94 related articles for article (PubMed ID: 10068514)
1. Complementation studies in human and feline Niemann-Pick type C disease.
Somers KL; Wenger DA; Royals MA; Carstea ED; Connally HE; Kelly T; Kimball R; Thrall MA
Mol Genet Metab; 1999 Feb; 66(2):117-21. PubMed ID: 10068514
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.
Vanier MT
Wien Klin Wochenschr; 1997 Feb; 109(3):68-73. PubMed ID: 9060145
[TBL] [Abstract][Full Text] [Related]
3. Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
Tamura H; Takahashi T; Ban N; Torisu H; Ninomiya H; Takada G; Inagaki N
Mol Genet Metab; 2006 Feb; 87(2):113-21. PubMed ID: 16143556
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of feline Niemann-Pick C1 disease.
Somers KL; Royals MA; Carstea ED; Rafi MA; Wenger DA; Thrall MA
Mol Genet Metab; 2003 Jun; 79(2):99-103. PubMed ID: 12809639
[TBL] [Abstract][Full Text] [Related]
5. Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.
Chikh K; Vey S; Simonot C; Vanier MT; Millat G
Mol Genet Metab; 2004 Nov; 83(3):220-30. PubMed ID: 15542393
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 12955717
[TBL] [Abstract][Full Text] [Related]
7. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.
Patterson MC
Neurologist; 2003 Nov; 9(6):301-10. PubMed ID: 14629784
[TBL] [Abstract][Full Text] [Related]
8. Spatial and temporal distribution of intracellular free cholesterol in brains of a Niemann-Pick type C mouse model showing hyperphosphorylated tau protein. Implications for Alzheimer's disease.
Treiber-Held S; Distl R; Meske V; Albert F; Ohm TG
J Pathol; 2003 May; 200(1):95-103. PubMed ID: 12692847
[TBL] [Abstract][Full Text] [Related]
9. Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
Wassif CA; Vied D; Tsokos M; Connor WE; Steiner RD; Porter FD
Mol Genet Metab; 2002 Apr; 75(4):325-34. PubMed ID: 12051964
[TBL] [Abstract][Full Text] [Related]
10. [Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].
Wakida K; Matsuyama Z; Suzuki Y; Sawada M; Tsurumi H; Kimura A; Hayashi Y; Hashizume T; Hozumi I; Inuzuka T
No To Shinkei; 2004 Dec; 56(12):1047-53. PubMed ID: 15729883
[TBL] [Abstract][Full Text] [Related]
11. Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type C.
Deisz RA; Meske V; Treiber-Held S; Albert F; Ohm TG
Neuroscience; 2005; 130(4):867-73. PubMed ID: 15652985
[TBL] [Abstract][Full Text] [Related]
12. 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; 86(1-2):220-32. PubMed ID: 16126423
[TBL] [Abstract][Full Text] [Related]
13. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K; Rodriguez C; Vey S; Vanier MT; Millat G
Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
[TBL] [Abstract][Full Text] [Related]
14. Increased expression of caveolin-1 in heterozygous Niemann-Pick type II human fibroblasts.
Garver WS; Hsu SC; Erickson RP; Greer WL; Byers DM; Heidenreich RA
Biochem Biophys Res Commun; 1997 Jul; 236(1):189-93. PubMed ID: 9223450
[TBL] [Abstract][Full Text] [Related]
15. Limiting the Niemann-Pick type C critical region to a 1-cM interval.
Gillan TL; Byers DM; Riddell DC; Neumann PE; Greer WL
Clin Invest Med; 1997 Oct; 20(5):339-43. PubMed ID: 9336659
[TBL] [Abstract][Full Text] [Related]
16. Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group.
Christomanou H; Vanier MT; Santambrogio P; Arosio P; Kleijer WJ; Harzer K
Mol Genet Metab; 2000 Jul; 70(3):196-202. PubMed ID: 10924274
[TBL] [Abstract][Full Text] [Related]
17. Filipin test for diagnosis of Niemann-Pick disease type C.
Ledvinová J; Elleder M
Sb Lek; 1993; 94(2):137-43. PubMed ID: 7992006
[TBL] [Abstract][Full Text] [Related]
18. Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease.
Paul CA; Reid PC; Boegle AK; Karten B; Zhang M; Jiang ZG; Franz D; Lin L; Chang TY; Vance JE; Blanchette-Mackie J; Maue RA
J Neurosci Res; 2005 Sep; 81(5):706-19. PubMed ID: 16015597
[TBL] [Abstract][Full Text] [Related]
19. A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C.
Akaboshi S; Yano T; Miyawaki S; Ohno K; Takeshita K
Hum Genet; 1997 Mar; 99(3):350-3. PubMed ID: 9050921
[TBL] [Abstract][Full Text] [Related]
20. Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease.
Beltroy EP; Richardson JA; Horton JD; Turley SD; Dietschy JM
Hepatology; 2005 Oct; 42(4):886-93. PubMed ID: 16175610
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]