald, E. Stern, H. D. Herrmann, A. G. Droogan, P. Xue, A. Grilo, L. La Mantia, J. H. J. Wokke, S. Pizzul, Kie Kian Ang, S. Rapaport, W. Szaplyko, B. Romero, P. Brunet, A. Albanese, C. Davie, V. Crespi, F. Birklein, H. Sharif, L. Jose, D. Auer, N. Heye, Martin N. Rossor, C. E. Henderson, M. J. Koepp, J. Rubio, P. L. Baron, S. Mahal, Juha O. Rinne, J. I. Emparanza, S. E. C. Davies, Frederik Barkhof, M. Riva, R. E. Brenner, B. A. Pope, Lemaire, E. Dupont, D. Ulbricht, G. C. Pastorino, R. Retska, E. Chroni, A. Danielli, V. Malashkhia, T. Canet, J. C. Garcia-Valdecasas, J. Serena, R. A. Pfeiffer, B. Wirk, B. Muzzetto, V. Caruso, M. L. Giros, A. Ming Wang, E. L. E. Guern, F. Bille-Turg, Y. Satoh, C. H. Franke, M. Ait-Kaci-Ahmed, D. Genis, T. Pasierski, D. Riva, M. Panisset, A. Chamorro, P.A. van Doorn, S. Schellong, H. Hamer, F. Durif, P. Krauseneck, Y. Bahou, B. A. Pickut, M. Rijnites, H. Nyland, G. Jager, L. L. Serra, A. Rohl, X. P. Li, O. Arena, Hubert Kwieciński, N. Milpied, M. C. Bourdel, S. Assami, L. Law, J. Moszkowski, J. W. Thorpe, M. Aguennouz, R. Martin, D. Hoffmann, P. Morris, A. Destée, D. J. Charron, U. Senin, A. P. SempereE, M. Dreyfus, A. L. Benabid, M. Gomez, S. Heindle, M. C. Morel-Kopp, M. Hennerici, A. I. Santos, M. Djannelidze, N. Artemis, John Collinge, T. Rundek, M. Y. Voloshin, P. de Castro, Th. Wiethege, D. A. S. Compston, D. Schiffer, A. J. Hughes, D. Jimenez, V. Parlato, A. Papadimitriou, J. M. Gergaud, R. Sterzi, J. Arpa, G. de Pinieux, F. Buggle, P. Gimbergues, H. Ruottinen, R. Marzella, W. Koehler, Y. Yurekli, A. Haase, Z. Privorkin, G. K. Harvey, B. Chave, A. J. Grau, E. M. Stadlan, J. List, C. Zorzi, B.W. van Oosten, P. Derkinderen, B. Casati, J. M. Maloteaux, K. Vahedi, W. L. J. van Putten, J. C. Sabourin, D. Lorenzetti, Plenevaux, J. W. B. Moll, A. Morento Fernandez, M. Lema, M. A. Horsfleld, P. De Jongh, S. Gikova, K. Kutluk, Monique M.B. Breteler, P. Saddier, A. Berbinschi, R. E. Cull, P. Echaniz, H. Kober, C. Minault, V. Kramer, A. L. Edal, S. Passero, T. Eckardt, K. E. Davies, A. Salmaggi, R. Kaiser, A. A. Grasso, Claudio Mariani, G. Egersbach, Hakan Gurvit, O. Dereeper, C. Vital, L. Wrabetz, A. Vecino, M. Aguilar, G. Bielicki, H. Becher, J. Castro, S. Iotti, M. G. Natali-Sora, E. Berta, S. Carlomagno, L. Ayuso-Peralta, P. H. Rondepierre, I. Bonaventura, B. V. Deuren, N. Van Blercom, M. Sciaky, J. Faber, M. Alberoni, M. Nieto, F. Sellal, C. Stelmasiak, M. Takao, J. Bradley, D. Zegers de Beyl, H. Porsche, G. Goi, H. Pongratz, F. Chapon, S. Happe, Robin S. Howard, B. Weder, S. Vlaski-Jekic, J. M. Ferro, R. Nemni, A. Daif, Herbert Budka, W. Van Paesschen, B. Waldecker, F. Carceller, J. Lacau, F. Soga, J. Peres Serra, E. Timmerman, A. M. vd Vliet, J. L. Emparanza, N. Vanacore, A. Pizzuti, N. Marti, A. Davalos, N. Ayraud, U. Zettl, J. Vivancos, Z. Katsarou, H. M. Mehdorn, G. Geraud, M. Merlini, M. Schröter, A. Ebner, M. Lanteri-Minet, R. Soler, G. P. Anzola, S. L. Hauser, L. Cahalon, S. DiDonato, R. Cantello, M. Marchau, J. Gioanni, F. Heidenreich, J. Manuel Martinez Lage, P. Descoins, F. Woimant, J. F. Campo, M. H. Verdier-taillefer, M. S. F. Barkhof, G. J. Kemp, A. O. Ceballos-Baumann, J. Berciano, M. Guidi, Tarek A. Yousry, B. Chandra, A. Rapoport, P. Canhao, A. Spitzer, T. Maeda, J. M. Pereira Monteiro, V. Paquis, Th. Mokrusch, F. J. Arrieta, I. Sangla, F. Canizares-Liebana, Lang Chr, André Delacourte, V. Fetoni, P. Kovachev, D. Kidd, L. Ferini-Strambi, E. Donati, E. Idman, A. Chio, C. Queiros, D. Michaelis, S. Boyacigil, A. Rodrigo, S. M. Yelamos, B. Chassande, P. Louwen, C. Tranchant, E. Ciafalon, A. Lombardo, A. Twijnstra, A. L. Fernandez, H. Kott, A. Cannas, N. Zsurger, T. Zileli, E. Metin, P. C. Bain, G. Fromont, B. Tedesi, A. Liberani, X. Navarro, M. C. Rowbotham, V. Hachinski, F. Cavalcanti, W. Rostene, R. M. Gardiner, F. Gonzalez, B. Köster, E. A. van der Veen, J. P. Lefaucheur, C. Marescaux, D. Boucquey, E. Parati, S. Yamaguchi, A. S. Orb, R. Grant, G. D. P. Smith, P. Goethals, M. Haguenau, G. Georgiev, I. N. van Schaik, Guy A. Rouleau, E. Iceman, G. Fayet, M. G. Kaplitt, C. Baracchini, H. Magnusson, G. Meneghetti, N. Malichard, M. L. Subira, D. Mancia, A. Berenguer, D. Navarrete Palau, H. Franssen, G. Kiziltan, M. P. Lopez, J. Montalt, S. Norby, R. Piedra Crespo, T. L. Rothstein, R. Falip, B. YalÇiner, F. Chedru, I. W. Thorpe, F. W. Heatley, D. S. C. Ochoa, C. Labaune, M. Devoti, O. Lider, Jakob Korf, N. Suzuki, E. A. Maguire, A. Moulignier, J. C. van Swieten, F. Monaco, J. Cartron, A. Steck, B. Uludag, M. Alexandra, H. Reichmann, T. Rossi, L. E. Claveria, A. M. Crouzel, M. A. Mena, J. Gasnault, J. W. Kowalski, S. I. Mellgren, V. Feigin, L. Demisch, J. Montalban, J. Renato, J. Mathieu, N. Goebels, L. Bava, K. Kunre, M. Pulik, S. Di Donato, C. Tzekov, H. Veldman, S. Giménez-Roldan, B. Lechevalier, L. Redondo, B. Pillon, M. Gugenheim, E. Roullet, J. M. Valdueza, C. Gori, H. J. Friedrich, L. de Saint Martin, F. Block, E. Basart, M. Heilmann, B. Becq Giraudon, C. Rodolico, G. Stevanin, Elizabeth K. Warrington, A. T. M. Willemsen, K. Kunze, C. Ben Hamida, M. Alam, J. R. ùther, A. Battistel, G. Della Marca, Richard S. J. Frackowiak, F. Palau, T. Brandt, Chicoutimi, L. Bove, L. Callea, A. Jaspert, T. Klopstock, K. Fassbender, Alan J. Thomas, A. Ferbert, V. Nunes, Douglas Russell, P. Garancini, C. Sanz-Sebastian, O. Santiag, G. Dhaenens, G. Seidel, I. Savic, A. Florea-Strat, M. Rousseaux, N. Catala, E. O'Sullivan, M. J. Manifacier, H. Kurtel, T. Mendel, P. Chariot, M. Salas, D. Brenton, R. Lopez, J. Thorpe, Jimmy D. Bell, E. Hofmann, E. Botia, J. Pacquereau, A. Struppler, C. d'Aniello, D. Conway, A. Garcia-Merino, K. Toyooka, S. Hodgkinson, E. Ciusani, Stefano Bastianello, A. Andrade Filho, M. Zaffaroni, G. Pleiffer, F. Coria, A. Schwartz, D. Baltadjiev, I. Rother, K. Joussen, J. Touchon, K. Kutlul, P. Praamstra, H. Sirin, S. Richard, C. Mariottu, L. Frattola, S. T. Dekesky, G. Wieneke, M. Chatel, O. Godefroy, C. Desnuelle, S. OzckmekÇi, C. H. Zielinski, P. van Deventer, S. Jozwiak, I. Galan, J. M. Grau, V. Vieira, T. A. Treves, S. Ertan, A. Pujol, S. Blecic, E. M. Zanette, F. Ceriani, W. Camu, L. Aquilone, A. Benomar, F. Greco, A. Pascual-Leone Pascual, T. Yanagihara, F. A. Delfino, R. Damels, S. Merkelbach, J. Beltran, A. Barrientos, S. Brugge, B. Hildebrandt-Müller, M. H. Nascimento, M. Rocchi, F. Cervantes, E. Castelli, R. M. Pressler, S. Yeil, A. del Olmo, J. L. Herranz, L. J. Kappelle, Y. Demir, N. Inoue, R. Hershkoviz, A. Luengo, S. Bien, F. Viallet, P. Malaspina, G. De Michele, G. Nolfe, P. Adeleine, T. Liehr, G. Fenelon, H. Masson, Kailash P. Bhatia, W. Haberbosch, S. Mederer, R. S. J. Frackowiak, Tanya Stojkovic, S. Previtali, A. E. Harding, W. Kohler, N. P. Quin, T. R. Marra, J. P. Moisan, A. Melchor, M. L. Viguera, Mary G. Sweeney, G. L. Romani, J. Hezel, R. A. Dierckx, R. Torta, A. Kratzer, T. Pauwels, D. Decoo, Adriana Campi, Neil Kitchen, J. Haas, U. Neubauer, J. J. Merland, A. Yagiz, A. Antonuzzo, A. Zangaladze, J. Parra, Pablo Martinez-Lage, D. J. Brooks, S. Hauser, R. Di Pierri, M. Campero, R. Caldarelli-Stefano, A. M. Colangelo, J. L. Pozo, C. Estol, F. Picard, A. Palmieri, J. Massons, JT Phillips, G. B. Groozman, R. Pentore, L. M. Ossege, C. Bayon, Hans-Peter Hartung, R. Konyalioglu, R. Lampis, D. Ancri, M. Miletta, F. J. Claramonte, W. Retz, F. Hentges, JM Cooper, M. Cordes, M. Limburg, M. Brock, G. R. Coulton, K. Helmke, Rosa Larumbe, A. Ohly, F. Landgraf, A. M. Drewes, Claudia Trenkwalder, M. Keidel, T. Segura, C. Scholz, J. HÄgele, D. Baudoin-Martin, P. Manganelli, J. Valdueza, M. Farinotti, U. Zwiener, M. P. Schiavalla, Y. P. Young, O. Barlas, G. Hertel, E. H. Weiss, M. Eiselt, A. Lossos, M. Bartoli, L. Krolicki, W. Villafana, W. Peterson, Nicoletta Meucci, C. Agbo, R. Luksch, F. Fiacco, G. Ponsot, M. Lopez, Howard L. Weiner, M. D. Alonso, K. Petry, Sanjay M. Sisodiya, P. Giustini, S. Tyrdal, R. Poupon, J. Blanke, P. Oubary, A. A. Kruize, H. Trabucchi, R. R. C. Stewart, H. Grehl, B. M. Kulig, V. Vinhas, D. Spagnoli, B. Mahe, J. Tatay, C. Hess, M. D. Albadalejo, G. Birbamer, M. Alonso, F. Valldeoriola, J. Figols, I. Wirguin, E. Diez Tejedor, C. S. Weiller, L.H. van den Berg, P. Barreiro, L. Pianese, S. Cocozza, R. Kohnen, E. Redolfi, F. Faralli, G. Gosztonyl, A. J. Gur, A. Keyser, V. Fichter-Gagnepain, B. Wildemann, E. Omodeo-Zorini, Gregoire, J. Schopohl, F. Fraschini, G. Wunderlich, B. Jakubowska, F. P. Serra, N. B. Jensen, O. Delattre, C. Leno, A. Dario, P. Grafe, F. Graus, M. C. Vigliani, J. L. Dobato, Philip N. Hawkins, R. Marés, A. Rimola, N. Meussi, G. Aimard, W. Hospers, A. M. Robertson, C. Kaplan, W. Lamadé, Karen E. Morrison, Amadio, E. Kieffer, F. Dromer, P. Bernasconi, M. Repeto, Davide Pareyson, Jeremy Rees, A. Guarneri, P. Odin, P. Bouche, L. Nogueira, J. Munoz, L. Leocani, M. J. Arcusa, R. S. J. Frackowiack, John