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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 2
1972 3
1973 4
1974 3
1975 4
1977 1
1978 6
1979 2
1980 3
1981 3
1983 6
1984 1
1985 3
1986 4
1987 2
1988 4
1989 3
1990 3
1991 11
1992 5
1993 7
1994 4
1995 4
1996 3
1997 7
1998 9
1999 11
2000 8
2001 9
2002 2
2003 5
2004 7
2005 10
2006 11
2007 9
2008 8
2009 9
2010 6
2011 4
2012 7
2013 7
2014 4
2015 5
2016 4
2017 7
2018 3
2019 1
2020 3
2021 1
Text availability
Article attribute
Article type
Publication date

Search Results

230 results
Results by year
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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.
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.
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. Review.
Niemann-Pick disease type C.
Vanier MT, Millat G. Vanier MT, et al. Clin Genet. 2003 Oct;64(4):269-81. doi: 10.1034/j.1399-0004.2003.00147.x. Clin Genet. 2003. PMID: 12974729 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.
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Musalkova D, Majer F, Kuchar L, Luksan O, Asfaw B, Vlaskova H, Storkanova G, Reboun M, Poupetova H, Jahnova H, Hulkova H, Ledvinova J, Dvorakova L, Sikora J, Jirsa M, Vanier MT, Hrebicek M. Musalkova D, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2020 Apr 5;15(1):85. doi: 10.1186/s13023-020-01360-5. Orphanet J Rare Dis. 2020. PMID: 32248828 Free PMC article.
230 results
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