M. Vanier

发表

Are animal models useful for understanding the pathophysiology of lysosomal storage disease?

J. Matsuda, K. Suzuki, T. Ezoe, 2003, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.

M. Schröder, K. Suzuki, Kinuko Suzuki, 1997, Human molecular genetics.

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

J. Matsuda, J. Tohyama, K. Suzuki, 2001, Human molecular genetics.

Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease

K. Suzuki, Y. Oya, T. Ezoe, 1999, Journal of Inherited Metabolic Disease.

Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

G. Millat, M. Vanier, M. Vanier, 2007, Clinical genetics.

Identification of 25 new mutations in 40 unrelated Spanish Niemann‐Pick type C patients: genotype‐phenotype correlations

C. Iturriaga, M. Pineda, M. Vanier, 2005, Clinical genetics.

Perinatal‐lethal Gaucher disease

P. Josset, J. Roume, A. Gelot, 2003, American Journal of Medical Genetics. Part A.

Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island

S. Douzgou, D. Grinberg, L. Vilageliu, 2014, Clinical genetics.

Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.

J. Matsuda, K. Suzuki, M. Vanier, 2001, Human molecular genetics.

Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).

J. Matsuda, K. Suzuki, T. Ezoe, 2000, Human molecular genetics.

Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.

K. Suzuki, M. Vanier, 1991, Developmental neuroscience.

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

J. Lucas, K. Frey, B. Landwehrmeyer, 2009, European journal of neurology.

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

N. Maeda, K. Sandhoff, B. Popko, 1996, Human molecular genetics.

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.

M. Fanselow, H. Z. Zhao, K. Lyons, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.

R. Proia, R. Wada, K. Suzuki, 2000, Human molecular genetics.

Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant

F. Sanmartí, M. Pineda, I. Ferrer, 1999, Acta Neuropathologica.

Induced mouse models of abnormal sphingolipid metabolism.

M. Vanier, K. Suzuki, 1998, Journal of biochemistry.

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

J. Lucas, K. Frey, B. Landwehrmeyer, 2009, European journal of neurology.