Hasil Pencarian - Timothy M Cox

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  1. 1
    Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind

    Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind oleh Timothy M. Cox

    Diterbitkan 2020-08-01
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  2. 2
    Editorial: Prevention, diagnosis and treatment of rare disorders

    Editorial: Prevention, diagnosis and treatment of rare disorders oleh Timothy M. Cox, Anna Tylki-Szymańska, Ségolène Aymé, Marc Dooms

    Diterbitkan 2022-09-01
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  3. 3
    Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease

    Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease oleh Emmanuelle Lecommandeur, David Baker, Timothy M. Cox, Andrew W. Nicholls, Julian L. Griffin

    Diterbitkan 2017-07-01
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  4. 4
    Critical role of iron in the pathogenesis of the murine gangliosidoses

    Critical role of iron in the pathogenesis of the murine gangliosidoses oleh Mylvaganam Jeyakumar, Ian Williams, David A. Smith, Timothy M. Cox, Frances M. Platt

    Diterbitkan 2009-06-01
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  5. 5
    Characterization of inducible models of Tay-Sachs and related disease.

    Characterization of inducible models of Tay-Sachs and related disease. oleh Timothy J Sargeant, Deborah J Drage, Susan Wang, Apostolos A Apostolakis, Timothy M Cox, M Begoña Cachón-González

    Diterbitkan 2012-09-01
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  6. 6
    Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics

    Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics oleh Emmanuelle Lecommandeur, Maria Begoña Cachón-González, Susannah Boddie, Ben D. McNally, Andrew W. Nicholls, Timothy M. Cox, Julian L. Griffin

    Diterbitkan 2020-12-01
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  7. 7
    Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

    Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease oleh Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka

    Diterbitkan 2022-06-01
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  8. 8
    Identification of Modifier Genes in a Mouse Model of Gaucher Disease

    Identification of Modifier Genes in a Mouse Model of Gaucher Disease oleh Andrés D. Klein, Natalia-Santos Ferreira, Shifra Ben-Dor, Jingjing Duan, John Hardy, Timothy M. Cox, Alfred H. Merrill Jr., Anthony H. Futerman

    Diterbitkan 2016-09-01
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  9. 9
    A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease

    A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease oleh Eva Zaccariotto, María Begoña Cachón-González, Bing Wang, Sungtaek Lim, Bradford Hirth, Hyejung Park, Malika Fezoui, S.Pablo Sardi, Paul Mason, Robert H. Barker, Jr, Timothy M. Cox

    Diterbitkan 2022-05-01
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  10. 10
    Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

    Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C oleh Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox, Frances M Platt

    Diterbitkan 2004-08-01
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  11. 11
    Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes

    Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes oleh Laura van Dussen, Timothy M. Cox, Erik J. Hendriks, Elizabeth Morris, Erik M. Akkerman, Mario Maas, Johanna E. M. Groener, Johannes M.F.G. Aerts, Patrick B. Deegan, Carla E. M. Hollak

    Diterbitkan 2012-12-01
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  12. 12
    L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation

    L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation oleh Beatriz Castejón-Vega, Alejandro Rubio, Antonio J. Pérez-Pulido, José L. Quiles, Jon D. Lane, Beatriz Fernández-Domínguez, María Begoña Cachón-González, Carmen Martín-Ruiz, Alberto Sanz, Timothy M. Cox, Elísabet Alcocer-Gómez, Mario D. Cordero

    Diterbitkan 2021-11-01
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  13. 13
    In-depth phenotyping for clinical stratification of Gaucher disease

    In-depth phenotyping for clinical stratification of Gaucher disease oleh Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, the MRC GAUCHERITE Consortium

    Diterbitkan 2021-10-01
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  14. 14
    Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions

    Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions oleh Daphne E. Boer, Mina Mirzaian, Maria J. Ferraz, Kimberley C. Zwiers, Merel V. Baks, Marc D. Hazeu, Roelof Ottenhoff, André R.A. Marques, Rianne Meijer, Jonathan C.P. Roos, Timothy M. Cox, Rolf G. Boot, Navraj Pannu, Herman S. Overkleeft, Marta Artola, Johannes M. Aerts

    Diterbitkan 2021-01-01
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  15. 15
    Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S]

    Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S] oleh AndréR.A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, CindyP.A.A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts

    Diterbitkan 2016-03-01
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