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 | 1768 | 1997 |
Niemann-Pick disease type C MT Vanier Orphanet journal of rare diseases 5, 1-18, 2010 | 1278 | 2010 |
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 | 995 | 2000 |
Niemann–Pick disease type C MT Vanier, G Millat Clinical genetics 64 (4), 269-281, 2003 | 770 | 2003 |
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 | 548 | 2012 |
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 | 528 | 2009 |
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 | 495 | 1985 |
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 | 471 | 2007 |
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 | 435 | 1999 |
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 | 418 | 2004 |
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 | 369 | 1998 |
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 | 299 | 2009 |
Complex lipid trafficking in Niemann-Pick disease type C MT Vanier Journal of inherited metabolic disease 38, 187-199, 2015 | 277 | 2015 |
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 | 268 | 1996 |
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 | 265 | 2018 |
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 | 265 | 1991 |
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 | 256 | 1999 |
Secondary lipid accumulation in lysosomal disease SU Walkley, MT Vanier Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1793 (4), 726-736, 2009 | 247 | 2009 |
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 | 245 | 1999 |
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 | 243 | 1987 |