S. Duncan, D. Karacostas, D. Edwin, I. Costa, M. Menetrey, P. Grieb, A. M. Salvan, S. Cunha, P. Merel, P. Pfeiffer, A. Astier, F. Federico, A. Mrabet, M. G. Buzzi, L. Knudsen, I. F. Pye, L. Falqui, C. R. Hornig, C. E. Shaw, C. Brigel, T. C. Britton, R. Codoceo, T. Pampols, Vincent J. Cunningham, N. Archidiacono, G. Chazot, J. B. Posner, L. L. O. Befalo, M. Monclus, C. Cabezas, H. Moser, H. Stodal, J. Ley-Pozo, L. Brusa, R. Di Mascio, P. Giannini, J. Fernandez, R. Santiago Luis, J. Garcia Tigera, J. Wilmink, P. Pignatelli, M. El Amrani, V. Lucivero, M. Baiget, R. Lodi, P. H. Cabre, L. Grande, A. Korczyn, R. Fahlbusch, C. Milanese, W. Huber, J. Susseve, H. C. Nahser, K. Mondrup, X. O. Breakefield, J. Sarria, T. H. Vogt, A. Alessandri, M. Daffertshofer, I. Nelson, M. L. Monticelli, O. Dammann, G. G. Farnarier, G. Felisari, A. Quattrini, A. Boiardi, P. Mazetti, H. Liu, J. Duarte, M. E. Gaunt, H. Strik, N. Yulug, A. Urman, J. Posner, Aida Suarez Gonzalez, Ma. L. Giros, Z. Matkovic, D. Kompf, A. D. Korczyn, A. Steinbrecher, R. Wenzel, M. C. de Rijk, R. Doronzo, J. Julien, O. Hasegawa, M. Kramer, V. Collado-Scidel, M. Alonso de Lecinana, L. Dell'Arciprete, S. Rapuzzi, S. Bahar, H. Willison, M. T. Ramacci, J.J. Martin, Lopez-Bresnahan, C. Malapani, R. Haaxma, T. Rosenberg, J. Patrignani, R. Vichi, Martin R. Farlow, J. Roquer, L. Krols, M. Pimenta, C. Bucka, U. Klose, M. Roberts, J. Salas-Puig, R. Ghnassia, A. Mercuri, C. Maltempo, I. Tournev, P. Homeyer, D. Caparros-Lefevre, E. P. O. Sullivan, T. Vashadze, Ph. Lyrer, A. Deltoro, H. Kondo, M. Steinling, A. Graham, G. C. Miescher, A. Pace, D. Branca, G. Avello, H. H. Kornhuber, D. Fernandes, H. Friedrich, R. Chorao, H. O. Lüders, R. T. Bax, J. A. Macias, N. Yilmaz, J. Veroust, M. Miller, S. Confort-Gouny, J. L. Sastre, D. Servello, G. Boysen, S. Koeppen, V. Planté-Bordeneuve, H. Albrecht, R. H. M. King, G. Orkodashili, R. Doornbos, H. Toyooka, V. Larrue, M. Sabatelli, K. Williams, M. Stevens, V. Maria, M. Comabella, C. Lammers, R. M. L. Poublon, E. Tizzano, P. Pazzaglia, F. Zoeller, M. B. Delisle, J. P. Goument, J. M. Minderhoud, A. Sghirlanzoni, V. Meininger, M. Al Deeb, C. Bertelt, A. Cagni, A. Algra, F. Morales, K. A. Flugel, M. Maidani, M. Noya, Z. Seidl, U. Roelcke, D. Cannata, E. Katiane EmbiruÇu, E. M. Wicklein, K. Willmes, L. Hanoglu, J. F. Pellissier, Yves Agid, E. Cuadrado, S. Brock, D. Maimone, Z. G. Nadareishvili, E. Matta, S. Hilmi, V. Assuerus, F. Lomena, R. Springer, F. Cabrera-Valdivia, Oscar L. Lopez, M. Casazza, F. Vivancos, Ralf Gold, T. Crawford, B. Moulard, M. Poisson, W. l. McDonald, D. E. Grobbe, Alan Connelly, H. Ozcan, S. Abeta, H. Severo Ochoa, A. C. van Loenen, E. Libson, M. J. Marti, B. George, C. Ferrarese, B. Jacobs, L. Divano, T. Ben-Hur, A. L. Bootsma, V. Martinez, A. Conti, R. P. Maguire, B. Schmidt, D. M. Campos, D. A. Guzman, E. Meary, C. Richart, P. B. Christensen, T. Schroeder, Massimo Zeviani, K. Jensen, R. Aliaga, S. Seitz-Dertinger, J. W. Griffin, C. Fryze, H. Baas, S. Braun, A. M. Porrini, B. Yemez, M. J. Sedano, C. Creisson, A. Del Santo, A. Mainz, R. Kay, S. Livraghi, R. de Waal, D. Macgregor, H. Hefter, R. Garghentino, U. Ruotsalainen, M. Matsumoto, M. G. Beaudry, P. M. Morrison, J. C. Petit, C. Walon, Ph. Chemouilli, F. Henderson, R. Massa, A. Cruz Martinez, U. Liska, F. Hecht, Ernst Holler, V. S. de Bruin, B. B. Sheitman, S. M. Bentzen, C. Bayindir, F. Pallesta, P. E. Roland, J. Parrilla, P. Zunker, L. F. Burchinskaya, G. Mellino, S. Ben Ayed, D. Bonneau, P. Nowacki, M. Goncalves, P. Riederer, N. Mavroudakis, J. Togores, L. Rozewicz, S. Robeck, Y. Perez Gilabert, L. Rampello, A. Rogopoulos, S. Martinez, F. Schildermans, C. Radder, P. B. Hedlund, J. Cambier, M. Aabed, G. D. Jackson, P. Gasparini, P. Santacruz, J. Vandevivere, H. Dural, A. Mantel, W. Dorndorf, N. Ediboglu, A. Lofgren, J. Bogousslavsky, P. Thierauf, L. Goullard, R. Maserati, B. Moering, M. Ryba, J. Serra, G. G. Govan, A. Pascual-Leone, S. Schaeffer, M. R. Rosenfeld, A. P. Correia, K. Ray Chaudhuri, L. Campbell, R. Spreafico, B. Genetet, A. M. Tantot, R. A. G. Hughes, J. A. Vidal, G. Erkol, J. Y. Delattre, B. Yaqub, B. K. Hecht, E. Mayayo, Ph. Scheltens, J. Corral, M. Calaf, L. Henderson, C. Y. Li, U. Bogdahn, R. Sanchez-Roy, M. Navasa, J. Ballabriga, G. Broggi, T. Gudeva, C. Rose, J. Vion-Dury, J. A. Gastaut, J. Pniewski, Nicola J. Robertson, G. Kohncke, M. Billot, S. Gok, E. Castellli, F. Denktas, P. Bazzi, F. Spinelli, I. F. Moseley, C. D. Mardsen, B. Barbiroli, O. M. Koriech, A. Miller, Hiroaki Yoshikawa, F. X. Borruat, J. Zielasek, P. Le Coz, J. Pascual, A. Drouet, L. T. Giron, F. Schondube, R. Midgard, M. Alizadeh, M. Liguori, Lionel Ginsberg, L. Harms, C. Tilgner, G. Tognoni, F. Molteni, Mar Tintoré, M. Psylla, C. Goulon-Goeau, M. V. Aguilar, Massimo Filippi, K. H. Mauritz, Thomas V. Fernandez, C. Basset, S. Rossi, P. Meneses, B. Jandolo, T. Locatelli, D. Shechtcr, C. Magnani, R. Ferri, Bruno Dubois, J. M. Warier, S. Berges, F. Idiman, M. Schabet, R. R. Diehl, P. D'aurelio, M. Musior, Reinhard Hohlfeld, P. Smeyers, M. Olivé, A. Riva, C. A. Broere, N. Egund, S. Franceschetti, V. Bonavita, Nicola Canal, E. Timmermans, M. Ruiz, S. Barrandon, G. Vasilaski, B. Deweer, L. Galiano, S. F. T. M. de Bruijn, L. Masana, A. Goossens, B. Heye, K. Lauer, Heinz Gregor Wieser, Stephen R. Williams, B. Garavaglia, A. P. Sempere, F. Grigoletto, P. Poindron, R. Lopez-Pajares, I. Leite, T. A. McNell, C. Caucheteur, J. M. Giron, A. D. Collins, P. Freger, J. Sanhez Del Rio, D. A. Harn, K. Lindner, S. S. Scherer, G. Serve, M. Juncadella, X. Estivill, R. Binkhorst, M. Anderson, B. Tekinsoy, C. Sagan, T. Anastopoulos, G. Japaridze, S. Guillou, F. Erminio, Jon Sussman, P. G. Oomes, D. S. Rust, S. Mascheroni, O. Berger, M. Peresson, K. V. Toyka, T. W. Polder, M. Huberman, B. Arpaci, H. Ramtami, I. Martinez, Ph. Violon, P. P. Gazzaniga Pozzill, R. Ruda, P. Auzou, J. Parker, S. P. Morrissey, Jiahong Zhu, F. Rotondi, P. Baron, W. Schmid, P. Doneda, M. Spadaro, M. C. Nargeot, I. Banchs, J.S.P. van den Berg, R. Ferrai, M. Robotti, M. Fredj, Pedro M. Rodríguez Cruz, B. Erne, D. G. Piepgras, M. C. Arne-Bes, J. Escudero, C. Goetz, A. R. Naylor, M. Hallett, O. Abramsky, E. Bonifacio, L. E. Larsson, R. Pellikka, P. Valalentino, D. Guidetti, B. Buchwald, C. H. Lücking, D. Gauvreau, F. Pfaff, A. Ben Younes-Chennoufi, R. Kiefer, R. Massot, K. A. Hossmann, L. Werdelin, P. J. Baxter, U. Ziflo, S. Allaria, C. D. Marsden, M. Cabaret, S. P. Mueller, E. Calabrese, R. Colao, S. I. Bekkelund, M. Yilmaz, O. Oktem-Tanor, R. Gine, M. E. Scheulen, J. Beuuer, A. Melo, Z. Gulay, M. D. Have, C. Frith, D. Liberati, J. Gozlan, P. Rondot, Ch. Brunholzl, M. Pocchiari, J. Pena, L. Moiola, C. Salvadori, A. Cabello, T. Catarci, S. Webb, C. Dettmers, N. A. Gregson, Alexandra Durr, F. Iglesias, U. Knorr, L. Ferrini-Strambi, F. Kruggel, P. Allard, A. Coquerel, P. Genet, F. Vinuels, C. Oberwittler, A. Torbicki, P. Leffers, B. Renault, B. Fauser, C. Ciano, G. Uziel, J. M. Gibson, F. Anaya, C. Derouesné, C. N. Anagnostou, M. Kaido, W. Eickhoff, G. Talerico, M. L. Berthier, A. Capdevila, M. Alons, D. Rezek, E. Wondrusch, U. Kauerz, D. Mateo, M. A. Chornet, Holon, N. Pinsard, I. Doganer, E. Paoino, H. Strenge, C. Diaz, J. R. Brasic, W. Heide, I. Santilli, W. M. Korn, D. Selcuki, M. J. Barrett, D. Krieger, T. Leon, T. Houallah, M. Tournilhac, C. Nos, D. Chavot, F. Barbieri, F. J. Jimenez-Jimenez, J. Muruzabal, K. Poeck, A. Sennlaub, L. M. Iriarte, L. G. Lazzarino, C. Sanz, P. A. Fischer, S. D. Shorvon, R. Hoermann, F. Delecluse, M. Krams, O. Corabianu, F. H. Hochberg, Christopher J. Mathias, B. Debachy, C. M. Poser, L. Delodovici, A. Jimenez-Escrig, F. Baruzzi, F. Godenberg, D. Cucinotta, P. J. Garcia Ruiz, K. Maier-Hauff, P. R. Bar, R. Mezt, R. Jochens, S. Karakaneva, C. Roberti, E. Caballero, Joseph E. Parisi, M. Zamboni, T. Lacasa, B. Baklan, J. C. Gautier, J. A. Martinez-Matos, W. Pollmann, G. Thomas, L. Verze, E. Chleide, R. Alvarez Sala, I. Noel, E. Albuisson, O. Kastrup, S. I. Rapoport, H. J. Braune, H. Lörler, M. Le Merrer, A. Biraben, S. Soler, S. J. Taagholt, U. Meyding-Lamadé, K. Bleasdale-Barr, Isabella Moroni, Y. Campos, J. Matias-Guiu, G. Edan, M. G. Bousser, John B. Clark, J. Garcia de Yebenes, N. K. Olsen, P. Hitzenberger, S. Einius, Aj Thompson, Ch. J. Vecht, T. Crepin-Leblond, Klaus L. Leenders, A. Di Muzio, L. Georgieva, René Spiegel, K. Sabey, D. Ménégalli, J. Meulstee, U. Liszka, P. Giral, C. Sunol, J. M. Espadaler, A. D. Crockar, K. Varli, G. Giraud, P. J. Hülser, A. Benazzouz, A. Reggio, M. Salvatore, K. Genc, M. Kushnir, S. Barbieri, J. Ph. Azulay, M. Gianelli, N. Bathien, A. AlMemar, F. Hentati, I. Ragueneau, F. Chiarotti, R. C. F. Smits, A. K. Asbury, F. Lacruz, B. Muller, Alan J. Thompson, Gordon Smith, K. Schmidt, C. Daems Monpeun, Juergen Weber, A. Arboix, G. R. Fink, A. M. Cobo, M. Ait Kaci