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Bibliografias temáticas / Niemann-Pick disease type C

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Literatura científica selecionada sobre o tema "Niemann-Pick disease type C"

Autor: Grafiati

Publicado: 4 de junho de 2021

Última modificação: 1 de fevereiro de 2022

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Artigos de revistas sobre o assunto "Niemann-Pick disease type C"

1

Millichap, J. Gordon. "Niemann-Pick Disease Type C". Pediatric Neurology Briefs 3, n.º 9 (1 de setembro de 1989): 68. http://dx.doi.org/10.15844/pedneurbriefs-3-9-7.

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Cobcroft, Ralph. "Type C Niemann-Pick disease". British Journal of Haematology 111, n.º 3 (dezembro de 2000): 718. http://dx.doi.org/10.1046/j.1365-2141.2000.02536.x.

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Tarugi, Patrizia, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico e Sebastiano Calandra. "Niemann-Pick type C disease". Journal of Lipid Research 43, n.º 11 (16 de agosto de 2002): 1908–19. http://dx.doi.org/10.1194/jlr.m200203-jlr200.

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4

Yu, Daozhan, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan Coksaygan et al. "Niemann–Pick Disease Type C". Journal of Biomolecular Screening 19, n.º 8 (6 de junho de 2014): 1164–73. http://dx.doi.org/10.1177/1087057114537378.

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Niemann–Pick disease type C (NPC) is a rare neurodegenerative disorder caused by recessive mutations in the NPC1 or NPC2 gene that result in lysosomal accumulation of unesterified cholesterol in patient cells. Patient fibroblasts have been used for evaluation of compound efficacy, although neuronal degeneration is the hallmark of NPC disease. Here, we report the application of human NPC1 neural stem cells as a cell-based disease model to evaluate nine compounds that have been reported to be efficacious in the NPC1 fibroblasts and mouse models. These cells are differentiated from NPC1 induced pluripotent stem cells and exhibit a phenotype of lysosomal cholesterol accumulation. Treatment of these cells with hydroxypropyl-β-cyclodextrin, methyl-β-cyclodextrin, and δ-tocopherol significantly ameliorated the lysosomal cholesterol accumulation. Combined treatment with cyclodextrin and δ-tocopherol shows an additive or synergistic effect that otherwise requires 10-fold higher concentration of cyclodextrin alone. In addition, we found that hydroxypropyl-β-cyclodextrin is much more potent and efficacious in the NPC1 neural stem cells compared to the NPC1 fibroblasts. Miglustat, suberoylanilide hydroxamic acid, curcumin, lovastatin, pravastatin, and rapamycin did not, however, have significant effects in these cells. The results demonstrate that patient-derived NPC1 neural stem cells can be used as a model system for evaluation of drug efficacy and study of disease pathogenesis.

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Palmer, Millicent. "Niemann-Pick Disease—Type C". Archives of Ophthalmology 103, n.º 6 (1 de junho de 1985): 817. http://dx.doi.org/10.1001/archopht.1985.01050060077030.

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Schiffmann, Raphael. "Niemann-Pick Disease Type C". JAMA 276, n.º 7 (21 de agosto de 1996): 561. http://dx.doi.org/10.1001/jama.1996.03540070057031.

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Vanier, MT, e G. Millat. "Niemann-Pick disease type C". Clinical Genetics 64, n.º 4 (15 de setembro de 2003): 269–81. http://dx.doi.org/10.1034/j.1399-0004.2003.00147.x.

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Cobcroft, Ralph. "Type C Niemann-Pick disease". British Journal of Haematology 111, n.º 3 (dezembro de 2000): 718. http://dx.doi.org/10.1111/j.1365-2141.2000.02536.x.

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Liscum, Laura, e Judeth J. Klansek. "Niemann–Pick disease type C". Current Opinion in Lipidology 9, n.º 2 (abril de 1998): 131–35. http://dx.doi.org/10.1097/00041433-199804000-00009.

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Vanier, Marie. "Niemann-Pick disease type C". Molecular and Chemical Neuropathology 27, n.º 1 (janeiro de 1996): 70–72. http://dx.doi.org/10.1007/bf02815049.

