Works matching DE "NIEMANN-Pick diseases"
Results: 675
Lysosomal Targeting of β‐Cyclodextrin.
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- Chemistry - A European Journal, 2023, v. 29, n. 4, p. 1, doi. 10.1002/chem.202203252
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- Article
Effect of U18666a on Beta-Glucosidase, Sphingomyelinase, and Beta-Galactosidase Activities in Astrocytes of Young Rats.
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- Journal of Membrane Biology, 2015, v. 248, n. 2, p. 215, doi. 10.1007/s00232-014-9761-x
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- Article
Acid sphingomyelinase is a key regulator of cytotoxic granule secretion by primary T lymphocytes.
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- Nature Immunology, 2009, v. 10, n. 7, p. 761, doi. 10.1038/ni.1757
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- Article
ASMase: the tailor of cytotoxic T cell granule exocytosis.
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- Nature Immunology, 2009, v. 10, n. 7, p. 683, doi. 10.1038/ni0709-683
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- Publication type:
- Article
Lysosomal pH-inducible supramolecular dissociation of polyrotaxanes possessing acid-labile N -triphenylmethyl end groups and their therapeutic potential for Niemann-Pick type C disease.
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- Science & Technology of Advanced Materials, 2016, v. 17, n. 1, p. 361, doi. 10.1080/14686996.2016.1200948
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- Article
Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.
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- 2022
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- Publication type:
- journal article
Niemann-Pick disease type B and Parkinson's disease: a coexistence or an etiological association?
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- 2022
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- Publication type:
- Letter
Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.
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- Neurological Sciences, 2021, v. 42, n. 8, p. 3167, doi. 10.1007/s10072-021-05337-5
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- Article
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
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- 2018
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- Publication type:
- journal article
Dopamine transport system imaging is pathologic in Niemann-Pick type C-case report.
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- 2018
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- Case Study
Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases.
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- 2017
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- Publication type:
- journal article
Highlights of the Issue 5, 2017.
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- 2017
- Publication type:
- journal article
Vertical supranuclear gaze palsy in Niemann-Pick type C disease.
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- Neurological Sciences, 2012, v. 33, n. 6, p. 1225, doi. 10.1007/s10072-012-1155-1
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- Article
Preliminary development of proxy-rated quality-of-life scales for children and adults with Niemann-Pick type C.
- Published in:
- 2019
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- Publication type:
- journal article
Changing Relative Prevalence of Alzheimer Disease versus Non-Alzheimer Disease Dementias: Have We Underestimated the Looming Dementia Epidemic?
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- Dementia & Geriatric Cognitive Disorders, 2006, v. 22, n. 4, p. 273, doi. 10.1159/000095127
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- Publication type:
- Article
Evaluating pathological levels of intracellular cholesterol through Raman and surface-enhanced Raman spectroscopies.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-76621-5
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- Publication type:
- Article
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review.
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- Biomolecules (2218-273X), 2024, v. 14, n. 2, p. 211, doi. 10.3390/biom14020211
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- Publication type:
- Article
Molecular Mind Games: The Medicinal Action of Cyclodextrins in Neurodegenerative Diseases.
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- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 666, doi. 10.3390/biom13040666
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- Publication type:
- Article
Pharmacokinetic Properties of Fluorescently Labelled Hydroxypropyl-Beta-Cyclodextrin.
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- Biomolecules (2218-273X), 2019, v. 9, n. 10, p. 509, doi. 10.3390/biom9100509
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- Publication type:
- Article
P22.14: Non-immune hydrops fetalis and inborn errors of metabolism (IEM): Niemann-Pick Type C.
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- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 244, doi. 10.1002/uog.9887
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- Publication type:
- Article
Ceramide enrichment of the plasma membrane induces CD81 internalization and inhibits hepatitis C virus entry.
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- Cellular Microbiology, 2008, v. 10, n. 3, p. 606, doi. 10.1111/j.1462-5822.2007.01070.x
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- Article
Lipid Histiocytosis of the Gallbladder Neck Lymph Node.
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- Case Reports in Pathology, 2016, p. 1, doi. 10.1155/2016/1061507
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- Publication type:
- Article
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.
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- Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/3108093
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- Publication type:
- Article
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.
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- Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744
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- Publication type:
- Article
Vanadate-Induced Suicidal Erythrocyte Death.
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- Kidney & Blood Pressure Research, 2008, v. 31, n. 2, p. 87, doi. 10.1159/000119704
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- Publication type:
- Article
Ovarian tissue cryopreservation in the pediatric with rare diseases-experience from China's first and the largest ovarian tissue cryobank.
