Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 119

1.

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
2.

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]
3.

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR.

Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4.

PMID:
22326530
[PubMed - indexed for MEDLINE]
4.

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, Pinotti E, Corsolini F, Fecarotta S, D'Amico A, Di Rocco M, Uziel G, Calandra S, Bembi B, Filocamo M.

Neurogenetics. 2009 Jul;10(3):229-39. doi: 10.1007/s10048-009-0175-3. Epub 2009 Feb 28.

PMID:
19252935
[PubMed - indexed for MEDLINE]
5.

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K.

Hum Mutat. 2003 Oct;22(4):313-25.

PMID:
12955717
[PubMed - indexed for MEDLINE]
6.

[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
[PubMed - indexed for MEDLINE]
7.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

PMID:
22676771
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

Dvorakova L, Sikora J, Hrebicek M, Hulkova H, Bouckova M, Stolnaja L, Elleder M.

J Inherit Metab Dis. 2006 Aug;29(4):591. Epub 2006 Jun 26.

PMID:
16802107
[PubMed - indexed for MEDLINE]
9.

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. Epub 2001 May 9.

PMID:
11349231
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Error occurred: cannot get document summary

PMID:
25238906

11.

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. Epub 2001 Sep 20.

PMID:
11567215
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G.

Clin Genet. 2007 Apr;71(4):320-30.

PMID:
17470133
[PubMed - indexed for MEDLINE]
13.

NPC-db, a Niemann-Pick type C disease gene variation database.

Runz H, Dolle D, Schlitter AM, Zschocke J.

Hum Mutat. 2008 Mar;29(3):345-50.

PMID:
18081003
[PubMed - indexed for MEDLINE]
14.

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):220-32.

PMID:
16126423
[PubMed - indexed for MEDLINE]
15.

Niemann-Pick disease type C: analysis of 7 patients.

Xiong H, Bao XH, Zhang YH, Xu YN, Qin J, Shi HP, Wu XR.

World J Pediatr. 2012 Feb;8(1):61-6. doi: 10.1007/s12519-011-0284-6. Epub 2011 Jun 1.

PMID:
21633862
[PubMed - indexed for MEDLINE]
16.

The adult form of Niemann-Pick disease type C.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.

Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review.

PMID:
17003072
[PubMed - indexed for MEDLINE]
Free Article
17.

Niemann-Pick disease type C.

Vanier MT.

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

PMID:
20525256
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group.

Clin Genet. 2011 Jul;80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6.

PMID:
20718790
[PubMed - indexed for MEDLINE]
19.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Maue RA, Burgess RW, Wang B, Wooley CM, Seburn KL, Vanier MT, Rogers MA, Chang CC, Chang TY, Harris BT, Graber DJ, Penatti CA, Porter DM, Szwergold BS, Henderson LP, Totenhagen JW, Trouard TP, Borbon IA, Erickson RP.

Hum Mol Genet. 2012 Feb 15;21(4):730-50. doi: 10.1093/hmg/ddr505. Epub 2011 Nov 2.

PMID:
22048958
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.

Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Nanba E, Hosokawa M, Enokido Y, Kouchi Z, Yoshida F, Shimada A.

Neuropathology. 2014 Feb;34(1):49-57. doi: 10.1111/neup.12047. Epub 2013 May 27.

PMID:
23711246
[PubMed - in process]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk