Gangliosidosis in Emus (Dromaius novaehollandiae)

Autor: Bermudez, A. J., Johnson, G. C., Vanier, M. T., Schröder, M., Suzuki, K., Stogsdill, P. L., Johnson, G. S., O'Brien, D., Moore, C. P., Fry, W. W.

Publikováno v: Avian Diseases, 1995 Apr 01. 39(2), 292-303.

Externí odkaz: https://www.jstor.org/stable/1591870

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study

Autor: 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

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10(1):65. BioMed Central

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd7081ec1efa0869586839008ff46d7
http://hdl.handle.net/11588/636258

Expression of specific tau exons in normal and tumoral pancreatic acinar cells

Autor: Vanier, M. -T, Neuville, P., Liliane Michalik, Launay, J. -F

Publikováno v: Scopus-Elsevier

Tau is a neuron-specific microtubule-associated protein (MAP) that is required for the development and maintaining neuronal cell polarity. Tau is encoded by a single gene, while its transcript undergoes a complex and regulated alternative splicing. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeadb48cfcadbaff92ea531596f9d6bd
https://doi.org/10.1242/jcs.111.10.1419

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.

Autor: Sriretnakumar V; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada., Harripaul R; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Institute of Medical Science, University of Toronto, Toronto, Canada., Kennedy JL; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada., So J; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada.; Department of Medicine, University of Toronto, Toronto, Canada.; Division of Medical Genetics, Departments of Medicine and Pediatrics, University of California, San Francisco, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63609. Date of Electronic Publication: 2024 Mar 26.

Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

Autor: Christoumanou, H., Vanier, M. T., Santambrogio, P., Arosio, Paolo, Kleijer, W. J., Harzer, K.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3662::4b01cee9768e55f1c14c0c2317b07219
http://hdl.handle.net/11379/48323