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Items: 11

1.

Genetic and laboratory diagnostic approach in Niemann Pick disease type C.

McKay Bounford K, Gissen P.

J Neurol. 2014 Sep;261 Suppl 2:S569-75. doi: 10.1007/s00415-014-7386-8. Review.

2.

Chapter 15: disease gene prioritization.

Bromberg Y.

PLoS Comput Biol. 2013 Apr;9(4):e1002902. doi: 10.1371/journal.pcbi.1002902.

3.

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

Zampieri S, Bembi B, Rosso N, Filocamo M, Dardis A.

JIMD Rep. 2012;2:59-69. doi: 10.1007/8904_2011_49.

4.

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD.

Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193.

5.

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice.

Pressey SN, Smith DA, Wong AM, Platt FM, Cooper JD.

Neurobiol Dis. 2012 Mar;45(3):1086-100. doi: 10.1016/j.nbd.2011.12.027.

6.

Niemann-Pick disease type C.

Vanier MT.

Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Review.

7.

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT.

Am J Hum Genet. 2001 Nov;69(5):1013-21.

8.

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K.

Am J Hum Genet. 2001 Jun;68(6):1361-72.

9.
10.

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.

Millat G, Marçais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT.

Am J Hum Genet. 1999 Nov;65(5):1321-9.

11.

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

Greer WL, Dobson MJ, Girouard GS, Byers DM, Riddell DC, Neumann PE.

Am J Hum Genet. 1999 Nov;65(5):1252-60.

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