Ahmed, E. Gencheva, Israel-Biet, G. Schlaug, P. De Jonghe, Philip Scheltens, K. Toyka, P. Gonzalez-Porque, A. Cila, J. M. Fernandez, P. Augustin, J. Siclia, S. Medaglini, D. E. Ziogas, A. Feve, L. Kater, G. J. E. Rinkel, D. Leppert, Rüdiger J. Seitz, S. Ried, C. Turc-Carel, G. Smeyers, F. Godinho, M. Czygan, M. Rijntjes, E. Aversa, M. Frigo, Leif Østergaard, J. L. Munoz Blanco, A. Cruz-Matinez, J. De Reuck, C. Theillet, T. Barroso, V. Oikonen, Florence Lebert, M. Kilinc, C. Cordon-Cardon, G. Stoll, E. Thiery, F. Pulcinelli, J. Solski, M. Schmiegelow, L. J. Polman, P. Fernandez-Calle, C. Wikkelso, M. Ben Hamida, M. Laska, E. Kott, W. Sulkowski, C. Lucas, N. M. Bornstein, D. Schmitz, M. W. Lammers, A. de Louw, R. J. S. Wise, P. A. van Darn, C. Antozzi, P. Villanueva, P. H. E. Hilkens, C. Constantin, W. Ricart, A. Wolf, M. Gamba, P. Maguire, Alessandro Padovani, B. M. Patten, Marie Sarazin, H. Ackermann, L. Durelli, S. Timsit, Sebastian Jander, B. W. Scheithauer, G. Demir, J. P. Neau, P. Barbanti, A. Brand, N. AraÇ, V. Fischer-Gagnepain, R. Marchioli, G. Serratrice, C. Maugard-Louboutin, G. T. Spencer, D. Lücke, G. Mainardi, K. Harmant Van Rijckevorsel, G. B. Creel, R. Manzanares, Francesco Fortunato, A. May, J. Workman, K. Johkura, E. Fernandez, Carlo Colosimo, L. Calliauw, L. Bet, Félix F. Cruz-Sánchez, M. Dhib, H. Meinardi, F. Carrara, J. Kuehnen, C. Peiro, H. Lassmann, K. Skovgaard Olsen, A. McDonald, L. Sciulli, A. Cobo, A. Monticelli, B. Conrad, J. Bagunya, J. Benitez, V. Desnizza, B. Dupont, O. Delrieu, D. Moraes, J. J. Heimans, F. Garcia Rio, M. Matsumto, A. Fernandez, R. Nermni, R. Chalmers, M. J. Marchau, F. Aguado, P. Velupillai, P. J. Martin, P. Tassan, V. Demarin, A. Engelien, T. Gerriets, Comar, J. L. Carrasco, J. P. Pruvo, A. Lopez de Munain, D. Pavitt, J. Alarcon, Chris H. Polman, B. Guldin, N. Yeni, Hartmut Brückmann, N. Wilczak, H. Szwed, R. Causaran, G. Kyriazis, M. E. Westarp, M. Gasparini, N. Pecora, J. M. Roda, E. Lang, V. Scaioli, David R. Fish, D. Caputo, O. Gratzl, R. Mercelis, A. Perretti, G. Steimetz, I. Link, C. Rigoletto, A. Catafau, G. Lucotte, M. Buti, G. Fagiolari, A. Piqueras, C. Godinot, J. C. Meurice, Erodriguez J. Dominigo, F. Lionnet, H. Grzelec, David J. Brooks, P. M. G. Munro, F. X. Weilbach, M. Maiwald, W. Split, B. Widjaja-Cramer, V. Ozturk, J. Colas, E. Brizioli, J. Calleja, L. Publio, M. Desi, R. Soffietti, P. Cortinovis-Tourniaire, E. F. Gonano, G. Cavaletti, S. Uselli, K. Westerlind, H. Betuel, C. O. Dhiver, H. Guggenheim, M. Hamon, R. Fazio, P. Lehikoinen, A. Esser, B. Sadzot, G. Fink, Angelo Antonini, D. Bendahan, V. Di Carlo, G. Galardi, A. F. Boller, M. Aksenova, Del Fiore, V. de la Sayette, H. Chabriat, A. Nicoletti, A. Dilouya, M. L. Harpin, E. Rouillet, J. Stam, A. Wolters, M. R. Delgado, Eduardo Tolosa, G. Said, A. J. Lees, L. Rinaldi, A. Schulze-Bonhage, MA Ron, C. Lefebvre, E. W. Radü, R. Alvarez, M. L. Bots, P. Reganati, S. Palazzi, A. Poggi, N. J. Scolding, V. Sazdovitch, T. Moreau, E. Maes, M. A. Estelies, P. Petkova, Jose-Felix Marti-Masso, G De La Meilleure, N. Mullatti, M. Rodegher, N. C. Notermans, T. A. T. Warner, S. Aktan, J. P. Louboutin, L. Volpe, C. Scheidt, W. Aust, C. M. Wiles, U. Schneider, S. K. Braekken, W. R. Willems, K. Usuku, Peter M. Rothwell, C. Talamon, M. L. Sacchetti, A. Codina, M. H. Marion, A. Santoro, J. Roda, A. Bordoni, D. J. Taylor, S. Ertas, H. H. Emmen, J. Vichez, V. BesanÇon, R. E. Passingham, M. L. Malosio, A. Vérier, M. Bamberg, A. W. Hansen, E. Mostacero, G. Gaudriault, Marie Vidailhet, B. Birebent, K. Strijckmans, F. Giannini, T. Kammer, I. Araujo, J. Nowicki, E. Nikolov, A. Hutzelmann, R. Gherardi, J. Verroust, L. Austoni, A. Scheller, A. Vazquez, S. Matheron, H. Holthausen, J. M. Gerard, M. Bataillard, S. Dethy, V. H. Patterson, V. Ivanez, N. P. Hirsch, F. Ozer, M. Sutter, C. Jacomet, M. Mora, Bruno Colombo, A. Sarropoulos, T. H. Papapetropoulos, M. Schwarz, D. S. Dinner, N. Acarin, B. Iandolo, J. O. Riis, P. R. J. Barnes, F. Taroni, J. Kazenwadel, L. Torre, A. Lugaresi, I. L. Henriques, S. Pauli, S. Alfonso, Pedro Quesada, A. S. T. Planting, J. M. Castilla, Thomas Gasser, M. Van der Linden, A. Alfaro, E. Nobile-Orazio, G. Popova, W. Vaalburg, F. G. A. van der Mech, L. Williams, F. Medina, J. P. Vernant, J. Yaouanq, B. Storch-Hagenlocher, A. Potemkowski, R. Riva, M. H. Mahagne, M. Ozturk, Ve. Drory, N. Konic, C. Jungreis, A. Pou Serradell, J. L. Gauvrit, G. J. Chelune, S. Hermandez, T. Dingus, L. Hewer, Ch. Koch, M. N. Metz-Lutz, G. Parlato, M. Sinaki, Charles Pierrot-Deseilligny, H. C. Diener, J. Broeckx, J. Weill-Fulazza, M. L. Villar, M. Rizzo, O. Ganslandt, C. Duran, N. A. Fletcher, G. Di Giovacchino, Susan T. Iannaccone, C. Kolig, N. Fabre, H. A. Crockard, Rita Bella, M. Tazir, E. Papagiannuli, K. Overgaard, Emma Ciafaloni, I. Lorenzetti, F. Viader, P. A. H. Millac, I. Montiel, L. H. Visser, M. Palomar, P. L. Murgia, H. Pedersen, Rafael Blesa, S. Seddigh, W. O. Renier, I. Lemahieu, H. M. L. Jansen, L. Rosin, J. Galofre, K. Mattos, M. Pondal, G. M. Hadjigeorgiou, D. Francis, L. Cantin, D. Stegeman, M. Rango, A. B. M. F. Karim, S. Schraff, B. Castellotti, I. Iriarte, E. Laborde, T. J. Tjan, R. Mutani, D. Toni, B. Bergaasco, J. G. Young, C. Klotzsch, A. Zincone, X. Ducrocq, M. Uchuya, O. J. Kolar, A. Quattrone, T. Bauermann, Nereo Bresolin, J. Vallée, B. C. Jacobs, A. Campos, Werner Poewe, J. A. Villanueva, A. W. Kornhuber, A. Malafosse, E. Diez-Tejedor, G. Jungreia, M. J. A. Puchner, A. Komiyama, O. Saribas, V. Volpini, L. Geremia, S. Bressi, A. Nibbio, Timothy E. Bates, T. z. Tzonev, E. Ideman, G. A. Damlacik, G. Martino, G. Crepaldi, T. Martino, Kjell Någren, E. Idiman, D. Samuel, J. M. Perez Trullen, Y. van der Graaf, J. O. Thorell, M. J. M. Dupuis, E. Sieber, R. D'Alessandro, C. Cazzaniga, J. Faiss, A. Tanguy, A. Schick, I. Hoksergen, A. Cardozo, R. Shakarishvili, G. K. Wennlng, J. L. Marti-Vilalta, J. Weissenbach, I. L. Simone, Amalia C. Bruni, Darius J. Adams, C. Weiller, A. Pietrangeli, F. Croria, C. Vigo-Pelfrey, Patricia Limousin, A. Ducros, G. Conti, O. Lindvall, E. Richter, M. Zuffi, A. Nappo, T. Riise, J. Wijdenes, M. J. Fernandez, J. Rosell, P. Vermersh, S. Servidei, M. S. C. Verdugo, F. Gouttiere, W. Solbach, M. Malbezin, I. S. Watanabe, A. Tumac, W. I. McDonald, D. A. Butterfield, P. P. Costa, F. deRino, F. Bamonti, J. M. Cesar, C. H. Lahoz, I. Mosely, M. Starck, M. H. Lemaitre, K. M. Stephan, S. Tex, R. Bokonjic, I. Mollee, L. Pastena, M. Gutierrez, F. Boiler, M. C. Martinez-Para, M. Velicogna, O. Obuz, A. Grinspan, M. Guarino, L. M. Cartier, E. Ruiz, D. Gambi, S. Messina, M. Villa, Michael G. Hanna, J. Valk, Leone Pascual, M. Clanet, Z. Argov, B. Ryniewicz, E. Magni, B. Berlanga, K. S. Wong, C. Gellera, C. Prevost, F. Gonzalez-Huix, R. Petraroli, J. E. G. Benedikz, I. Kojder, C. Bommelaer, L. Perusse, M. R. Bangioanni, Guy M. McKhann, A. Molina, C. Fresquet, E. Sindern, Florence Pasquier, M. J. Rosas, M. Altieri, O. Simoncini, M. Koutroumanidis, C. A. F. Tulleken, M. Dary-Auriol, S. Oueslati, H. Kruyer, I. Nishisho, C. R. Horning, A. Vital, G. V. Czettritz, J. Ph. Neau, B. Mihout, A. Ameri, M. Francis, S. Quasthoff, D. Taussig, S. Blunt, P. Valentin, C. Y. Gao, O. Heinzlef, H. d'Allens, C. Coudero, M. Erfas, G. Borghero, P. J. Modrego Pardo, M. C. Patrosso, N. L. Gershfeld, P. A. J. M. Boon, O. Sabouraud, M. Lara, J. Svennevig, G. L. Lenzi, A. Barrio, H. Villaroya, JosÇ M. Manubens, O. Boespflug-Tanguy, M. Carreras, D. A. Costiga, J. P. Breux, S. Lynn, C. Oliveras Ley, A. G. Herbaut, J. Nos, C. Tornali, Y. A. Hekster, J. L. Chopard, J. M. Manubens, P. Chemouilli, A. Jovicic, F. Dworzak, S. Smirne, S. E. Soudain, B. Gallano, D. Lubach, G. Masullo, G. Izquierdo, A. Pascual Leone Pascual, A. Sessa, V. Freitas, O. Crambes, L. Ouss, G. W. Van Dijk, P. Marchettini, P. Confalonieri, M. Donaghy, A. Munnich, M. Corbo, and M. E. L. van der Burg
- Subjects
Neurology ,business.industry ,Media studies ,Library science ,Medicine ,Neurology (clinical) ,business - Published
- 1994
- Full Text
- View/download PDF
6. CONGENITAL MUSCULAR DYSTROPHIES WITH STRUCTURAL BRAIN INVOLVEMENT: THE ROLE OF BRAIN MRI
- Author
-
J Vajsar
- Subjects
Pathology ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Brain mri ,Neurology (clinical) ,General Medicine ,business - Published
- 2006
- Full Text
- View/download PDF
7. Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive
- Author
-
C. Hawkins, J. Vajsar, Ann Saada, David R. Thorburn, Phillipa J. Lamont, Nigel G. Laing, Victoria A. Fabian, Hayley J. Durling, and Yoram Nevo
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Respiratory chain ,Myopathies, Nemaline ,Nemaline myopathy ,medicine ,Humans ,Muscle biopsy ,Electron Transport Complex I ,Muscle Weakness ,medicine.diagnostic_test ,business.industry ,Infant, Newborn ,Muscle weakness ,General Medicine ,medicine.disease ,Hypotonia ,Failure to Thrive ,Motor delay ,Pediatrics, Perinatology and Child Health ,Failure to thrive ,Muscle Hypotonia ,Female ,sense organs ,Neurology (clinical) ,Abnormality ,medicine.symptom ,business - Abstract