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Teses / dissertações sobre o assunto "Niemann-Pick disease type C"

1

Lloyd-Evans, Emyr. "Cell biology of Niemann-Pick type C disease". Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437185.

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Colaço, Alexandria Nicole. "Niemann-Pick Type C disease : pathogenesis and therapy". Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:d75bf036-acc9-4c6f-89ad-7708d2996937.

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Niemann-Pick disease Type C is a rare, lysosomal storage disorder caused by defects in either NPC1 (95% of cases) or NPC2, and characterized by progressive neurodegeneration that ultimately results in premature death. The function of the NPC1 protein still remains poorly understood and how the NPC1 or NPC2 proteins interact, or the functions of the pathways they regulate still remains unknown. We have found unexpected links between NPC and other human diseases - particularly Tangier disease, suggesting that the NPC cellular pathway is more broadly involved in human disease than previously suggested. To gain further insight into the function of NPC1 and proteins it interacts with we used the yeast orthologue, Ncr1p. I recreated the ?ncr1 mutant and characterized the mutant using an array of systematic screens to identify different processes and pathways that may play a role in NPC pathogenesis. The screen implicated mitochondrial dysfunction, defects in metal ion homeostasis and lipid trafficking, cytoskeleton dysfunction and nutrient sensing deficiencies. These screens were validated in the Npc1-/- mouse model, where the effects of modulating kinases also emerged as a potential therapeutic option. In addition to kinases, we examined the therapeutic potential of the FDA-approved hypertension drug, losartan. Losartan ameliorated the acidic store Ca2+ defect, which characterizes NPC, and all downstream pathologies as well as in combination with miglustat reduced levels of neuroinflammation in the mouse model. Furthermore, the cyclodextrin analogue Crysmeb was also examined as a novel therapy for NPC, and was found to have significant survival benefits as compared to HPβCD, the cyclodextrin compound currently in clinical trials. Taken together, in this thesis I have identified novel aspects of NPC pathogenesis, as well as mechanistic links between NPC and Tangier disease - which has led to miglustat treatment options for two patients at Addenbrooke's Hostpital, Cambridge. Additionally, taking advantage of the convergent disease mechanisms I have examined treatments (losartan/Crysmeb) that take advantage of the similarities and differences between these two disorders paving the way for potential clinical studies in the future.

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Blom, Titta S. "Characterisation of cellular defects in Niemann-Pick type C disease". Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/mat/bioti/vk/blom/.

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Al, Eisa Nada. "Evaluation of new therapies in Niemann-Pick type C disease". Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:1538a0d6-b08e-444c-900d-de3ea3834ca5.

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Fluegel, Megan L. "Establishment of a Drosophila model of Niemann-Pick type C disease /". Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/5065.

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6

Hughes, Michael. "The development of gene therapy for Niemann-Pick Type C disease". Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/10040556/.

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Niemann-Pick Type C (NP-C) is a lysosomal storage disorder with neurological and visceral pathology, for which there is currently no major disease modifying treatment. Loss of NPC1 function, a late endosomal transmembrane protein, leads to systemic intracellular lipid accumulation. The subsequent premature death is usually associated with neurological manifestations, such as neurodegeneration and neuroinflammation. This project focuses on the development and preclinical evaluation of gene therapy for NP-C in a mouse model using an adeno-associated viral (AAV) vector. The vector would be capable of delivering and expressing human NPC1 in the mouse brain and providing therapeutic benefit. AAV vectors exhibit efficient and widespread gene delivery throughout the brain, however their limited packaging capacity can be a constraint for larger genes. In this project extensive construct modifications were carried out to incorporate the relatively large NPC1 cDNA into a functional AAV serotype 9 vector, where NPC1 is controlled by a constitutively active neuronal promoter. Initial in vivo testing demonstrated successful NPC1 over-expression in administered mouse brains, compared to endogenous NPC1 levels in unadministered controls. No indications of toxicity were observed as a result of exogenous NPC1 overexpression in vivo. A series of preclinical proof of concept survival studies were subsequently carried out on the Npc1-/- model, where newborn Npc1-/- mice were administered with 4.6 x 109 vector genomes of AAV9-NPC1 via intracerebroventricular injections. Treated Npc1-/- mice exhibited an increased lifespan (median survival - 116.5 days) compared to untreated Npc1-/- mice (median survival - 75.5 days). Low dose treated mice exhibited permanent normalisation of locomotor function and significant neuronal rescue in all brain regions analysed. A subsequent study with a 65-fold dose increase resulted in an additional significant extension of lifespan, along with improved weight maintenance. Combined, these results demonstrate the potential beneficial use of gene therapy for NP-C and support the further development of this approach.

