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Lipid changes in Niemann-Pick disease type C brain : Personal experience and review of the literatureVANIER, M. T.Neurochemical research. 1999, Vol 24, Num 4, pp 481-489, issn 0364-3190Article

Niemann-Pick disease type CVANIER, M. T; MILLAT, G.Clinical genetics. 2003, Vol 64, Num 4, pp 269-281, issn 0009-9163, 13 p.Article

Les sphingolipidoses: actualisation du diagnostic biochimique. Nouvelles approches pathogéniques = Recent progress in diagnosis and pathogenesis of the sphingolipidosesVANIER, M. T; ROUSSON, R.Annales de biologie clinique (Paris). 1988, Vol 46, Num 7, pp 461-468, issn 0003-3898, 6 p.Conference Paper

Biochemical and molecular aspects of late-onset GM2-gangliosides : B1 variant as a prototypeSUZUKI, K; VANIER, M. T.Developmental neuroscience. 1991, Vol 13, Num 4-5, pp 288-294, issn 0378-5866Article

Characterization of a 67 kDa microtubule-binding protein in the pancreas from different speciesMICHALIK, L; VANIER, M.-T; LAUNAY, J.-F et al.Biochimica et biophysica acta (G). General subjects. 1992, Vol 1116, Num 3, pp 269-273, issn 0304-4165Article

Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a fœtus at 12 weeks of developmentVANIER, M. T; BOUE, J; DUMEZ, Y et al.Clinical genetics. 1985, Vol 28, Num 4, pp 348-354, issn 0009-9163Article

Sphingosylphosphorylcholine in Niemann-Pick disease brain : Accumulation in type A but not in type BRODRIGUEZ-LAFRASSE, C; VANIER, M. T.Neurochemical research. 1999, Vol 24, Num 2, pp 199-205, issn 0364-3190Article

Microtubule affinity chromatography : a new technique for isolating microtubule-binding proteins form rat pancreasMICHALIK, L; VANIER, M.-T; LAUNAY, J.-F et al.Cellular and molecular biology. 1991, Vol 37, Num 8, pp 805-811, issn 0145-5680Article

Late onset Krabbe's leukodystrophy : a report of four casesPHELPS, M; AICARDI, J; VANIER, M.-T et al.Journal of neurology, neurosurgery and psychiatry. 1991, Vol 54, Num 4, pp 293-296, issn 0022-3050, 4 p.Article

Glyceraldehyde-3-phosphate dehydrogenase is a microtubule binding protein in a human colon tumor cell lineLAUNAY, J. F; ABDELJELIL JELLALI; VANIER, M. T et al.Biochimica et biophysica acta. 1989, Vol 996, Num 1-2, pp 103-109, issn 0006-3002Article

In vitro assembly of rat pancreas tubulin in the presence of taxolVANIER, M-.T; LAUNEY, J.-F.Biochimica et biophysica acta. 1986, Vol 871, Num 1, pp 72-77, issn 0006-3002Article

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontiaTIMMONS, M; TSOKOS, M; WONG, K et al.Neurology. 2006, Vol 67, Num 11, pp 2066-2069, issn 0028-3878, 4 p.Article

Gangliosidose a GM2 variant B1 révélation à l'adolescence par une atteinte isolée et plurisystématisée du système nerveux central et périphérique = GM2-Gangliosidosis Variant B1: A family with late juvenile onsetLE COZ, P; ASSOULINE, E; VANIER, M. T et al.Revue neurologique (Paris). 1994, Vol 150, Num 1, pp 61-66, issn 0035-3787Article

Type C Niemann-Pick disease: a parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblastsPENTCHEV, P. G; KRUTH, H. S; COMLY, M. E et al.The Journal of biological chemistry (Print). 1986, Vol 261, Num 35, pp 16775-16780, issn 0021-9258Article

Type C Niemann-Pick disease: abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblastsKRUTH, H. S; COMLY, M. E; BUTLER, J. D et al.The Journal of biological chemistry (Print). 1986, Vol 261, Num 35, pp 16769-16774, issn 0021-9258Article

Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C)MARTIN, J. J; LOWENTHAL, A; CEUTERICK, C et al.Journal of the neurological sciences. 1984, Vol 66, Num 1, pp 33-45, issn 0022-510XArticle

Perinatal-lethal Gaucher diseaseMIGNOT, C; GELOT, A; FARGIER, P et al.American journal of medical genetics. 2003, Vol 120A, Num 3, pp 338-344, issn 0148-7299, 7 p.Article

Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation groupSCHOFER, O; MISCHO, B; PÜSCHEL, W et al.European journal of pediatrics. 1998, Vol 157, Num 1, pp 45-49, issn 0340-6199Article

Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disordersRODRIGUEZ-LAFRASSE, C; ROUSSON, R; PENTCHEV, P. G et al.Biochimica et biophysica acta. Molecular basis of disease. 1994, Vol 1226, Num 2, pp 138-144, issn 0925-4439Article

Histiocytes bleu de mer dans une maladie de Niemann-Pick de type B de l'adulte chez un enfant tunisien = Sea blue histiocytes in a case of Niemann-Pick disease B in a tunisian childTOUMI, N. H; MONTALGI, M. A; BEN ACHOUR, M et al.Revue de pédiatrie (Paris). 1991, Vol 27, Num 1, pp 32-34, issn 0035-1644Article

Niemann-Pick disease type C : an updateVANIER, M. T; PENTCHEV, P; RODRIGUEZ-LAFRASSE, C et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 4, pp 580-595, issn 0141-8955Conference Paper

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomesBLANCHETTE-MACKIE, E. J; DWYER, N. K; PENTCHEV, P. G et al.Proceedings of the National Academy of Sciences of the United States of America. 1988, Vol 85, Num 21, pp 8022-8026, issn 0027-8424Article

Biochemical studies in Niemann-Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the diseaseVANIER, M. T; ROUSSON, R; GARCIA, I et al.Clinical genetics. 1985, Vol 27, Num 1, pp 20-32, issn 0009-9163Article

Niemann-Pick C disease : cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosisDEBROHUN BUTLER, J; VANIER, M. T; PENTCHEV, P. G et al.Biochemical and biophysical research communications (Print). 1993, Vol 196, Num 1, pp 154-159, issn 0006-291XArticle

Presence of immunoreactive material in Niemann-Pick type A placenta using anti-sphingomyelinase rabbit gammaglobulinsROUSSON, R; BONNET, J; LOUISOT, P et al.Biochimica et biophysica acta. 1987, Vol 924, Num 3, pp 502-508, issn 0006-3002Article

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