Three infants are described who had nemaline rods on muscle biopsy and isolated deficiency of complex I of the respiratory chain on biochemical analysis. They all manifested failure to thrive from birth, and hypotonia and muscle weakness within the first three months of life. Different genetic defects leading to isolated complex I deficiency have been described associated with a variety of morphological changes on muscle biopsy, but rods have not been described. Nemaline rods have been secondary phenomena in a number of conditions, as well as being the primary abnormality in nemaline myopathy. However, the combination of nemaline rods and complex I deficiency is an association not previously reported.
- Published
- 2004
8. Myopathy with Allgrove syndrome
- Author
-
S H, Ibrahim, J, Vajsar, and V, Jay
- Subjects
Esophageal Achalasia ,Male ,Lacrimal Apparatus Diseases ,Muscular Diseases ,Humans ,Syndrome ,Child ,Adrenal Insufficiency - Published
- 2004
9. Spontaneous Non-Traumatic Anterior Compartment Syndrome with Peroneal Neuropathy and Favorable Outcome
- Author
-
P S Babyn, J Vajsar, A E Sloane, E G Murphy, and R M Laxer
- Subjects
medicine.medical_specialty ,Foot drop ,Neural Conduction ,Electromyography ,Nerve conduction velocity ,Tibialis anterior muscle ,Humans ,Medicine ,medicine.diagnostic_test ,business.industry ,Peripheral Nervous System Diseases ,Peroneal Nerve ,General Medicine ,Prognosis ,Compound muscle action potential ,Surgery ,Anterior Compartment Syndrome ,Child, Preschool ,Anesthesia ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Extensor digitorum brevis muscle - Abstract
We report a girl who spontaneously developed an anterior compartment syndrome with an associated deep peroneal neuropathy. Initial nerve conduction studies (NCS) recorded from the extensor digitorum brevis muscle demonstrated prolongation of the distal latency to 7.8 msec (normal contralateral side, 3.6 msec), and reduction in amplitude of the compound muscle action potential to 0.1 mV (normal contralateral side, 9.9 mV). Electromyography of the tibialis anterior muscle showed an absence of motor unit potentials. Serum creatine kinase was markedly elevated to 12,769 IU. Computed tomography (CT) showed evidence of necrotic muscle. One month later, the foot drop, repeat NCS, and CT demonstrated a significant improvement with conservative management.
- Published
- 1994
- Full Text
- View/download PDF
10. IGIV in neurology--evidence and recommendations
- Author
-
V, Bril, K, Allenby, G, Midroni, P W, O'Connor, and J, Vajsar
- Subjects
Neurology ,Polyradiculoneuropathy ,Humans ,Immunoglobulins, Intravenous ,Middle Aged ,Motor Neuron Disease ,Child ,Aged ,Demyelinating Diseases - Abstract
To summarize the evidence for neurologic uses of immunoglobulin, intravenous (IGIV) in light of present-day clinical usage. This summary guided the development of practice recommendations for the effective and efficient use of IGIV in Neurology.MEDLINE was searched to identify pertinent English-language review articles and original reports (n = 231) on the use of IGIV in neurology (excluding editorials, letters, and comments) published before March 1998. Evidence on alternative therapies was only included as compared to IGIV. The relevant original reports and review articles and older classic studies (n = 92) were synthesized into an information foundation. Extracted data included laboratory and clinical findings, objective measures, and clinical impressions. Clinical recommendations were based on evidence quality, graded by study design, clinical experiences of IGIV in Neurology Advisory Board members, and the conditions of IGIV use in therapy.In neurology, many disorders are poorly understood, and the mechanisms behind beneficial regimens even less so. As a result, it is fairly common for best-practice decisions to rest on weaker evidence. The usefulness of IGIV in neurology can be described by a "combined score" based on evidence quality and strength of impact. Combined scores ranged from A+ (strongly recommended) to C (recommended as a last resort). The following clinical recommendations are made: IGIV is: strongly recommended for the treatment of Guillain-Barré syndrome (A+); favorably recommended for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy, dermatomyositis, and multifocal motor neuropathy (A); recommended as a second resort for the treatment of multiple sclerosis and myasthenia gravis (B); and recommended as a last resort for the treatment of polymyositis, inclusion-body myositis, intractable epilepsies, and stiff-man syndrome (C).
- Published
- 1999
11. Amplitudes of sural and radial sensory nerve action potentials in orthodromic and antidromic studies in children
- Author
-
J L, Melendrez, L J, MacMillan, and J, Vajsar
- Subjects
Adult ,Male ,Adolescent ,Sural Nerve ,Electromyography ,Action Potentials ,Humans ,Peripheral Nervous System Diseases ,Female ,Radial Nerve ,Child - Abstract
Several previous studies of adults have reported that the amplitudes of the sural and superficial radial nerve action potentials (SN and SRN SNAP respectively) are larger with antidromic than with orthodromic recordings. However, this difference has not been documented in children. This study evaluated the amplitudes of SN and SRN SNAPs obtained with antidromic and orthodromic recordings in children with and without neuropathy and compared these data with findings in adults. The SN or SRN or both of 10 neurologically normal children, 6 children with neuropathy and 7 healthy adults were studied with surface stimulation and recording. The position of the stimulating and recording electrodes for the orthodromic recordings was the reverse of that for the antidromic recordings. Peak-to-peak SNAP amplitudes were measured and analyzed. The mean of the SRN SNAP amplitude was significantly higher with the antidromic than the orthodromic technique for the first and third groups (p0.05). The mean SN SNAP amplitude was higher in the three groups, but not statistically significant when the data for the children and adult normal groups were combined and reanalyzed (p0.05). Consistent responses were obtained with both techniques. However, the antidromic technique was superior to the orthodromic technique because of the greater amplitude of responses. We recommend the use of the antidromic technique because of its greater amplitudes, ease of use and potential reduction of discomfort to the patient.
- Published
- 1998
12. Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome
- Author
-
G Secmeer, J Vajsar, G Kanra, A Ozon, L Castagna, and Haluk Topaloglu
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Treatment outcome ,Guillain-Barre Syndrome ,Drug Administration Schedule ,hemic and lymphatic diseases ,medicine ,Humans ,In patient ,Bulbar signs ,Child ,Infusions, Intravenous ,Retrospective Studies ,Neurologic Examination ,Guillain-Barre syndrome ,biology ,Dose-Response Relationship, Drug ,business.industry ,Immunization, Passive ,Retrospective cohort study ,General Medicine ,medicine.disease ,Treatment Outcome ,Total dose ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,biology.protein ,Female ,Neurology (clinical) ,Antibody ,business ,Polyneuropathy - Abstract
We have retrospectively reviewed the data of 75 consecutive children diagnosed with Guillain-Barre syndrome (GBS) and hospitalized in two centres. There were 51 children with GBS treated in Ankara, Turkey and 24 patients treated in Toronto, Canada. To evaluate the effect of intravenous immunoglobulin (IVIG) treatment, the patients were divided into three groups. All 24 Canadian patients received IVIG in a dose of 1 g/kg/day for 2 days. In the Ankara group 23 children received 0.4 g/kg/day for 5 days and the remaining 28 patients in that group received supportive treatment only. In all but two patients IVIG was started within the first 2 weeks of neuropathic symptoms. The patients' data, including mean functional grades, frequency of bulbar signs and autonomic dysfunction and age were similar in all three groups. Analysis of the short-term outcome demonstrated that the patients treated with IVIG had a significantly faster rate of recovery. Mean time-lapse until improvement of one functional grade was 17.4 days in the IVIG group from Toronto, and 20.8 days in the IVIG group and 62.4 days in the non-IVIG group of patients from Ankara. We conclude that IVIG has considerable efficacy in the treatment of children with GBS. Furthermore, we have also demonstrated a faster rate of recovery in patients who received a total dose of IVIG in 2 days as opposed to 5 days.
