The natural history of Niemann–Pick disease type C in the UK
Imrie, J., Dasgupta, S., Besley, G. T. N., Harris, C., Heptinstall, L., Knight, S., Vanier, M. T., Fensom, A. H., Ward, C., Jacklin, E., Whitehouse, C., Wraith, J. E.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
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Non-neuronopathic Gaucher disease due to saposin C deficiency
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Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale
Iturriaga, C., Pineda, M., Fernández-Valero, E.M., Vanier, M.T., Coll, M.J.
Published in Journal of the neurological sciences (01.11.2006)
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Identification of HE1 as the Second Gene of Niemann-Pick C Disease
Naureckiene, Saule, David. E. Sleat, Lackland, Henry, Fensom, Anthony, Vanier, Marie T., Wattiaux, Robert, Jadot, Michel, Lobel, Peter
Published in Science (American Association for the Advancement of Science) (22.12.2000)
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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations
Fernandez-Valero, EM, Ballart, A, Iturriaga, C, Lluch, M, Macias, J, Vanier, MT, Pineda, M, Coll, MJ
Published in Clinical genetics (01.09.2005)
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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia
Timmons, M, Tsokos, M, Asab, M Abu, Seminara, S B, Zirzow, G C, Kaneski, C R, Heiss, J D, van der Knaap, M S, Vanier, M T, Schiffmann, R, Wong, K
Published in Neurology (12.12.2006)
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Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer
SEVIN, C, VEROT, L, AUBOURG, P, CARTIER, N, BENRAISS, A, VAN DAM, D, BONNIN, D, NAGELS, G, FOUQUET, F, GIESELMANN, V, VANIER, M. T, DE DEYN, P. P
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Perinatal-lethal Gaucher disease
Mignot, C., Gelot, A., Bessières, B., Daffos, F., Voyer, M., Menez, F., Fallet Bianco, C., Odent, S., Le Duff, D., Loget, P., Fargier, P., Costil, J., Josset, P., Roume, J., Vanier, MT, Maire, I., Billette de Villemeur, T.
Published in American journal of medical genetics. Part A (30.07.2003)
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Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2
Modica, S, Morgano, A, Salvatore, L, Petruzzelli, M, Vanier, M-T, Valanzano, R, Esposito, D L, Palasciano, G, Duluc, I, Freund, J-N, Mariani-Costantini, R, Moschetta, A
Published in Gut (01.09.2009)
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Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)
Mochel, F., Sedel, F., Vanderver, A., Engelke, U. F. H., Barritault, J., Yang, B. Z., Kulkarni, B., Adams, D. R., Clot, F., Ding, J. H., Kaneski, C. R., Verheijen, F. W., Smits, B. W., Seguin, F., Brice, A., Vanier, M. T., Huizing, M., Schiffmann, R., Durr, A., Wevers, R. A.
Published in Brain (London, England : 1878) (01.03.2009)
Published in Brain (London, England : 1878) (01.03.2009)
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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island
Mavridou, I., Cozar, M., Douzgou, S., Xaidara, A., Lianou, D., Vanier, M.T., Dimitriou, E., Grinberg, D., Vilageliu, L., Michelakakis, H.
Published in Clinical genetics (01.06.2014)
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Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study
Pavlů‐Pereira, H., Asfaw, B., Poupčtová, H., Ledvinová, J., Sikora, J., Vanier, M. T., Sandhoff, K., Zeman, J., Novotná, Z., Chudoba, D., Elleder, M.
Published in Journal of inherited metabolic disease (01.01.2005)
Published in Journal of inherited metabolic disease (01.01.2005)
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The adult form of Niemann–Pick disease type C
Sévin, Mathieu, Lesca, Gaëtan, Baumann, Nicole, Millat, Gilles, Lyon-Caen, Olivier, Vanier, Marie T., Sedel, Frédéric
Published in Brain (London, England : 1878) (01.01.2007)
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
Krivit, William, Shapiro, Elsa G, Peters, Charles, Wagner, John E, Cornu, Guy, Kurtzberg, Joanne, Wenger, David A, Kolodny, Edwin H, Vanier, Marie T, Loes, Daniel J, Dusenbery, Kathryn, Lockman, Lawrence A
Published in The New England journal of medicine (16.04.1998)
Published in The New England journal of medicine (16.04.1998)
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Targeted Disruption of the Mouse Sphingolipid Activator Protein Gene: A Complex Phenotype, Including Severe Leukodystrophy and Wide-Spread Storage of Multiple Sphingolipids
Fujita, Nobuya, Suzuki, Kinuko, Vanier, Marie T., Popko, Brian, Maeda, Nobuyo, Klein, Andreas, Henseler, Margarete, Sandhoff, Konrad, Nakayasu, Hiroyuki, Suzuki, Kunihiko
Published in Human molecular genetics (01.06.1996)
Published in Human molecular genetics (01.06.1996)
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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
Ribeiro, I, Marcão, A, Amaral, O, Sá Miranda, M C, Vanier, M T, Millat, G
Published in Human genetics (01.07.2001)
Published in Human genetics (01.07.2001)
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