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- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1137940
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- Publication type:
- Article
Defects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease.
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- Skeletal Muscle, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0187-5
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- Publication type:
- Article
Ezetimibe: Its Novel Effects on the Prevention and the Treatment of Cholesterol Gallstones and Nonalcoholic Fatty Liver Disease.
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- Journal of Lipids, 2012, p. 1, doi. 10.1155/2012/302847
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- Publication type:
- Article
Sphingosylphosphocholine effects on cultured astrocytes reveal mechanisms potentially involved in neurotoxicity in Niemann-Pick type A disease.
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- European Journal of Neuroscience, 2007, v. 26, n. 4, p. 875, doi. 10.1111/j.1460-9568.2007.05732.x
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- Publication type:
- Article
Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.
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- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227829
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- Article
Editorial.
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- 2019
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- Publication type:
- Editorial
Systematic review of psychiatric signs in Niemann-Pick disease type C.
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- World Journal of Biological Psychiatry, 2019, v. 20, n. 4, p. 320, doi. 10.1080/15622975.2018.1441548
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- Publication type:
- Article
Corrigendum.
- Published in:
- 2019
- Publication type:
- Correction Notice
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.
- Published in:
- World Journal of Biological Psychiatry, 2019, v. 20, n. 4, p. 310, doi. 10.1080/15622975.2017.1379610
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- Publication type:
- Article
Acid sphingomyelinase in macrophage biology.
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- Cellular & Molecular Life Sciences, 2011, v. 68, n. 20, p. 3293, doi. 10.1007/s00018-011-0686-6
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- Publication type:
- Article
Sphingosine 1-phosphate, sphingosine kinase and autocrine calcium signalling in thyroid cells.
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- Acta Physiologica, 2012, v. 204, n. 2, p. 151, doi. 10.1111/j.1748-1716.2011.02265.x
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- Publication type:
- Article
Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment.
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- Biology of the Cell (Wiley-Blackwell), 2009, v. 101, n. 3, p. 141, doi. 10.1042/BC20070171
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- Article
Treatment available for Niemann-Pick C disease.
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- British Journal of Hospital Medicine (17508460), 2009, v. 70, n. 8, p. 436
- Publication type:
- Article
Treating progressive neurological manifestations of Niemann-PicktypeC.
- Published in:
- British Journal of Hospital Medicine (17508460), 2009, v. 70, n. 2, p. 69
- Publication type:
- Article
Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP 1-Coated Lamellar Inclusions.
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- Journal of Neuroscience, 2016, v. 36, n. 30, p. 8012, doi. 10.1523/JNEUROSCI.0900-16.2016
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- Publication type:
- Article
A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele.
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- Journal of Neuroscience, 2015, v. 35, n. 21, p. 8091, doi. 10.1523/JNEUROSCI.4173-14.2015
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- Publication type:
- Article
The Stimulation of Adenosine A<sup>2A</sup> Receptors Ameliorates the Pathological Phenotype of Fibroblasts from Niemann-Pick Type C Patients.
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- Journal of Neuroscience, 2013, v. 33, n. 39, p. 15388, doi. 10.1523/JNEUROSCI.0558-13.2013
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- Article
Progressive intellectual and neurological disorders: can surveillance lead to improved outcomes?
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- 2017
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- Publication type:
- journal article
Niemann-Pick type C as a cause of progressive intellectual and neurological deterioration in childhood.
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- 2017
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- Publication type:
- journal article
Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes.
- Published in:
- 2016
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- Publication type:
- journal article
Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.
- Published in:
- 2016
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- Publication type:
- journal article
Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease.
- Published in:
- FASEB Journal, 2008, v. 22, n. 10, p. 3617, doi. 10.1096/fj.07-102715
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- Publication type:
- Article
The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.
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- FASEB Journal, 2008, v. 22, n. 10, p. 3419, doi. 10.1096/fj.08-108043
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- Publication type:
- Article
Investigating the molecular mechanism of toxicity following administration of recombinant human acid sphingomyelinase.
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- FASEB Journal, 2007, v. 21, n. 6, p. A810, doi. 10.1096/fasebj.21.6.a810-d
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- Publication type:
- Article
Niemann-Pick Type C2 (NPC2) Protein Regulates Adipocyte Metabolism.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A664, doi. 10.1096/fasebj.21.5.a664
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- Publication type:
- Article