- Published
- 1997
13. Fetal nerve healing: an experimental study
- Author
-
K Y, Lin, J C, Posnick, M M, al-Qattan, J, Vajsar, and L E, Becker
- Subjects
Electrophysiology ,Aging ,Fetus ,Sheep ,Neural Conduction ,Action Potentials ,Animals ,Female ,Tibial Nerve ,Nerve Regeneration - Abstract
An experimental study was performed to assess fetal nerve repair and regeneration both qualitatively and quantitatively. The posterior tibial nerves in one hindlimb were transected in 16 midgestational fetal lambs and in their mothers. The nerves were then repaired with epineurial sutures and allowed to progress to 2, 4, 6, and 8 weeks postinjury. Qualitative assessment was performed through standard nerve histologic staining, including Luxol fast and toluidine blue for myelin and Bielschowsky stain for axons, and quantitative assessment through nerve conduction velocity studies and morphometry to determine mean myelinated fiber diameter, total fiber number, and density. A frequency histogram of the distribution of myelinated nerve fibers according to fiber diameter also was generated. In our model, the subsequent fetal nerve response to injury was characterized by earlier degeneration than in the adult counterparts. Repair and regeneration proceeded with dense collagenous scar formation in both groups. Electrophysiologic studies showed nerve impulse conduction across the repair site only at 6 and 8 weeks postinjury in both fetus and adult. Action potential amplitudes at 6 and 8 weeks were measured at 3 to 5 percent of control nerves in both nerve types. No electrophysiologic differences in the recovery of the injured fetal and adult nerves could be identified. Morphometry revealed that fetal nerve regeneration appeared to occur at a rate equivalent to that of the adult, although by 8 weeks the total percentage of remyelinated nerves appeared more complete in the fetus than in the adult (87 versus 59 percent), suggesting that fetal nerves may have a more favorable regenerative capacity than their adult counterparts.
- Published
- 1994
14. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments
- Author
-
R M Freedom, E G Murphy, L E Becker, and J Vajsar
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Cardiomyopathy ,macromolecular substances ,Biology ,Desmin ,Muscular Diseases ,Heat shock protein ,medicine ,Intermediate Filament Protein ,Humans ,Cytoskeleton ,Intermediate filament ,Myopathy ,Muscles ,Cardiac muscle ,medicine.disease ,Immunohistochemistry ,Psychiatry and Mental health ,Microscopy, Electron ,medicine.anatomical_structure ,Child, Preschool ,Surgery ,Female ,Neurology (clinical) ,medicine.symptom ,Research Article - Abstract
Two siblings developed cardiomyopathy several years before slowly progressive muscle weakness. Skeletal muscle biopsy specimens showed subsarcolemmal crescents of dark eosinophilic material in both type I and type II fibres. Immunohistochemically the subsarcolemmal material stained positively for the intermediate filament protein desmin and for the heat shock protein ubiquitin but for no other cytoskeletal proteins. Ultrastructurally the subsarcolemmal deposits consisted of aggregates of granular and filamentous material arising from Z-bands. Follow up muscle biopsies six years later showed an increased number of the muscle fibres that contained subsarcolemmal aggregates that stained positively for desmin and ubiquitin. These clinical and pathological features characterise a rare familial myopathy associated with an unusual distribution of desmin intermediate filament proteins in skeletal and probably also cardiac muscle.
- Published
- 1993
15. Letters
- Author
-
J Vajsar, A Ozon, and H Topaloglu
- Subjects
Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,General Medicine - Published
- 1998
- Full Text
- View/download PDF
16. Clinical correlates of giant EPs in children
- Author
-
Lynn J. MacMillan, J. Vajsar, William J. Logan, and Margot J. Taylor
- Subjects
General Neuroscience ,Neurology (clinical) - Published
- 1993
- Full Text
- View/download PDF
17. [The relationship between dermatophoric curves and vasomotor reactions in children's cephalalgia (author's transl)]
- Author
-
I, Lesný, S, Figar, J, Vajsar, A, Snoblová, L, Nikolaidu, and M, Dusák
- Subjects
Vasodilation ,Vasomotor System ,Headache ,Humans ,Galvanic Skin Response ,Child - Published
- 1979
18. [Behaviour of monosynaptic spinal reflexes in the application of double stimuli in normal children]
- Author
-
M, Lehovský, J, Kraus, J, Vajsar, and V, Tosnarová
- Subjects
H-Reflex ,Adolescent ,Reflex, Monosynaptic ,Child, Preschool ,Humans ,Infant ,Neurons, Afferent ,Anxiety ,Child ,Electric Stimulation - Published
- 1976
19. [Acute infantile hemiplegia. Contribution of computer tomography]
- Author
-
J, Svatý, M, Lehovský, J, Vajsar, and J, Böhm
- Subjects
Male ,Adolescent ,Child, Preschool ,Acute Disease ,Humans ,Infant ,Female ,Hemiplegia ,Intracranial Embolism and Thrombosis ,Child ,Cerebral Hemorrhage - Published
- 1984
20. Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies.
- Author
-
McMillan HJ, Gonorazky H, Campbell C, Chrestian N, Crone M, Dowling JJ, Joyal K, Kolski H, Leung E, Mackenzie A, Mah JK, McAdam L, Nigro E, Nguyen CT, Oskoui M, Poulin C, Sheriko J, Tarnopolsky M, Vajsar J, Yaworski A, and Selby K
- Published
- 2024
- Full Text
- View/download PDF
21. Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.
- Author
-
Alawneh I, Alenizi A, Paiz F, Nigro E, Vajsar J, and Gonorazky H
- Subjects
- Humans, Child, Immunoglobulins, Intravenous therapeutic use, Adrenal Cortex Hormones therapeutic use, Plasmapheresis methods, Diagnosis, Differential, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating therapy
- Abstract
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune neurological disorder seen in both pediatric and adult populations. CIDP typically presents with progressive and persistent weakness over at least 4 weeks in addition to sensory symptoms in the extremities. Although CIDP shares common clinical features between children and adults, it sometimes presents as a distinct clinical entity in children that requires close attention and recognition. A major caveat when diagnosing a child with CIDP is the clinical and diagnostic overlap with inherited neuropathies, most commonly Charcot-Marie-Tooth disease (CMT). Demyelinating CMT (dCMT) and CIDP might share similar clinical presentations, and sometimes it might be difficult to differentiate them on the basis of the electrodiagnostic findings or cerebrospinal fluid (CSF) albumino-cytological dissociation. This indeed merits early consideration for genetic testing in patients who do not respond to conventional CIDP therapies. Current treatment options for CIDP include intravenous immunoglobulins (IVIG), corticosteroids (CS), and plasmapheresis (PLEX). The need for novel therapies is essential in instances where patients continue to have symptoms despite the standard therapies or due to adverse effects of long-term use of standard therapies such as CS. This paper reviews the challenges in the diagnosis of CIDP in children and the current as well as novel therapies for CIDP., (© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)
- Published
- 2024
- Full Text
- View/download PDF
22. Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
- Author
-
Kernohan KD, McMillan HJ, Yeh E, Lacaria M, Kowalski M, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, Mackenzie A, and Chakraborty P
- Subjects
- Infant, Newborn, Humans, Ontario, Genetic Testing, Neonatal Screening, Muscular Atrophy, Spinal diagnosis, Muscular Atrophy, Spinal genetics
- Published
- 2022
- Full Text
- View/download PDF
23. Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care.
- Author
-
Menon D, Gonorazky HD, Dowling JJ, McAdam L, Ansari T, Vajsar J, Yoon G, Bril V, and Katzberg H
- Subjects
- Adult, Child, Humans, Retrospective Studies, Motor Neuron Disease, Neuromuscular Diseases therapy, Scoliosis therapy, Transition to Adult Care
- Abstract
Transition in paediatric health care refers to the planned process of shifting to an adult model of care and is highly individualised, patient focussed and requires a coordinated effort from different health care professionals. Through this retrospective study, we describe the spectrum of neuromuscular diseases evaluated through a paediatric to adult neuromuscular transition program in a tertiary academic centre in Canada, and also the speciality supports needed for these patients. 126 patients were transitioned during the study period. The most common clinical diagnosis was muscle disease (44.4%), followed by neuropathy (27.8%), neuromuscular junction disorders (15.9%) and motor neuron disease (MND) (10.3%). The majority of cases were inherited neuromuscular disorders (66.6%); 58.3% had a genetically confirmed diagnosis. Cardiac and respiratory abnormalities were encountered in 8.7% and 27.7% and transitioning was required for 39.8% and 35.7% respectively. Scoliosis was seen in 30.2% of patients; 9.5% underwent spine surgery. Patients with MND had maximum requirements for self-care (46.2% of MND) and a mobility device for ambulation was required in 69.2% of MND. We observed a wide range of systemic issues requiring the services of endocrinology, gastroenterology, speech and language pathology and psychiatry. A multidisciplinary clinical care model may provide optimal care for patients transitioning from paediatric to adult care health systems., (Copyright © 2021 Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
24. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
- Author
-
McMillan HJ, Kernohan KD, Yeh E, Amburgey K, Boyd J, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, MacKenzie A, and Chakraborty P
- Subjects
- Early Diagnosis, Follow-Up Studies, Humans, Infant, Newborn, Ontario, Muscular Atrophy, Spinal, Neonatal Screening
- Abstract
Background: Spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons causing muscle atrophy and weakness. Nusinersen, the first effective SMA therapy was approved by Health Canada in June 2017 and has been added to the provincial formulary of all but one Canadian province. Access to this effective therapy has triggered the inclusion of SMA in an increasing number of Newborn Screening (NBS) programs. However, the range of disease-modifying SMN2 gene copy numbers encountered in survival motor neuron 1 (SMN1)-null individuals means that neither screen-positive definition nor resulting treatment decisions can be determined by SMN1 genotype alone. We outline an approach to this challenge, one that specifically addresses the case of SMA newborns with four copies of SMN2., Objectives: To develop a standardized post-referral evaluation pathway for babies with a positive SMA NBS screen result., Methods: An SMA NBS pilot trial in Ontario using first-tier MassARRAY and second-tier multi-ligand probe amplification (MLPA) was launched in January 2020. Prior to this, Ontario pediatric neuromuscular disease and NBS experts met to review the evidence regarding the diagnosis and treatment of children with SMA as it pertained to NBS. A post-referral evaluation algorithm was developed, outlining timelines for patient retrieval and management., Conclusions: Ontario's pilot NBS program has created a standardized path to facilitate early diagnosis of SMA and initiation of treatment. The goal is to provide timely access to those SMA infants in need of therapy to optimize motor function and prolong survival.
- Published
- 2021
- Full Text
- View/download PDF
25. Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.
