Late onset Krabbe's leukodystrophy: a report of four cases.

Por Phelps, M, Aicardi, J, Vanier, M T
Publicado em 1991

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

Por Vanier, M. T., Duthel, S., Rodriguez-Lafrasse, C., Pentchev, P., Carstea, E. D.
Publicado em 1996

Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts.

Por Rodriguez-Lafrasse, C, Rousson, R, Valla, S, Antignac, P, Louisot, P, Vanier, M T
Publicado em 1997

Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.

Por Ferlinz, K, Hurwitz, R, Weiler, M, Suzuki, K, Sandhoff, K, Vanier, M T
Publicado em 1995

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.

Por Henseler, M., Klein, A., Reber, M., Vanier, M. T., Landrieu, P., Sandhoff, K.
Publicado em 1996

Niemann–Pick type C disease in a 68‐year‐old patient

Por Trendelenburg, G, Vanier, M T, Maza, S, Millat, G, Bohner, G, Munz, D L, Zschenderlein, R
Publicado em 2006

Adult Niemann-Pick disease type C mimicking features of multiple sclerosis

Por GRAU, A., BRANDT, T., WEISBROD, M., NIETHAMMER, R., FORSTING, M., CANTZ, M., VANIER, M., HARZER, K.
Publicado em 1997

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.

Por Pentchev, P G, Comly, M E, Kruth, H S, Vanier, M T, Wenger, D A, Patel, S, Brady, R O
Publicado em 1985

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

Por YAMAMOTO, T., NINOMIYA, H., MATSUMOTO, M., OHTA, Y., NANBA, E., TSUTSUMI, Y., YAMAKAWA, K., MILLAT, G., VANIER, M., PENTCHEV, P., OHNO, K.
Publicado em 2000

The neurobehavioural rating scale-revised: sensitivity and validity in closed head injury assessment

Por McCauley, S, Levin, H, Vanier, M, Mazaux, J, Boake, C, Goldfader, P, Rockers, D, Butters, M, Kareken, D, Lambert, J, Clifton, G
Publicado em 2001

Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts.

Por Butler, J D, Comly, M E, Kruth, H S, Vanier, M, Filling-Katz, M, Fink, J, Barton, N, Weintroub, H, Quirk, J M, Tokoro, T
Publicado em 1987

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosome...

Por Blanchette-Mackie, E J, Dwyer, N K, Amende, L M, Kruth, H S, Butler, J D, Sokol, J, Comly, M E, Vanier, M T, August, J T, Brady, R O
Publicado em 1988

Linkage of Niemann-Pick disease type C to human chromosome 18.

Por Carstea, E D, Polymeropoulos, M H, Parker, C C, Detera-Wadleigh, S D, O'Neill, R R, Patterson, M C, Goldin, E, Xiao, H, Straub, R E, Vanier, M T
Publicado em 1993

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Por 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.
Publicado em 2006

Intracisternal Cyclodextrin Prevents Cerebellar Dysfunction and Purkinje Cell Death in Feline Niemann-Pick type C1 disease

Por Vite, C. H., Bagel, J. H., Swain, G. P., Prociuk, M., Sikora, T. U., Stein, V. M., O’Donnell, P., Ruane, T., Ward, S., Crooks, A., Li, S., Mauldin, E., Stellar, S., De Meulder, M., Kao, M. L., Ory, D. S., Davidson, C., Vanier, M. T., Walkley, S. U.
Publicado no Sci Transl Med (2015)

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Por 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.
Publicado em 2009

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options

Por Ludolph, A. C., Kassubek, J., Landwehrmeyer, B. G., Mandelkow, E., Mandelkow, E.-M., Burn, D. J., Caparros-Lefebvre, D., Frey, K. A., de Yebenes, J. G., Gasser, T., Heutink, P., Höglinger, G., Jamrozik, Z., Jellinger, K. A., Kazantsev, A., Kretzschmar, H., Lang, A. E., Litvan, I., Lucas, J. J., McGeer, P. L., Melquist, S., Oertel, W., Otto, M., Paviour, D., Reum, T., Saint-Raymond, A., Steele, J. C., Tolnay, M., Tumani, H., van Swieten, J. C., Vanier, M. T., Vonsattel, J.-P., Wagner, S., Wszolek, Z. K.
Publicado em 2009