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Brown, Gemma Louise. "Analysis of the Caenorhabditis elegans model of Niemann-Pick Type C Disease". Thesis, Open University, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412394.

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Buard, Isabelle Pfrieger Frank. "Relevance of glial cells in cellular mechanisms underlying the Niemann-Pick type C disease". Strasbourg : Université Louis Pasteur, 2006. http://eprints-scd-ulp.u-strasbg.fr:8080/554/01/BUARD2006.pdf.

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Buard, Isabelle. "Relevance of glial cells in cellular mechanisms underlying the Niemann-Pick type C disease". Université Louis Pasteur (Strasbourg) (1971-2008), 2006. https://publication-theses.unistra.fr/public/theses_doctorat/2006/BUARD_Isabelle_2006.pdf.

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La maladie de Niemann-Pick type C (NPC) est une pathologie rare caractérisée par une hépatosplénomégalie progressive et une dégénérescence du système nerveux central due à des mutations dans le gène npc1. Chez les malades, les tissus montrent une accumulation intracellulaire anormale de cholestérol et de glycosphingolipides. Dans le cervelet, les cellules de Purkinje sont spécifiquement affectées, présentant une dégénérescence massive et une morphologie dendritique anormale. Il reste encore à déterminer la raison pour laquelle une déficience en NPC1, protéine qui interviendrait dans le transport intracellulaire de cholestérol, induit la neurodégénérescence. Une question importante est si les neurones meurent de façon autonome ou dû à des interactions neurone-glie défectueuses. Nous avons postulé que le cholestérol issu de la glie serait nécessaire pour la formation et le maintien des synapses et qu'une privation de NPC1 induirait une perte des synapses et ainsi, la mort neuronale. Pour tester cette hypothèse, nous avons établi des nouvelles cultures primaires de neurones cerebelleux isolés de la glie à partir de souris postnatales. Grâce à l'utilisation d'un modèle murin pour NPC, ces cultures nous ont permis de déterminer l'importance de NPC1 sous forme fonctionnelle dans les neurones et les cellules gliales pour le développement et la fonction des synapses. Afin d'étudier les synapses, nous avons enregistré l'activité synaptique dans les cellules granulaires (GCs) et de Purkinje (PCs) par la méthode du voltage imposé en configuration cellule-entière. En absence de glie, seules les GCs ont établi des connections synaptiques. Les cellules gliales ont favorisé le développement des synapses entre GCs et PCs indépendamment de la présence de NPC1 fonctionnelle dans les neurones ou dans la glie. En revanche, l'absence de NPC1 dans les GCs et/ou dans la glie a altéré dramatiquement la synaptogenèse entre les GCs. Basée sur ces résultats, nous proposons l'hypothèse suivante: l'altération, suivie par la dégénérescence, des PCs dans la maladie de NPC serait causée par un développement ou une fonction déficiente des synapses au niveau des GCs
Niemann-Pick type C disease (NPC) is a rare autosomal recessive lysosomal storage disease due to mutations in the npc1 gene. NPC patients show progressive hepatosplenomegaly and central nervous system degeneration and abnormal intracellular accumulation of cholesterol and glycosphingolipids in different tissues. In the cerebellum, Purkinje cells are specifically affected showing abnormal dendritic morphology and a high rate of cell death. So far, it is unclear how a defect in NPC1, which is thought to mediate the intracellular transport of cholesterol, causes neurodegeneration. An important question is whether neurons die in a cell-autonomous manner or due to a breakdown of neuron-glia interactions. We have postulated that glia-derived cholesterol is necessary for the synapse formation and maintenance and that a defect in NPC1 causes loss of synapses and subsequently neuronal cell death. To test this hypothesis, we established new glia-free primary cultures of immunoisolated cerebellar neurons from postnatal mice. These cultures together with a mouse model of NPC allowed to determine the relevance of functional NPC1 in neurons and glial cells for synapse development and function. To study synapses, we recorded synaptic activity in granule cells (GCs) and Purkinje cells (PCs) by whole-cell patch-clamp. In the absence of glia, only GCs but not PCs formed synaptic connections. Glial cells promoted development of synapses between GCs and PCs independently from the presence of functional NPC1 in neurons or in glia. In contrast, absence of NPC1 in GCs and/or in glia impaired dramatically synaptogenesis between GCs. Based on our results, we hypothesize that the impairment and ultimately degeneration of PCs in NPC is caused by deficient synapse development or function in GCs