- Author
-
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, and Farwell W
- Subjects
- Dose-Response Relationship, Drug, Drug Administration Schedule, Female, Humans, Infant, Male, Muscular Atrophy, Spinal pathology, Oligonucleotides administration & dosage, Ontario, Treatment Outcome, United States, Muscular Atrophy, Spinal drug therapy, Oligonucleotides therapeutic use
- Abstract
Background: Nusinersen showed a favourable benefit-risk profile in participants with infantile-onset spinal muscular atrophy at the interim analysis of a phase 2 clinical study. We present the study's final analysis, assessing the efficacy and safety of nusinersen over 3 years., Methods: This phase 2, open-label, multicentre, dose-escalation study was done in three university hospital sites in the USA and one in Canada. Infants aged between 3 weeks and 6 months with two or three SMN2 gene copies and infantile-onset spinal muscular atrophy were eligible for inclusion. Eligible participants received multiple intrathecal loading doses of 6 mg equivalent nusinersen (cohort 1) or 12 mg dose equivalent (cohort 2), followed by maintenance doses of 12 mg equivalent nusinersen. The protocol amendment on Jan 25, 2016, changed the primary efficacy endpoint from safety and tolerability to reaching motor milestones, assessed using the Hammersmith Infant Neurological Examination section 2 (HINE-2) at the last study visit, in all participants who successfully completed the loading dose period and day 92 assessment. The statistical analysis plan was amended on Feb 10, 2016, to include additional analyses of the subgroup of participants with two SMN2 copies. Adverse events were assessed in all participants who received at least one dose of study treatment. The study is registered at ClinicalTrials.gov (NCT01839656)., Findings: Between May 3, 2013, and July 9, 2014, 20 symptomatic participants with infantile-onset spinal muscular atrophy (12 boys and 8 girls; median age at diagnosis 78 days [range 0-154]) were enrolled. Median time on study was 36·2 months (IQR 20·6-41·3). The primary endpoint of an incremental improvement in HINE-2 developmental motor milestones was reached by 12 (63%) of 19 evaluable participants. In the 13 participants with two SMN2 copies treated with 12 mg nusinersen, the HINE-2 motor milestone total score increased steadily from a baseline mean of 1·46 (SD 0·52) to 11·86 (6·18) at day 1135, representing a clinically significant change of 10·43 (6·05). At study closure (Aug 21, 2017), 15 (75%) of 20 participants were alive. 101 serious adverse events were reported in 16 (80%) of 20 participants; all five deaths (one in cohort 1 and four in cohort 2) were likely to be related to spinal muscular atrophy disease progression., Interpretation: Our findings are consistent with other trials of nusinersen and show improved survival and attainment of motor milestones over 3 years in patients with infantile-onset spinal muscular atrophy, with a favourable safety profile., Funding: Biogen and Ionis Pharmaceuticals., Competing Interests: Declaration of interests RSF reports grants and advisor fees from Biogen and Ionis Pharmaceuticals during CS3A, ENDEAR and CHERISH; grants from AveXis, Cytokinetics, Roche, and Scholar Rock; and royalty payments from Children's Hospital of Philadelphia for licensing fees obtained for use of the CHOP INTEND motor function scale. RSF is also advisor to AveXis, Novartis, and Genentech–Roche, on the data safety monitoring board for the AveXis AVXS-101 phase 1 gene transfer study and Roche Moonfish phase 1b study, and is an advisor for non-profit organisations: CureSMA, EveryLife Foundation, n-Lorem Foundation, SMA Europe, SMA Foundation, and SMA Reach. CAC reports grants from AveXis, Biogen, Ionis Pharmaceuticals, Roche, and National Institutes of Health and is on advisory boards of spinal muscular atrophy studies for AveXis, Biogen, Cytokinetics, Genentech, Ionis Pharmaceuticals, and Roche. JV reports grants and advisor fees from Biogen and Ionis Pharmaceuticals during CS3A and ENDEAR, and a grant from CSL Behring. JWD reports grants from AMO Pharma, Audentes, Biogen, Ionis Pharmaceuticals, Novartis Gene Therapies, Pfizer, Roche–Genentech, Sanofi–Genzyme, Sarepta, and Scholar Rock, and is a consultant for Affinia, AMO Pharma, Avidity, Biogen, Ionis Pharmaceuticals, Kate Therapeutics, Novartis Gene Therapies, Pfizer, Roche–Genentech, Sarepta, Scholar Rock, and Shift Pharmaceuticals; and has patents licensed to Athena Diagnostics for genetic testing of myotonic dystrophy type 2 (US patent 7442782) and spinocerebellar ataxia type 5 (US patent 7527931). JM reports research support from Eunice Kennedy Shriver National Institute for Child Health and Human Development (1K01HD084690-01A1) and Muscular Dystrophy Association (575870 and 629259), is on advisory boards for Biogen, Cytokinetics, Roche, Scholar Rock, and SMA Foundation, and is a consultant for Biogen and Ionis Pharmaceuticals. DCD reports clinical trial funding from Biogen, Mallinckrodt, PTC, Sarepta, Scholar Rock, and Ultragenyx and grants from Hope for Children Research Foundation, National Institutes of Health, SMA Foundation, and US Department of Defense. DCD is also an advisor for AveXis, Biogen, Cytokinetics, Ionis Pharmaceuticals, Metafora, Roche, Sanofi, Sarepta, and SMA Foundation. KMB was an employee of Ionis Pharmaceuticals during the design and conduct of this study and is currently an employee of Locana. KMB is an advisor to Myotonic Dystrophy Foundation and SMA Foundation and has issued patents (US patents 9926559 and 8980853) concerning nusinersen. RF, YL, and JW are employees of and hold stock options in Biogen. DR-S and WF are former employees of and held stock options in Biogen. ES is an employee of Ionis Pharmaceuticals. CFB is an employee of Ionis Pharmaceuticals and has issued patents (US patents 9926559 and 8980853) concerning nusinersen., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
26. A National Spinal Muscular Atrophy Registry for Real-World Evidence.
- Author
-
Hodgkinson VL, Oskoui M, Lounsberry J, M'Dahoma S, Butler E, Campbell C, MacKenzie A, McMillan HJ, Simard L, Vajsar J, Brais B, Chapman KM, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Hasal S, Izenberg A, Johnston W, Leung E, Lochmüller H, Mah JK, Marerro A, Massie R, McAdam L, McCormick A, Melanson M, Mezei MM, Nguyen CE, O'Connell C, O'Ferrall EK, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg KL, Selby K, Sheriko J, Shoesmith C, Smith G, Taillon M, Taylor S, Warman Chardon J, Worley S, and Korngut L
- Subjects
- Canada, Child, Humans, Prospective Studies, Rare Diseases, Registries, Muscular Atrophy, Spinal therapy
- Abstract
Background: Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population., Methods: The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials., Results: The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner., Conclusion: Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.
- Published
- 2020
- Full Text
- View/download PDF
27. Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis.
- Author
-
Katzberg HD, Vajsar J, Vezina K, Qashqari H, Selvadurai S, Chrestian N, Khayat A, Ryan CM, and Narang I
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Male, Prospective Studies, Sleep Apnea Syndromes complications, Sleep Apnea Syndromes physiopathology, Spirometry, Vital Capacity, Myasthenia Gravis complications, Myasthenia Gravis physiopathology, Respiration Disorders complications, Respiration Disorders physiopathology
- Abstract
Objectives: The purpose of this study was to prospectively evaluate sleep patterns and the presence of sleep-disordered breathing in children with myasthenia gravis. We further aimed to examine the relationship between sleep and daytime respiratory function using spirometry tests including upright and supine forced vital capacity, sniff nasal inspiratory pressure, and maximal inspiratory pressure., Methods: Eleven children between 3 and 18 years old with confirmed myasthenia gravis were recruited from The Hospital for Sick Children Neuromuscular Clinic in this prospective observational study. After informed consent was obtained, patients underwent a comprehensive clinical assessment with collection of anthropometric data. Following this, all subjects performed pulmonary function tests, overnight polysomnography and completed the Epworth Sleepiness Scale questionnaire., Results: Two of eleven children who reported no symptoms of sleep disordered breathing were diagnosed with mild to moderate obstructive sleep apnea. Pulmonary function tests showed abnormal maximal inspiratory pressure in 6 of 11 patients, whereas seated forced vital capacity as well as seated to supine forced vital capacity ratios were normal in the entire group., Conclusions: In our small group of pediatric myasthenia gravis subjects, there was an unexpected finding of obstructive sleep apnea in 2 of the 11 patients studied. Maximal inspiratory pressure appears to be a more sensitive method of detecting abnormalities compared to upright or seated forced vital capacity. A larger multicenter study is needed to validate our findings and to determine the impact of obstructive sleep apnea in the pediatric myasthenia gravis population as well as risk factors associated with sleep disordered breathing.
- Published
- 2020
- Full Text
- View/download PDF
28. Signs and Symptoms in Congenital Myopathies.
- Author
-
Gonorazky HD, Dowling JJ, Volpatti JR, and Vajsar J
- Subjects
- Humans, Mutation, Myopathies, Structural, Congenital genetics, Myopathies, Structural, Congenital diagnosis
- Abstract
Congenital myopathies (CM) represent a continuously growing group of disorders with a wide range of clinical and histopathologic presentations. The refinement and application of new technologies for genetic diagnosis have broadened our understanding of the genetic causes of CM. Our growing knowledge has revealed that there are no clear limits between each subgroup of CM, and thus the clinical overlap between genes has become more evident. The implementation of next generation sequencing has produced vast amounts of genomic data that may be difficult to interpret. With an increasing number of reports revealing variants of unknown significance, it is essential to support the genetic diagnosis with a well characterized clinical description of the patient. Phenotype-genotype correlation should be a priority at the moment of disclosing the genetic results. Thus, a detailed physical examination can provide us with subtle differences that are not only key in order to arrive at a correct diagnosis, but also in the characterization of new myopathies and candidate genes., (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Published
- 2019
- Full Text
- View/download PDF
29. Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d'excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy.
- Author
-
Campbell C, Selby K, McMillan H, Vajsar J, Korngut L, Brais B, MacKenzie A, and Oskoui M
- Published
- 2018
- Full Text
- View/download PDF
30. Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
- Author
-
Gonorazky HD, Amburgey K, Yoon G, Vajsar J, Widjaja E, and Dowling JJ
- Subjects
- Cysts diagnostic imaging, Female, Guillain-Barre Syndrome diagnostic imaging, Hereditary Central Nervous System Demyelinating Diseases diagnostic imaging, Humans, Infant, Magnetic Resonance Imaging, Neural Conduction physiology, Cysts physiopathology, Guillain-Barre Syndrome physiopathology, Hereditary Central Nervous System Demyelinating Diseases physiopathology, Peripheral Nerves physiopathology
- Published
- 2017
- Full Text
- View/download PDF
31. Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada.
- Author
-
Yea C, Bitnun A, Robinson J, Mineyko A, Barton M, Mah JK, Vajsar J, Richardson S, Licht C, Brophy J, Crone M, Desai S, Hukin J, Jones K, Muir K, Pernica JM, Pless R, Pohl D, Rafay MF, Selby K, Venkateswaran S, Bernard G, and Yeh EA
- Subjects
- Action Potentials physiology, Adolescent, Adrenal Cortex Hormones therapeutic use, Canada, Child, Child, Preschool, Electromyography, Enterovirus Infections physiopathology, Female, Humans, Immunoglobulins, Intravenous therapeutic use, Infant, Male, Muscle, Skeletal physiopathology, Neural Conduction physiology, Paraplegia diagnostic imaging, Paraplegia drug therapy, Paraplegia virology, Plasmapheresis, Retrospective Studies, Treatment Outcome, Brain diagnostic imaging, Enterovirus D, Human, Enterovirus Infections complications, Paraplegia therapy
- Abstract
We describe the presenting features and long-term outcome of an unusual cluster of pediatric acute flaccid paralysis cases that occurred in Canada during the 2014 enterovirus D68 outbreak. Children (n = 25; median age 7.8 years) presenting to Canadian centers between July 1 and October 31, 2014, and who met diagnostic criteria for acute flaccid paralysis were evaluated retrospectively. The predominant presenting features included prodromal respiratory illness (n = 22), cerebrospinal fluid lymphocytic pleocytosis (n = 18), pain in neck/back (n = 14) and extremities (n = 10), bowel/bladder dysfunction (n = 9), focal central gray matter lesions found in all regions of the spinal cord within the cohort (n = 16), brain stem lesions (n = 8), and bulbar symptoms (n = 5). Enterovirus D68 was detectable in nasopharyngeal specimens (n = 7) but not in cerebrospinal fluid. Acute therapies (corticosteroids, intravenous immunoglobulins, plasmapheresis) were well tolerated with few side effects. Fourteen of 16 patients who were followed beyond 12 months post onset had neurologic deficits but showed ongoing clinical improvement and motor recovery.
