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marie t vanier
marie t vanier
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Verified email at inserm.fr
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Cited by
Year
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
ED Carstea, JA Morris, KG Coleman, SK Loftus, D Zhang, C Cummings, ...
Science 277 (5323), 228-231, 1997
17651997
Niemann-Pick disease type C
MT Vanier
Orphanet journal of rare diseases 5, 1-18, 2010
12762010
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene, DE Sleat, H Lackland, A Fensom, MT Vanier, R Wattiaux, ...
Science 290 (5500), 2298-2301, 2000
9952000
Niemann–Pick disease type C
MT Vanier, G Millat
Clinical genetics 64 (4), 269-281, 2003
7682003
Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update
MC Patterson, CJ Hendriksz, M Walterfang, F Sedel, MT Vanier, F Wijburg, ...
Molecular genetics and metabolism 106 (3), 330-344, 2012
5482012
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression
CD Davidson, NF Ali, MC Micsenyi, G Stephney, S Renault, K Dobrenis, ...
PloS one 4 (9), e6951, 2009
5282009
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
PG Pentchev, ME Comly, HS Kruth, MT Vanier, DA Wenger, S Patel, ...
Proceedings of the National Academy of Sciences 82 (23), 8247-8251, 1985
4951985
The adult form of Niemann–Pick disease type C
M Sévin, G Lesca, N Baumann, G Millat, O Lyon-Caen, MT Vanier, ...
Brain 130 (1), 120-133, 2007
4712007
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
EB Neufeld, M Wastney, S Patel, S Suresh, AM Cooney, NK Dwyer, ...
Journal of Biological Chemistry 274 (14), 9627-9635, 1999
4351999
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport
DE Sleat, JA Wiseman, M El-Banna, SM Price, L Verot, MM Shen, GS Tint, ...
Proceedings of the National Academy of Sciences 101 (16), 5886-5891, 2004
4182004
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy
W Krivit, EG Shapiro, C Peters, JE Wagner, G Cornu, J Kurtzberg, ...
New England Journal of Medicine 338 (16), 1119-1127, 1998
3691998
Recommendations on the diagnosis and management of Niemann-Pick disease type C
JE Wraith, MR Baumgartner, B Bembi, A Covanis, T Levade, E Mengel, ...
Molecular genetics and metabolism 98 (1-2), 152-165, 2009
2992009
Complex lipid trafficking in Niemann-Pick disease type C
MT Vanier
Journal of inherited metabolic disease 38, 187-199, 2015
2772015
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
MT Vanier, S Duthel, C Rodriguez-Lafrasse, P Pentchev, ED Carstea
American journal of human genetics 58 (1), 118, 1996
2681996
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
MT Vanier, C Rodriguez-Lafrasse, R Rousson, N Gazzah, MC Juge, ...
Biochimica Et Biophysica Acta (BBA)-Molecular Basis of Disease 1096 (4), 328-337, 1991
2651991
Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ...
Orphanet journal of rare diseases 13, 1-19, 2018
2642018
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
G Millat, C Marçais, MA Rafi, T Yamamoto, JA Morris, PG Pentchev, ...
The American Journal of Human Genetics 65 (5), 1321-1329, 1999
2551999
Secondary lipid accumulation in lysosomal disease
SU Walkley, MT Vanier
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1793 (4), 726-736, 2009
2472009
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase
HH Li, WH Yu, N Rozengurt, HZ Zhao, KM Lyons, S Anagnostaras, ...
Proceedings of the National Academy of Sciences 96 (25), 14505-14510, 1999
2451999
Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts
PG Pentchev, ME Comly, HS Kruth, T Tokoro, J Butler, J Sokol, ...
The FASEB journal 1 (1), 40-45, 1987
2431987
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