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Maguire, Emily. "Investigating ion dyshomeostasis in Niemann-Pick disease type C, both in vitro and in vivo". Thesis, Cardiff University, 2017. http://orca.cf.ac.uk/111382/.

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This thesis investigated ion dyshomeostasis within Niemann-Pick disease type C (NPC), a neurodegenerative lysosomal storage disease. Chapter 3 characterizes newly discovered lysosomal Zn2+ storage in NPC, and identifies a novel function for the NPC1 protein as a lysosomal Zn2+ transporter. Zn2+ accumulation appears responsible for some lipid storage within NPC, and treating cells with the Zn2+ chelator phytic acid corrects downstream NPC phenotypes. Chapter 4 investigates Ca2+-modulating therapies for treating NPC. These include tanganil, demonstrated in a recent case study to ameliorate ataxia within NPC patients, and which works by increasing cytosolic Ca2+ to overcome the NPC lysosomal Ca2+ signaling defect. The importance of this Ca2+ signaling defect in NPC can be seen both in the aforementioned beneficial effects of Ca2+ modulating therapies and when looking at NPC-like lipid storage and reduced neuronal Ca2+ spikes observed following treatment of zebrafish with an inhibitor of lysosomal Ca2+ signaling, Ned-19 (Chapter 5). In addition, Chapter 5 describes the generation and characterization of NPC zebrafish treated with inhibitors of npc1 (U18666A, 1NMP) and microinjected with npc1-morpholino. These models accurately recapitulate human NPC phenotypes (characteristic lipid storage, behavioural defects) and can be used to test emerging NPC therapies in vivo (e.g. phytic acid, tanganil). Finally, Chapter 6 explores how different formulations of curcumin, which correct NPC phenotypes both in vitro and in vivo via Ca2+ modulation, have reduced effect and can exacerbate storage in cells when combined with lipid vectors. Having described studies into both Ca2+ and Zn2+ dyshomeostasis in NPC, a new 2-armed pathogenic cascade was hypothesized whereby early dyshomeostasis of lysosomal Ca2+ and Zn2+ generates all downstream NPC phenotypes. Combination therapies with Ca2+ modulators (e.g. tanganil) and Zn2+ chelators (e.g. phytic acid) may provide the best option to treat this complex disease, and require testing both in vitro and in vivo.

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Mais fontes

Livros sobre o assunto "Niemann-Pick disease type C"

1

Bowler, Lynne Marie. Abnormal cholesterol metabolism in Niemann-Pick disease type C. Ottawa: National Library of Canada = Bibliothèque nationale du Canada, 1992.

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2

Sedel, Frédéric. Niemann-Pick Disease Type C. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0053.

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Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease characterized prominently by psychiatric disorders, cerebellar ataxia, cognitive decline, and vertical supranuclear gaze palsy. Miglustat is the only treatment approved to date which has been demonstrated to slow or halt disease progression.

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Geberhiwot, Tarekegn, e Carla E. M. Hollak. Niemann-Pick Disease Type B. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0048.

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Niemann-Pick disease type B (NPDB) is caused by deficient activity of sphingomyelin phosphodiesterase leading to the accumulation of sphingomyelin and other lipids, primarily within macrophages. The disease is characterised by hepatosplenomegaly, a bleeding tendency, interstitial lung disease and an atherogenic lipid profile. The diagnosis of NPDB is usually made in childhood after organomegaly is noted, and patients often survive into adulthood. The diagnostic work up includes enzymatic determination of sphingomyelinase activity, mutational analysis and screening and/or quantification for target organ involvement. NPDB has a variable clinical expression and may be a life-limiting disorder with significant morbidity and mortality. There is no disease specific therapy yet and hence management is symptomatic with particular attention to treating the long term complications of the disease.

