Niemann-Pick disease type C von Vanier, MT, Millat, G

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Identification of HE1 as the Second Gene of Niemann-Pick C Disease von Naureckiene, Saule, David. E. Sleat, Lackland, Henry, Fensom, Anthony, Vanier, Marie T., Wattiaux, Robert, Jadot, Michel, Lobel, Peter

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The adult form of Niemann–Pick disease type C von Sévin, Mathieu, Lesca, Gaëtan, Baumann, Nicole, Millat, Gilles, Lyon-Caen, Olivier, Vanier, Marie T., Sedel, Frédéric

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Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale von Iturriaga, C., Pineda, M., Fernández-Valero, E.M., Vanier, M.T., Coll, M.J.

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Non-neuronopathic Gaucher disease due to saposin C deficiency von Tylki-Szymańska, A, Czartoryska, B, Vanier, M-T, Poorthuis, BJMH, Groener, JAE, Ługowska, A, Millat, G, Vaccaro, AM, Jurkiewicz, E

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Combination of Phenotype Assessments and CYP2C9‐VKORC1 Polymorphisms in the Determination of Warfarin Dose Requirements in Heavily Medicated Patients von Michaud, V, Vanier, M‐C, Brouillette, D, Roy, D, Verret, L, Noel, N, Taillon, I, O‧Hara, G, Gossard, D, Champagne, M, Goodman, K, Renaud, Y, Brown, A, Phillips, M, Ajami, AM, Turgeon, J

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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia von TIMMONS, M, TSOKOS, M, WONG, K, ABU ASAB, M, SEMINARA, S. B, ZIRZOW, G. C, KANESKI, C. R, HEISS, J. D, VAN DER KNAAP, M. S, VANIER, M. T, SCHIFFMANN, R

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations von Fernandez-Valero, EM, Ballart, A, Iturriaga, C, Lluch, M, Macias, J, Vanier, MT, Pineda, M, Coll, MJ

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The natural history of Niemann–Pick disease type C in the UK von 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.

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Genetic Evidence for Nonredundant Functional Cooperativity between NPC1 and NPC2 in Lipid Transport von Sleat, David E., Wiseman, Jennifer A., El-Banna, Mukarram, Price, Sandy M., Verot, Lucie, Shen, Michael M., Tint, G. Stephen, Vanier, Marie T., Walkley, Steven U., Lobel, Peter, Scott, Matthew P.

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Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting von Vaccaro, Anna M., Motta, Marialetizia, Tatti, Massimo, Scarpa, Susanna, Masuelli, Laura, Bhat, Meenakshi, Vanier, Marie T., Tylki-Szymanska, Anna, Salvioli, Rosa

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Lipid changes in Niemann-Pick disease type C brain : Personal experience and review of the literature von VANIER, M. T

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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island von Mavridou, I., Cozar, M., Douzgou, S., Xaidara, A., Lianou, D., Vanier, M.T., Dimitriou, E., Grinberg, D., Vilageliu, L., Michelakakis, H.

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Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2 von Verot, L, Chikh, K, Freydière, E, Honoré, R, Vanier, MT, Millat, G

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Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer von Sevin, C, Verot, L, Benraiss, A, Van Dam, D, Bonnin, D, Nagels, G, Fouquet, F, Gieselmann, V, Vanier, M T, De Deyn, P P, Aubourg, P, Cartier, N

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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy von 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

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Perinatal-lethal Gaucher disease von 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.

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Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases von Lidove, O, Belmatoug, N, Froissart, R, Lavigne, C, Durieu, I, Mazodier, K, Serratrice, C, Douillard, C, Goizet, C, Cathebras, P, Besson, G, Amoura, Z, Tazi, A, Gatfossé, M, Rivière, S, Sené, T, Vanier, M T, Ziza, J-M

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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 von 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

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update von Patterson, Marc C., Hendriksz, Christian J., Walterfang, Mark, Sedel, Frederic, Vanier, Marie T., Wijburg, Frits

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