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Year Number of Results
2002 1
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2006 5
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2008 7
2009 6
2010 5
2011 3
2012 6
2013 6
2014 3
2015 5
2016 3
2017 6
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78 results

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Page 1
Niemann-Pick disease type C.
Vanier MT. Vanier MT. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Orphanet J Rare Dis. 2010. PMID: 20525256 Free PMC article. Review.
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
Niemann-Pick diseases.
Vanier MT. Vanier MT. Handb Clin Neurol. 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. Handb Clin Neurol. 2013. PMID: 23622394 Review.
Secondary lipid accumulation in lysosomal disease.
Walkley SU, Vanier MT. Walkley SU, et al. Among authors: vanier mt. Biochim Biophys Acta. 2009 Apr;1793(4):726-36. doi: 10.1016/j.bbamcr.2008.11.014. Epub 2008 Dec 9. Biochim Biophys Acta. 2009. PMID: 19111580 Free PMC article. Review.
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article.
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.
Cuinat S, Rollier P, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Levade T, Vanier MT, Lion Francois L, Chemaly N, de Lattre C, Moreau C, Paquot A, Beghyn T, de Masfrand S, Bézieau S, Mercier S, Boespflug-Tanguy O. Cuinat S, et al. Among authors: vanier mt. Neurol Genet. 2025 Feb 26;11(2):e200243. doi: 10.1212/NXG.0000000000200243. eCollection 2025 Apr. Neurol Genet. 2025. PMID: 40017560 Free PMC article.
Structure and function of the NPC2 protein.
Vanier MT, Millat G. Vanier MT, et al. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):14-21. doi: 10.1016/j.bbalip.2004.08.007. Biochim Biophys Acta. 2004. PMID: 15465422 Review.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Patterson MC, et al. Among authors: vanier mt. Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Neurol Clin Pract. 2017. PMID: 29431164 Free PMC article. Review.
78 results