المؤلفون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann KH, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, McAlister, L, McCabe, A, McKie, M, McMahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S

المساهمون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M

مصطلحات موضوعية: Niemann-Pick disease type C, Miglustat, Registry

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/26017010; info:eu-repo/semantics/altIdentifier/wos/WOS:000355918100001; volume:10; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11365/979373; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84931039342; http://www.ojrd.com/content/10/1/65

الاتاحة: http://hdl.handle.net/11365/979373
https://doi.org/10.1186/s13023-015-0284-z
http://www.ojrd.com/content/10/1/65

المؤلفون: Schmidt E. M., Schmid E., Münzer P., Hermann A., Eyrich A. K., Russo A., Walker B., Gu S., Müller Vom Hagen J., Schaller M., Föller M., Schöls L., Gawaz M., Borst O., Storch A., Stournaras C., Lang F., FAGGIO, Caterina

المساهمون: Schmidt E.M., Schmid E., Münzer P., Hermann A., Eyrich A.K., Russo A., Walker B., Gu S., Müller Vom Hagen J., Faggio C., Schaller M., Föller M., Schöls L., Gawaz M., Borst O., Storch A., Stournaras C., Lang F.

مصطلحات موضوعية: chorea-acanthocytosis, PI3K, VAMP8,aggregation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23568775; info:eu-repo/semantics/altIdentifier/wos/WOS:000328841000028; volume:27; firstpage:2799; lastpage:2806; numberofpages:8; journal:THE FASEB JOURNAL; http://hdl.handle.net/11570/2514451; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84879657554

الاتاحة: http://hdl.handle.net/11570/2514451
https://doi.org/10.1096/fj.13-229286

المؤلفون: Muller vom Hagen, J., Synofzik, M., Schicks, J., Krageloh-Mann, I., Schols, L.

المصدر: Neurology ; volume 78, issue Meeting Abstracts 1, page P05.020-P05.020 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.78.1_meetingabstracts.p05.020
https://journals.lww.com/10.1212/WNL.78.1_MeetingAbstracts.P05.020

المؤلفون: Müller vom Hagen, J., Schöls, L.

المصدر: Angeborene Stoffwechselkrankheiten bei Erwachsenen; 2014, p87-100, 14p

المؤلفون: Müller vom Hagen, J.^1,2, Karle, K. N.^1,2, Schüle, R.^1,2, Krägeloh ‐ Mann, I.^2,3, Schöls, L.^1,2

المصدر: European Journal of Neurology. Jul2014, Vol. 21 Issue 7, p983-988. 6p.

مصطلحات موضوعية: *LEUKODYSTROPHY, *PHENOTYPES, *GLOBOID cell leukodystrophy, *GANGLIOSIDES, *MAGNETIC resonance imaging, *ADRENOLEUKODYSTROPHY