- Published
- 2017
- Full Text
- View/download PDF
32. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
- Author
-
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, and Bishop KM
- Subjects
- Female, Humans, Injections, Spinal, Male, Mutation, Oligonucleotides adverse effects, Oligonucleotides pharmacokinetics, RNA, Messenger genetics, Oligonucleotides administration & dosage, Patient Safety, Spinal Muscular Atrophies of Childhood drug therapy
- Abstract
Background: Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy., Methods: This open-label, phase 2, escalating dose clinical study assessed the safety and tolerability, pharmacokinetics, and clinical efficacy of multiple intrathecal doses of nusinersen (6 mg and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy. Eligible participants were of either gender aged between 3 weeks and 7 months old with onset of spinal muscular atrophy symptoms between 3 weeks and 6 months, who had SMN1 homozygous gene deletion or mutation. Safety assessments included adverse events, physical and neurological examinations, vital signs, clinical laboratory tests, cerebrospinal fluid laboratory tests, and electrocardiographs. Clinical efficacy assessments included event free survival, and change from baseline of two assessments of motor function: the motor milestones portion of the Hammersmith Infant Neurological Exam-Part 2 (HINE-2) and the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) motor function test, and compound motor action potentials. Autopsy tissue was analysed for target engagement, drug concentrations, and pharmacological activity. HINE-2, CHOP-INTEND, and compound motor action potential were compared between baseline and last visit using the Wilcoxon signed-rank test. Age at death or permanent ventilation was compared with natural history using the log-rank test. The study is registered at ClinicalTrials.gov, number NCT01839656., Findings: 20 participants were enrolled between May 3, 2013, and July 9, 2014, and assessed through to an interim analysis done on Jan 26, 2016. All participants experienced adverse events, with 77 serious adverse events reported in 16 participants, all considered by study investigators not related or unlikely related to the study drug. In the 12 mg dose group, incremental achievements of motor milestones (p<0·0001), improvements in CHOP-INTEND motor function scores (p=0·0013), and increased compound muscle action potential amplitude of the ulnar nerve (p=0·0103) and peroneal nerve (p<0·0001), compared with baseline, were observed. Median age at death or permanent ventilation was not reached and the Kaplan-Meier survival curve diverged from a published natural history case series (p=0·0014). Analysis of autopsy tissue from patients exposed to nusinersen showed drug uptake into motor neurons throughout the spinal cord and neurons and other cell types in the brainstem and other brain regions, exposure at therapeutic concentrations, and increased SMN2 mRNA exon 7 inclusion and SMN protein concentrations in the spinal cord., Interpretation: Administration of multiple intrathecal doses of nusinersen showed acceptable safety and tolerability, pharmacology consistent with its intended mechanism of action, and encouraging clinical efficacy. Results informed the design of an ongoing, sham-controlled, phase 3 clinical study of nusinersen in infantile-onset spinal muscular atrophy., Funding: Ionis Pharmaceuticals, Inc and Biogen., (Copyright © 2016 Elsevier Ltd. All rights reserved.)
- Published
- 2016
- Full Text
- View/download PDF
33. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
- Author
-
Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, and Gleeson JG
- Subjects
- Amino Acid Sequence, Basement Membrane metabolism, Brain abnormalities, Brain diagnostic imaging, Carrier Proteins metabolism, Cerebellum abnormalities, Cerebellum diagnostic imaging, Cobblestone Lissencephaly diagnostic imaging, Developmental Disabilities diagnostic imaging, Developmental Disabilities genetics, Dystroglycans metabolism, Eye Abnormalities diagnostic imaging, Eye Abnormalities genetics, Female, Humans, Infant, Male, Membrane Proteins metabolism, Mutation, Nervous System Malformations diagnostic imaging, Nervous System Malformations genetics, Neuroglia metabolism, Neurons pathology, Pedigree, Phenotype, Alleles, Carrier Proteins genetics, Cobblestone Lissencephaly genetics, Membrane Proteins genetics
- Abstract
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan. Our screening of a cohort of 25 families with recessive forms of COB identified six families affected by biallelic mutations in TMTC3 (encoding transmembrane and tetratricopeptide repeat containing 3), a gene without obvious functional connections to alpha-dystroglycan. Most affected individuals showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly. However, the minority of the affected individuals had eye defects or elevated muscle creatine phosphokinase, separating the TMTC3 COB phenotype from typical congenital muscular dystrophies. Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement., (Copyright © 2016. Published by Elsevier Inc.)
- Published
- 2016
- Full Text
- View/download PDF
34. Response.
- Author
-
Chrestian N and Vajsar J
- Published
- 2016
- Full Text
- View/download PDF
35. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.
- Author
-
Chrestian N, McMillan H, Poulin C, Campbell C, and Vajsar J
- Subjects
- Adolescent, Arthrogryposis genetics, Arthrogryposis physiopathology, Child, Child, Preschool, Female, Gene Deletion, Hereditary Sensory and Motor Neuropathy genetics, Hereditary Sensory and Motor Neuropathy physiopathology, Humans, Male, Myelin Proteins genetics, Neural Conduction, Arthrogryposis diagnosis, Hereditary Sensory and Motor Neuropathy diagnosis
- Abstract
Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a rare condition in childhood with a diverse range of clinical presentations. We analyzed the clinical presentation and electrophysiological data of 12 children with a confirmed PMP22 gene deletion and reviewed the published reports of HNPP in children and compared our data with the reports from the literature review. Peroneal palsy was the most common presentation (42%) followed by brachial plexus palsy in 25% of our cases. Nerve conduction studies were always suggestive of the diagnosis demonstrating 3 major patterns: multifocal demyelination at the area of entrapment, generalized sensory-motor polyneuropathy and a combination of the two first patterns in a vast majority (60%). Surprisingly, there was bilateral or unilateral electrophysiological entrapment of the median nerve at the carpal tunnel in all our patients. The clinical presentation of HNPP in childhood is heterogeneous and electrophysiological findings are helpful in establishing the diagnosis. Any unexplained mononeuropathy or multifocal neuropathy should lead to PMP22 gene testing to look for the deletion. Early diagnosis is important in order to facilitate appropriate genetic counseling and also for the appropriate care for these patients., (Copyright © 2015 Elsevier B.V. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
36. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
- Author
-
Kava M, Chitayat D, Blaser S, Ray PN, and Vajsar J
- Subjects
- Brain pathology, Eye Diseases, Hereditary etiology, Eye Diseases, Hereditary genetics, Fluorescein Angiography, Humans, Infant, Magnetic Resonance Imaging, Male, Pentosyltransferases, Brain abnormalities, Cleft Lip genetics, Cleft Lip physiopathology, Cleft Palate genetics, Cleft Palate physiopathology, Ectodermal Dysplasia genetics, Ectodermal Dysplasia physiopathology, Mutation genetics, Proteins genetics
- Abstract
Background: Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination., Objectives: We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutin-related protein gene mutation., Methodology: All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient., Conclusions: Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement., (Copyright © 2013 Elsevier Inc. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
37. Clinical characteristics of pediatric myasthenia: a surveillance study.
- Author
-
VanderPluym J, Vajsar J, Jacob FD, Mah JK, Grenier D, and Kolski H
- Subjects
- Adolescent, Canada epidemiology, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Myasthenia Gravis diagnosis, Myasthenia Gravis epidemiology, Population Surveillance methods
- Abstract
Objective: To evaluate the incidence, clinical features, diagnostic, and treatment trends of pediatric myasthenia in Canada., Methods: Through established Canadian Pediatric Surveillance Program methodology, physicians were anonymously surveyed for cases of pediatric myasthenia using a standardized clinical questionnaire containing deidentified data. Inclusion criteria were any child <18 years old with ≥1 of the following: (1) fluctuating ptosis or extraocular weakness, (2) skeletal muscle weakness or fatigue, and (3) any of the following supportive tests: clinical response to acetylcholinesterase inhibitor, positive antibodies, abnormal slow repetitive nerve stimulation, or single-fiber electromyography., Results: In 2 years of surveillance, 57 confirmed cases were reported. There were 34 generalized and 18 ocular reports of juvenile myasthenia gravis plus 5 congenital myasthenic syndrome cases. There were 14 incident cases in 2010 and 6 in 2011. Age of onset ranged from "birth" to 17 years for the generalized form compared with 18 months to 11 years for the ocular subtype. Positive acetylcholine receptor titers were found in 22 (67%) of 33 generalized cases and 8 (44%) of 18 ocular patients. Of patients started on pyridostigmine, improvement was noted in 33 (100%) of 33 generalized cases and 15 (88%) of 17 ocular cases., Conclusions: This study represents the largest descriptive series of pediatric myasthenia in North America and provides valuable information about clinical characteristics. A high index of suspicion is important for this treatable disease. Children generally respond promptly to readily available therapies.
- Published
- 2013
- Full Text
- View/download PDF
38. Efficacy and safety of thoracoscopic thymectomy in the treatment of juvenile myasthenia gravis.
- Author
-
Christison-Lagay E, Dharia B, Vajsar J, and Kim PC
- Subjects
- Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Length of Stay trends, Male, Postoperative Period, Retrospective Studies, Time Factors, Treatment Outcome, Myasthenia Gravis surgery, Thoracoscopy methods, Thymectomy methods
- Abstract
Background: Thymectomy is a well-established treatment for generalized myasthenia gravis in adults, but predictors of long-term efficacy and the optimum timing for intervention in juvenile myasthenia remain controversial., Purpose: To review the preoperative presentation, surgical experience, and long-term neuromuscular follow-up in patients undergoing thoracoscopic thymectomy in a single institution., Methods: A retrospective chart review of all patients undergoing thoracoscopic thymectomy for myasthenia gravis at a tertiary referral center between 2000 and 2010 and compared to an historical cohort of trans-sternal thymectomies performed between 1970 and 1995. Age at diagnosis, presurgical medications and hospitalizations, preoperative chest imaging, presence of acetylcholinesterase antibodies, Osserman Stage, time to operative intervention, length of follow-up, DeFillipi remission scale, as well as operative and post-operative data (length of surgery, blood loss, need for chest tube, length of intubation, length of hospital stay, pathology, and complications) were recorded., Results: Fifteen patients undergoing thoracoscopic thymectomy were identified with a mean age of 11.3 years at time of diagnosis and average treatment duration of 12.5 months prior to operative intervention. Of these patients, most presented with Osserman Stage IIB (8) or III (5) disease. Two patients presented with Osserman Stage IIa disease. There were no reported complications, no conversions to an open approach, and an average length of stay of 2.6 days. Average length of follow-up was 37.5 months, available on 13 of 15 patients. Nine of 13 (69 %) were improved (DeFillippi Class 2 or 3) at 1-month follow-up, however, the pattern of remission waxed and waned, with only 50 % reporting improvement at 1 year, 86 % at 2 years and 75 % at 3 years. Only one patient was totally off medication. No patients required postoperative hospitalization for respiratory crisis., Conclusions: Thoracoscopic thymectomy offers a safe approach to thymic resection in children with JMG with little associated morbidity and a short hospital stay, but should not be considered curative. Rather it appears to make generalized JMG more amenable to long-term medical management.
- Published
- 2013
- Full Text
- View/download PDF
39. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Author
-
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, and Campbell KP
- Subjects
- Cells, Cultured, Fibroblasts cytology, Fibroblasts metabolism, Genetic Complementation Test, Glycosylation, Humans, Infant, Laminin metabolism, Mannosyltransferases genetics, Polysaccharides metabolism, Skin cytology, Skin metabolism, Dystroglycans metabolism, Mannose metabolism, Mannosyltransferases metabolism, Mutation genetics, Nucleotidyltransferases genetics, Walker-Warburg Syndrome genetics
- Abstract
Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect in laminin-binding glycan synthesis1. Although mutations in six genes have been identified as causes of WWS, only half of all individuals with the disease can currently be diagnosed on this basis2. A cell fusion complementation assay in fibroblasts from undiagnosed individuals with WWS was used to identify five new complementation groups. Further evaluation of one group by linkage analysis and targeted sequencing identified recessive mutations in the ISPD gene (encoding isoprenoid synthase domain containing). The pathogenicity of the identified ISPD mutations was shown by complementation of fibroblasts with wild-type ISPD. Finally, we show that recessive mutations in ISPD abolish the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation. This establishes a new mechanism for WWS pathophysiology.
- Published
- 2012
- Full Text
- View/download PDF
40. Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.
- Author
-
Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, and Vajsar J
- Subjects
- Brain pathology, Creatine Kinase blood, Dystroglycans metabolism, Electromyography, Genetic Testing, Glycosylation, Humans, Infant, Laminin metabolism, Male, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Muscular Dystrophies pathology, Muscular Dystrophies physiopathology, Phenotype, Mannosyltransferases genetics, Muscular Dystrophies genetics, Mutation
- Abstract
Introduction: Congenital muscular dystrophies (CMD) with hypoglycosylated α-dystroglycan due to POMT1 mutations are associated with clinical phenotypes that vary in severity., Methods: We describe a patient with congenital hypotonia, generalized weakness, elevated creatine kinase (CK), and normal brain imaging., Results: Histochemical analysis of the index case's muscle showed deficiency of glycosylated α-dystroglycan and secondary merosin deficiency. Genetic testing revealed a novel mutation in exon 20 of the POMT1 gene., Conclusions: Our patient's milder form of CMD adds to the emerging evidence of an expanding phenotype caused by POMT1 mutations. The histopathological findings of the muscle biopsy in this case support the need for careful clinical, genetic, and histochemical diagnostic interpretation., (Copyright © 2012 Wiley Periodicals, Inc.)
