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Items: 10

1.

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Wang C, Scott SM, Subramanian K, Loguercio S, Zhao P, Hutt DM, Farhat NY, Porter FD, Balch WE.

Nat Commun. 2019 Nov 7;10(1):5052. doi: 10.1038/s41467-019-12969-x.

PMID:
31699992
2.

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.

Bianconi SE, Hammond DI, Farhat NY, Dang Do A, Jenkins K, Cougnoux A, Martin K, Porter FD.

Mol Genet Metab. 2019 Apr;126(4):466-469. doi: 10.1016/j.ymgme.2019.02.004. Epub 2019 Feb 15.

PMID:
30850267
3.

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS.

Mol Genet Metab. 2019 Feb;126(2):183-187. doi: 10.1016/j.ymgme.2018.08.007. Epub 2018 Aug 24.

PMID:
30172462
4.

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.

Cougnoux A, Drummond RA, Collar AL, Iben JR, Salman A, Westgarth H, Wassif CA, Cawley NX, Farhat NY, Ozato K, Lionakis MS, Porter FD.

Hum Mol Genet. 2018 Jun 15;27(12):2076-2089. doi: 10.1093/hmg/ddy112.

5.

Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model.

Cougnoux A, Movassaghi M, Picache JA, Iben JR, Navid F, Salman A, Martin K, Farhat NY, Cluzeau C, Tseng WC, Burkert K, Sojka C, Wassif CA, Cawley NX, Bonnet R, Porter FD.

Dig Dis Sci. 2018 Apr;63(4):870-880. doi: 10.1007/s10620-018-4914-x. Epub 2018 Jan 22.

6.

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.

Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.

7.

Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS.

Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326.

8.

Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.

Thurm A, Farmer C, Farhat NY, Wiggs E, Black D, Porter FD.

Dev Med Child Neurol. 2016 Mar;58(3):262-9. doi: 10.1111/dmcn.12970. Epub 2015 Nov 19.

9.

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.

Maarup TJ, Chen AH, Porter FD, Farhat NY, Ory DS, Sidhu R, Jiang X, Dickson PI.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):75-9. doi: 10.1016/j.ymgme.2015.07.001. Epub 2015 Jul 15.

10.

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid.

Sidhu R, Jiang H, Farhat NY, Carrillo-Carrasco N, Woolery M, Ottinger E, Porter FD, Schaffer JE, Ory DS, Jiang X.

J Lipid Res. 2015 Jun;56(6):1222-33. doi: 10.1194/jlr.D058487. Epub 2015 Apr 12.

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