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Results: 1 to 20 of 59

1.

Donepezil enhances Purkinje cell survival and alleviates motor dysfunction by inhibiting cholesterol synthesis in a murine model of Niemann Pick disease type C.

Seo Y, Shin Y, Kim HS, Kang I, Hong IS, Choi SW, Yu KR, Kang KS.

J Neuropathol Exp Neurol. 2014 Mar;73(3):234-43. doi: 10.1097/NEN.0000000000000045.

PMID:
24487798
[PubMed - indexed for MEDLINE]
2.

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM.

Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14.

PMID:
24235134
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA.

Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Review.

PMID:
24135395
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Inner macular hyperreflectivity demonstrated by optical coherence tomography in niemann-pick disease.

Rudich DS, Curcio CA, Wasserstein M, Brodie SE.

JAMA Ophthalmol. 2013 Sep;131(9):1244-6. doi: 10.1001/jamaophthalmol.2013.2374. No abstract available.

PMID:
24030340
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.

Takamura A, Sakai N, Shinpoo M, Noguchi A, Takahashi T, Matsuda S, Yamamoto M, Narita A, Ohno K, Ohashi T, Ida H, Eto Y.

Mol Genet Metab. 2013 Nov;110(3):401-4. doi: 10.1016/j.ymgme.2013.08.006. Epub 2013 Aug 17.

PMID:
24001525
[PubMed - indexed for MEDLINE]
6.

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

Ginocchio VM, D'Amico A, Bertini E, Ceravolo F, Dardis A, Verrigni D, Bembi B, Dionisi-Vici C, Deodato F.

Mol Genet Metab. 2013 Nov;110(3):329-35. doi: 10.1016/j.ymgme.2013.07.019. Epub 2013 Aug 7.

PMID:
23973268
[PubMed - indexed for MEDLINE]
7.

Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C.

Lopez ME, Scott MP.

Dis Model Mech. 2013 Sep;6(5):1089-100. doi: 10.1242/dmm.012385. Epub 2013 Aug 1. Review.

PMID:
23907005
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Niemann-Pick type C: a potentially treatable disorder?

Kheder A, Scott C, Olpin S, Hadjivassiliou M.

Pract Neurol. 2013 Dec;13(6):382-5. doi: 10.1136/practneurol-2013-000525. Epub 2013 Aug 1.

PMID:
23906593
[PubMed - indexed for MEDLINE]
9.

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Rodriguez-Gil JL, Larson DM, Wassif CA, Yanjanin NM, Anderson SM, Kirby MR, Trivedi NS, Porter FD, Pavan WJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):188-90. doi: 10.1016/j.ymgme.2013.06.010. Epub 2013 Jun 21.

PMID:
23850077
[PubMed - indexed for MEDLINE]
10.

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):139-44. doi: 10.1016/j.ymgme.2013.05.019. Epub 2013 Jun 6.

PMID:
23791309
[PubMed - indexed for MEDLINE]
11.

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.

Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16.

PMID:
23773996
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Fu R, Wassif CA, Yanjanin NM, Watkins-Chow DE, Baxter LL, Incao A, Liscum L, Sidhu R, Firnkes S, Graham M, Ory DS, Porter FD, Pavan WJ.

Hum Mol Genet. 2013 Sep 1;22(17):3508-23. doi: 10.1093/hmg/ddt206. Epub 2013 May 10.

PMID:
23666527
[PubMed - indexed for MEDLINE]
13.

Niemann-Pick diseases.

Vanier MT.

Handb Clin Neurol. 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. Review.

PMID:
23622394
[PubMed - indexed for MEDLINE]
14.

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F.

Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22.

PMID:
23618813
[PubMed - indexed for MEDLINE]
15.

A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.

Jamrozik Z, Szczudlik P, Lugowska A, Weiß S, Rolfs A, Czartoryska B, Kwieciński H.

Neurol Neurochir Pol. 2013 Jan-Feb;47(1):86-9.

PMID:
23487299
[PubMed - indexed for MEDLINE]
16.

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, Mengel E, Fischer C, Runz H.

Orphanet J Rare Dis. 2013 Feb 22;8:35. doi: 10.1186/1750-1172-8-35.

PMID:
23433426
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Morbidity and mortality in type B Niemann-Pick disease.

McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.

Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4. Epub 2013 Feb 14.

PMID:
23412609
[PubMed - indexed for MEDLINE]
18.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X.

Orphanet J Rare Dis. 2013 Jan 28;8:15. doi: 10.1186/1750-1172-8-15.

PMID:
23356216
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Disease and patient characteristics in NP-C patients: findings from an international disease registry.

Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M.

Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. Erratum in: Orphanet J Rare Dis. 2013;8:73.

PMID:
23324478
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Niemann-Pick disease type A presenting as unilateral tremors.

Vykuntaraju KN, Lokanatha H, Shivananda.

Indian Pediatr. 2012 Nov;49(11):919-20.

PMID:
23255701
[PubMed - indexed for MEDLINE]
Free Article

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