| 1 |
34296265 | Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics. | 2021 Nov 30 |
1 |
| 2 |
34445564 | Myelin Defects in Niemann-Pick Type C Disease: Mechanisms and Possible Therapeutic Perspectives. | 2021 Aug 17 |
1 |
| 3 |
34810067 | Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease. | 2021 Dec |
1 |
| 4 |
32993765 | Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat. | 2020 Sep 29 |
2 |
| 5 |
30710017 | NPC intracellular cholesterol transporter 1 (NPC1)-mediated cholesterol export from lysosomes. | 2019 Feb 1 |
2 |
| 6 |
28332184 | Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease. | 2018 Jan |
1 |
| 7 |
27923633 | Diversity of glycosphingolipid GM2 and cholesterol accumulation in NPC1 patient-specific iPSC-derived neurons. | 2017 Feb 15 |
1 |
| 8 |
28082351 | FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts. | 2017 Apr |
2 |
| 9 |
28134274 | A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency. | 2017 Jan 30 |
1 |
| 10 |
28413817 | Dataset in support of the generation of Niemann-Pick disease Type C1 patient-specific iPS cell lines carrying the novel NPC1 mutation c.1180T>C or the prevalent c.3182T>C mutation - Analysis of pluripotency and neuronal differentiation. | 2017 Jun |
1 |
| 11 |
25946402 | Immune dysfunction in Niemann-Pick disease type C. | 2016 Jan |
1 |
| 12 |
26984608 | Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat. | 2016 May |
1 |
| 13 |
27307499 | Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease. | 2016 Aug |
1 |
| 14 |
25425283 | Complex lipid trafficking in Niemann-Pick disease type C. | 2015 Jan |
1 |
| 15 |
25239094 | Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers. | 2014 Sep 20 |
2 |
| 16 |
22572546 | Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. | 2012 Jul |
3 |
| 17 |
22585405 | Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. | 2012 Jul |
1 |
| 18 |
22820346 | Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy. | 2012 Oct |
1 |
| 19 |
23144710 | Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. | 2012 |
1 |
| 20 |
21344635 | The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. | 2011 Mar |
2 |
| 21 |
18681838 | Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment. | 2009 Mar |
1 |
| 22 |
18774957 | Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. | 2009 Sep |
2 |
| 23 |
19647672 | Recommendations on the diagnosis and management of Niemann-Pick disease type C. | 2009 Sep-Oct |
2 |
| 24 |
17689147 | Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. | 2007 Sep |
1 |
| 25 |
16785493 | Cutting edge: impaired glycosphingolipid trafficking and NKT cell development in mice lacking Niemann-Pick type C1 protein. | 2006 Jul 1 |
2 |
| 26 |
14982851 | Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities. | 2004 Mar |
1 |
| 27 |
15262277 | Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. | 2004 Aug |
2 |
| 28 |
15465423 | Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport. | 2004 Oct 11 |
1 |
| 29 |
12070301 | Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. | 2002 Jun |
1 |
| 30 |
11013265 | Fate of endogenously synthesized cholesterol in Niemann-Pick type C1 cells. | 2000 Dec 29 |
1 |