- Published
- 2012
- Full Text
- View/download PDF
41. Consensus statement on standard of care for congenital muscular dystrophies.
- Author
-
Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, and Zeller R
- Subjects
- Child, Child, Preschool, Congresses as Topic trends, Female, Humans, Male, Muscular Dystrophies congenital, Clinical Protocols standards, Global Health, International Cooperation, Muscular Dystrophies diagnosis, Muscular Dystrophies therapy, Standard of Care standards
- Abstract
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee., Competing Interests: Declaration of Conflicting Interests The authors declared no potential conflicts of interest with respect to the authorship and/or publication of this article.
- Published
- 2010
- Full Text
- View/download PDF
42. Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease.
- Author
-
Katz SL, Gaboury I, Keilty K, Banwell B, Vajsar J, Anderson P, Ni A, and Maclusky I
- Subjects
- Adolescent, Carbon Dioxide physiology, Child, Disease Progression, Epidemiologic Methods, Female, Forced Expiratory Volume, Humans, Hypoventilation physiopathology, Male, Muscle Strength physiology, Neuromuscular Diseases physiopathology, Polysomnography methods, Prognosis, Quality of Life, Respiratory Function Tests, Scoliosis complications, Vital Capacity, Hypoventilation etiology, Neuromuscular Diseases complications
- Abstract
Objectives: To determine: (a) prevalence of clinically unsuspected nocturnal hypoventilation (NH) in a clinic population of children with progressive neuromuscular disease; (b) whether NH can be predicted from clinical/laboratory parameters; and (c) change over 1 year in pulmonary function decline, quality of life and attention in children with NH treated with non-invasive positive pressure ventilation (NPPV) compared with children without NH., Design: Prospective cohort study., Setting: Two tertiary-care paediatric neuromuscular clinics., Patients: 46 children (6-17 years) with progressive neuromuscular disease without neurocognitive impairment or dystrophinopathy., Interventions: Polysomnography, pulmonary function, manual muscle strength, quality of life (CHQ-PF50) and Conners questionnaires., Outcome Measures: (a) Prevalence of NH; (b) predictive value of surrogate clinical measures for NH; and (c) differences in change over 1 year in pulmonary function, muscle strength, quality of life and attention between children with and without NH., Results: Prevalence of NH was 14.8%, 95% CI 8.0% to 25.7%. Maximal sensitivity and specificity for NH were achieved with thresholds of forced vital capacity <70% and forced expiratory volume in 1 s <65% predicted (sensitivities: 71.4, 71.4; specificities: 64.1, 79.5). Scoliosis also predicted NH (sensitivity 88.9; specificity 80.4). Over 1 year, those with NH had a greater increase in residual volume/total lung capacity (0.075 (-0.003 to 0.168) vs -0.03 (-0.065 to 0.028)), decline in muscle strength (-0.67 (-0.90 to 0.10) vs 0.53 (-0.05 to 0.90)) and worsened perception of health status., Conclusions: 15% of subjects had clinically unsuspected NH, predicted by moderate pulmonary function test impairment and scoliosis. Over 1 year those with NH had increased gas trapping, decline of muscle strength and worse perception of health status, despite NPPV.
- Published
- 2010
- Full Text
- View/download PDF
43. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
- Author
-
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, and Vajsar J
- Subjects
- Biopsy standards, Child, Preschool, DNA Mutational Analysis, Diagnosis, Differential, Fatal Outcome, Humans, Male, Muscle Fibers, Skeletal metabolism, Muscle Weakness genetics, Muscle, Skeletal physiopathology, Muscular Diseases physiopathology, Respiration, Artificial, Respiratory Paralysis genetics, Sarcolemma metabolism, Sarcolemma pathology, Actinin genetics, Genetic Predisposition to Disease genetics, Muscle Fibers, Skeletal pathology, Muscle, Skeletal pathology, Muscular Diseases genetics, Muscular Diseases pathology
- Abstract
Cap myopathy is a congenital myopathy with cap-like structures under the sarcolemma. Mutations in TPM2 and TPM3 genes have been reported in cap myopathy so far. We report a newborn boy with persistent profound weakness who required gastro-jejunal tube feeding, tracheostomy and life-long ventilation until he died at 5 years of age. Muscle biopsy at 5 weeks of age was uninformative. Repeat biopsy at 4.5 years revealed subsarcolemmally located caps that were immunopositive for alpha-actinin, actin and to some extent, desmin. EM confirmed loosely arranged thin filaments and paucity of thick filaments. Molecular analysis of ACTA1 gene identified a novel de novo Met49Val [corrected] mutation. In addition to a new ACTA1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness., (Copyright 2010 Elsevier B.V. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF
44. Paediatric myasthenia: A moving target.
- Author
-
Kolski H, Vajsar J, and Grenier D
- Published
- 2010
- Full Text
- View/download PDF
45. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
- Author
-
Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, and Ray PN
- Subjects
- Brain pathology, Cleft Lip pathology, Cleft Palate pathology, DNA genetics, Fatal Outcome, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation genetics, Mutation physiology, Myotonic Dystrophy complications, Syndrome, Cleft Lip genetics, Cleft Palate genetics, Mannosyltransferases genetics, Myotonic Dystrophy genetics
- Abstract
Walker-Warburg Syndrome (WWS) is an alpha-dystroglycan deficient congenital muscular dystrophy that is associated with brain and eye abnormalities. Patients present with hypotonia, weakness, developmental delay, mental retardation and occasional seizures. Other abnormalities were also described including cleft lip and palate. Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS. We report a novel mutation in POMT1 gene and provide further evidence that WWS with cleft lip and palate is associated with POMT1 mutations. We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first.
- Published
- 2008
- Full Text
- View/download PDF
46. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.
- Author
-
Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, and Vajsar J
- Subjects
- Adolescent, Blotting, Western, Child, Humans, Male, Muscular Dystrophies, Limb-Girdle genetics, Muscular Dystrophies, Limb-Girdle physiopathology, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Calpain metabolism, Immunohistochemistry, Muscle Proteins metabolism, Muscular Dystrophies, Limb-Girdle diagnosis
- Abstract
The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical techniques to support a diagnosis of LGMD 2A. This approach is straightforward and appears to be reasonably specific. We propose that immunohistochemical methods should be re-evaluated for the screening of undiagnosed patients with suspected LGMD 2A.
- Published
- 2008
- Full Text
- View/download PDF
47. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
- Author
-
Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, and Muntoni F
- Subjects
- Alleles, Blotting, Western, Child, DNA Mutational Analysis, Dystroglycans metabolism, Fibroblasts enzymology, Genetic Testing, Humans, Immunohistochemistry, Kinetics, Male, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Muscular Dystrophies, Limb-Girdle complications, Muscular Dystrophies, Limb-Girdle psychology, Mutation, Mutation, Missense genetics, Myopia etiology, Phenotype, Muscular Dystrophies, Limb-Girdle genetics, N-Acetylglucosaminyltransferases genetics
- Abstract
Background: Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation., Objective: To investigate whether mutations in POMGnT1 could be responsible for milder allelic variants of muscular dystrophy., Design: Screening for mutations in POMGnT1., Setting: Tertiary neuromuscular unit., Patient: A patient with limb-girdle muscular dystrophy phenotype, with onset at 12 years of age, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle., Results: A homozygous POMGnT1 missense mutation (c.1666G>A, p.Asp556Asn) was identified. Enzyme studies of the patient's fibroblasts showed an altered kinetic profile, less marked than in patients with muscle-eye-brain disease and in keeping with the relatively mild phenotype in our patient., Conclusions: Our findings widen the spectrum of disorders known to result from mutations in POMGnT1 to include limb-girdle muscular dystrophy with no mental retardation. We propose that this condition be known as LGMD2M. The enzyme assay used to diagnose muscle-eye-brain disease may not detect subtle abnormalities of POMGnT1 function, and additional kinetic studies must be carried out in such cases.
- Published
- 2008
- Full Text
- View/download PDF
48. Enterostomy tube placement in children with spinal muscular atrophy type 1.
- Author
-
Sy K, Mahant S, Taback N, Vajsar J, Chait PG, and Friedman JN
- Subjects
- Humans, Infant, Postoperative Complications epidemiology, Retrospective Studies, Enteral Nutrition adverse effects, Enteral Nutrition instrumentation, Enterostomy adverse effects, Enterostomy instrumentation, Spinal Muscular Atrophies of Childhood therapy
- Abstract
Objective: To determine the major complication rate in the first 30 days after enterostomy tube insertion in infants with spinal muscular atrophy (SMA) type 1., Study Design: A retrospective case review of all children with SMA type 1 who had a gastrostomy or gastrojejunostomy tube placed by the image-guided technique at the Hospital for Sick Children from 1994-2004. Major complications were classified as peritonitis, aspiration pneumonia, respiratory failure, nonelective admission to the pediatric intensive care unit, and death., Results: Twelve children were identified as having SMA type 1 with an enterostomy tube insertion. The median age at tube insertion was 6.1 months (range 2.2 to 15.8 months). Major complications in the first 30 days after the procedure included aspiration pneumonia (5/12 patients [41.6%]), respiratory failure requiring admission to the pediatric intensive care unit (4/12 [33%]), and death (2/12 [16.7%]). Children with development of aspiration pneumonia were significantly older at time of tube insertion (P < .05) than those with no aspiration., Conclusions: Major complications including death are seen in children with SMA type 1 in the first 30 days after enterostomy tube insertion.
- Published
- 2006
- Full Text
- View/download PDF
49. Walker-Warburg syndrome.
- Author
-
Vajsar J and Schachter H
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple therapy, Child, Preschool, Dystrophin genetics, Eye Abnormalities diagnosis, Eye Abnormalities therapy, Female, Glycoproteins genetics, Humans, Infant, Infant, Newborn, Muscular Dystrophies diagnosis, Muscular Dystrophies therapy, Mutation, Pregnancy, Prenatal Diagnosis methods, Prognosis, Syndrome, Abnormalities, Multiple genetics, Brain abnormalities, Eye Abnormalities genetics, Mannosyltransferases genetics, Muscular Dystrophies congenital, Muscular Dystrophies genetics
- Abstract
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and congenital muscular dystrophy characterized by hypoglycosylation of alpha-dystroglycan. Several genes have been implicated in the etiology of WWS, and others are as yet unknown. Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered alpha-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive.
- Published
- 2006
- Full Text
- View/download PDF
50. A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
- Author
-
Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, and Christodoulou K
- Subjects
- Charcot-Marie-Tooth Disease physiopathology, Chromosomes, Human, Pair 8, DNA Mutational Analysis, Female, Genetic Linkage, Humans, Iran, Molecular Sequence Data, Nerve Tissue Proteins metabolism, Pedigree, Charcot-Marie-Tooth Disease genetics, Genes, Recessive genetics, Mutation, Nerve Tissue Proteins genetics
- Abstract
Background: Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been identified in association with the demyelinating AR-CMT disease. We hereby report our clinical and molecular genetic findings in a consanguineous family with AR-CMT., Methods: Two young sisters with AR-CMT and other non-affected family members were clinically and electrophysiologically evaluated and then molecular genetic investigation was carried out in order to identify the pathogenic mutation., Results: Following an initial indication for linkage of the family to the CMT4A locus on chromosome 8, we sequenced the Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene and identified a single nucleotide deletion in exon 3 that is associated with AR-CMT in the family., Conclusions: We identified a novel GDAP1 439delA mutation that is associated with AR-CMT in a consanguineous family of Iranian descent with two affected young girls and a history in other members of the family.
- Published
- 2006
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.