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Capítulos de livros sobre o assunto "Niemann-Pick disease type C"

1

Vanier, Marie T., e Marc C. Patterson. "Niemann-Pick Disease Type C". In Lysosomal Storage Disorders, 87–93. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch11.

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2

Nadjar, Yann, e Marie T. Vanier. "Niemann-Pick Disease Type C". In Neurometabolic Hereditary Diseases of Adults, 121–46. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-76148-0_6.

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3

Ballout, Rami A. "Niemann-Pick Disease Type C (NPC)". In Genetic Syndromes, 1–10. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-66816-1_1339-1.

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4

Vanier, M. T., P. Pentchev, C. Rodriguez-Lafrasse e R. Rousson. "Niemann-Pick Disease Type C: An Update". In Journal of Inherited Metabolic Disease, 580–95. Dordrecht: Springer Netherlands, 1991. http://dx.doi.org/10.1007/978-94-011-9749-6_15.

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5

Bi, Xiaoning, e Guanghong Liao. "Cholesterol in Niemann–Pick Type C disease". In Cholesterol Binding and Cholesterol Transport Proteins:, 319–35. Dordrecht: Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-8622-8_11.

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6

Mavridou, Irene, Evangelia Dimitriou, Marie T. Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara et al. "The Spectrum of Niemann-Pick Type C Disease in Greece". In JIMD Reports, 41–48. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2016_41.

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7

Sokol, J., M. Vanier e P. Pentchev. "Niemann-Pick Disease Type C: A Lesion in Intracellular Cholesterol Transport". In Lipid Storage Disorders, 169–73. Boston, MA: Springer US, 1988. http://dx.doi.org/10.1007/978-1-4613-1029-7_20.

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Federico, A., S. Palmeri, O. Van Diggelen, E. Ferrari e G. C. Guazzi. "Juvenile Dystonia without Vertical Gaze Paralysis: Niemann—Pick Type C Disease". In Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia, 314–16. Dordrecht: Springer Netherlands, 1986. http://dx.doi.org/10.1007/978-94-009-4131-1_58.

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9

Traschütz, Andreas, e Michael Thomas Heneka. "Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort". In JIMD Reports, 109–14. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_133.

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Mellon, Synthia H., Wenhui Gong e Marcus D. Schonemann. "Endogenous and Synthetic Neurosteroids in the Treatment of Niemann-Pick Type C Disease". In Hormones in Neurodegeneration, Neuroprotection, and Neurogenesis, 41–60. Weinheim, Germany: Wiley-VCH Verlag GmbH & Co. KGaA, 2011. http://dx.doi.org/10.1002/9783527633968.ch4.

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Trabalhos de conferências sobre o assunto "Niemann-Pick disease type C"

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Veress, Alexander I., Jeffrey A. Weiss, Robert J. Gillies, Anton E. Bowden, Jean-Philippe Galons e Richard D. Rabbitt. "Deformable Image Registration of Mouse Brain MRI Data Using Hyperelastic Warping". In ASME 2002 International Mechanical Engineering Congress and Exposition. ASMEDC, 2002. http://dx.doi.org/10.1115/imece2002-32375.

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Quantification of time-dependent changes in three-dimensional morphology of brain structures and neural pathways is a fundamental requirement in studies of neurodevelopment, remodeling and progression of neurological diseases [1]. However, local measures of this kind are extremely difficult due to a lack of clear fiducials. Our motivation to develop a reliable technique to quantify time-dependent changes in neuroanatomy originated with the problem of tracking progression of Niemann-Pick disease type C (NP-C), a heritable disease that causes alterations in brain development [2].

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Frank, Nathalie, e Jochen Baumkötter. "P 1111. Case Report of a Juvenile Patient with Niemann–Pick’s Disease Type C". In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1675979.

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Griese, M., VR Aldana, F. Brasch, MM Cabrera, BJ Karam, G. Liebisch, P. Lohse et al. "Presenting Respiratory Disease in Niemann-Pick Type-C2 Is Caused by Pulmonary Alveolar Proteinosis (PAP) with Defective Surfactant." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a5964.

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