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Items: 1 to 20 of 100

1.

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger EA, Austin CP, Porter FD, Vite CH, Ory DS.

Orphanet J Rare Dis. 2016 Dec 1;11(1):161.

2.

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.

Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, Brewster M, Scott I, Xu X, Cradock J, Terse P, Dehdashti SJ, Marugan J, Zheng W, Portilla L, Hubbs A, Pavan WJ, Heiss J, Vite CH, Walkley SU, Ory DS, Silber SA, Porter FD, Austin CP, McKew JC.

Curr Top Med Chem. 2014;14(3):330-9. Review.

3.

[Adult onset Niemann-Pick type C disease and psychosis: literature review].

Maubert A, Hanon C, Metton JP.

Encephale. 2013 Oct;39(5):315-9. doi: 10.1016/j.encep.2013.04.013. Epub 2013 Aug 5. Review. French.

PMID:
23928063
4.

[Niemann-Pick type C disease and psychosis: Two siblings].

Maubert A, Hanon C, Metton JP.

Encephale. 2015 Jun;41(3):238-43. doi: 10.1016/j.encep.2014.08.007. Epub 2014 Sep 18. French.

PMID:
25238906
5.

Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy.

Yu D, Swaroop M, Wang M, Baxa U, Yang R, Yan Y, Coksaygan T, DeTolla L, Marugan JJ, Austin CP, McKew JC, Gong DW, Zheng W.

J Biomol Screen. 2014 Sep;19(8):1164-73. doi: 10.1177/1087057114537378. Epub 2014 Jun 6.

6.
7.

Cyclodextrin-Based Macromolecular Systems as Cholesterol-Mopping Therapeutic Agents in Niemann-Pick Disease Type C.

Puglisi A, Yagci Y.

Macromol Rapid Commun. 2019 Jan;40(1):e1800557. doi: 10.1002/marc.201800557. Epub 2018 Sep 14. Review.

PMID:
30216584
8.

Effects of cyclodextrin in two patients with Niemann-Pick Type C disease.

Matsuo M, Togawa M, Hirabaru K, Mochinaga S, Narita A, Adachi M, Egashira M, Irie T, Ohno K.

Mol Genet Metab. 2013 Jan;108(1):76-81. doi: 10.1016/j.ymgme.2012.11.005. Epub 2012 Nov 15.

PMID:
23218948
9.

Early miglustat therapy in infantile Niemann-Pick disease type C.

Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A.

Pediatr Neurol. 2012 Jul;47(1):40-3. doi: 10.1016/j.pediatrneurol.2012.04.005.

PMID:
22704015
10.

[Psychiatric disorders in adult form of Niemann-Pick disease type C].

Maubert A, Hanon C, Sedel F.

Encephale. 2016 Jun;42(3):208-13. doi: 10.1016/j.encep.2015.11.003. Epub 2015 Dec 23. French.

PMID:
26727648
11.

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Degtyareva AV, Mikhailova SV, Zakharova EY, Tumanova EL, Puchkova AA.

J Med Case Rep. 2016 Jun 1;10(1):143. doi: 10.1186/s13256-016-0925-4.

12.

In vitro evaluation of 2-hydroxyalkylated β-cyclodextrins as potential therapeutic agents for Niemann-Pick Type C disease.

Kondo Y, Tokumaru H, Ishitsuka Y, Matsumoto T, Taguchi M, Motoyama K, Higashi T, Arima H, Matsuo M, Higaki K, Ohno K, Irie T.

Mol Genet Metab. 2016 Jul;118(3):214-9. doi: 10.1016/j.ymgme.2016.04.014. Epub 2016 Apr 30. Erratum in: Mol Genet Metab. 2017 Mar;120(3):296-297.

PMID:
27184436
13.

Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.

Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I.

Eur J Paediatr Neurol. 2014 Jan;18(1):75-8. doi: 10.1016/j.ejpn.2013.08.002. Epub 2013 Oct 1.

PMID:
24119781
14.

Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann-Pick Type C1 mice.

Hovakimyan M, Maass F, Petersen J, Holzmann C, Witt M, Lukas J, Frech MJ, Hübner R, Rolfs A, Wree A.

Neuroscience. 2013 Nov 12;252:201-11. doi: 10.1016/j.neuroscience.2013.08.001. Epub 2013 Aug 13.

PMID:
23948640
15.

Miglustat therapy in a case of early-infantile Niemann-Pick type C.

Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H.

Brain Dev. 2017 Nov;39(10):886-890. doi: 10.1016/j.braindev.2017.05.006. Epub 2017 Jun 3.

PMID:
28587793
16.

Neuronal gene repression in Niemann-Pick type C models is mediated by the c-Abl/HDAC2 signaling pathway.

Contreras PS, Gonzalez-Zuñiga M, González-Hódar L, Yáñez MJ, Dulcey A, Marugan J, Seto E, Alvarez AR, Zanlungo S.

Biochim Biophys Acta. 2016 Feb;1859(2):269-79. doi: 10.1016/j.bbagrm.2015.11.006. Epub 2015 Nov 19.

17.

The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.

Maceyka M, Milstien S, Spiegel S.

FEBS J. 2013 Dec;280(24):6367-72. doi: 10.1111/febs.12505. Epub 2013 Sep 23. Review.

18.

Immune dysfunction in Niemann-Pick disease type C.

Platt N, Speak AO, Colaco A, Gray J, Smith DA, Williams IM, Wallom KL, Platt FM.

J Neurochem. 2016 Jan;136 Suppl 1:74-80. doi: 10.1111/jnc.13138. Epub 2015 Jun 4. Review.

19.

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.

Masingue M, Adanyeguh I, Nadjar Y, Sedel F, Galanaud D, Mochel F.

Orphanet J Rare Dis. 2017 Feb 2;12(1):22. doi: 10.1186/s13023-017-0579-3.

20.

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK.

Dai S, Dulcey AE, Hu X, Wassif CA, Porter FD, Austin CP, Ory DS, Marugan J, Zheng W.

Autophagy. 2017 Aug 3;13(8):1435-1451. doi: 10.1080/15548627.2017.1329081. Epub 2017 Jun 14.

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