Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial
Cox, Timothy M, Prof, Drelichman, Guillermo, MD, Cravo, Renata, MD, Balwani, Manisha, MD, Burrow, Thomas Andrew, MD, Martins, Ana Maria, MD, Lukina, Elena, Prof, Rosenbloom, Barry, MD, Ross, Leorah, MD, Angell, Jennifer, MSc, Puga, Ana Cristina, MD
Published in The Lancet (British edition) (13.06.2015)
Published in The Lancet (British edition) (13.06.2015)
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Journal Article
RIPK3 as a potential therapeutic target for Gaucher's disease
Vitner, Einat B, Salomon, Ran, Farfel-Becker, Tamar, Meshcheriakova, Anna, Ali, Mohammad, Klein, Andrés D, Platt, Frances M, Cox, Timothy M, Futerman, Anthony H
Published in Nature medicine (01.02.2014)
Published in Nature medicine (01.02.2014)
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Journal Article
Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy
Pavlova, Elena V, Archer, Joy, Z Wang, Susan, Dekker, Nick, Aerts, Johannes MFG, Karlsson, Stefan, Cox, Timothy M
Published in The Journal of pathology (01.01.2015)
Published in The Journal of pathology (01.01.2015)
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Journal Article
Editorial: Prevention, diagnosis and treatment of rare disorders
Cox, Timothy M., Tylki-Szymańska, Anna, Aymé, Ségolène, Dooms, Marc
Published in Frontiers in pharmacology (28.09.2022)
Published in Frontiers in pharmacology (28.09.2022)
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Journal Article
Reduced cerebral vascularization in experimental neuronopathic Gaucher disease
Smith, Nicholas JC, Fuller, Maria, Saville, Jennifer T, Cox, Timothy M
Published in The Journal of pathology (01.01.2018)
Published in The Journal of pathology (01.01.2018)
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Journal Article
The lysosomal disease caused by mutant VPS33A
Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Published in Human molecular genetics (01.08.2019)
Published in Human molecular genetics (01.08.2019)
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Journal Article
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease
Donald, Aimee, Björkvall, Cecilia Kämpe, Vellodi, Ashok, Cox, Timothy M, Hughes, Derralyn, Jones, Simon A, Wynn, Robert, Machaczka, Maciej
Published in Orphanet journal of rare diseases (18.06.2022)
Published in Orphanet journal of rare diseases (18.06.2022)
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Journal Article
Rare diseases and effective treatments: are we delivering?
Luzzatto, Lucio, Hollak, Carla E M, Cox, Timothy M, Schieppati, Arrigo, Licht, Christoph, Kääriäinen, Helena, Merlini, Giampaolo, Schaefer, Franz, Simoens, Steven, Pani, Luca, Garattini, Silvio, Remuzzi, Giuseppe
Published in The Lancet (British edition) (28.02.2015)
Published in The Lancet (British edition) (28.02.2015)
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Journal Article
A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease
Zaccariotto, Eva, Cachón-González, María Begoña, Wang, Bing, Lim, Sungtaek, Hirth, Bradford, Park, Hyejung, Fezoui, Malika, Sardi, S.Pablo, Mason, Paul, Barker, Robert H., Cox, Timothy M.
Published in Biomedicine & pharmacotherapy (01.05.2022)
Published in Biomedicine & pharmacotherapy (01.05.2022)
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Journal Article
Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S]
Marques, AndréR.A., Mirzaian, Mina, Akiyama, Hisako, Wisse, Patrick, Ferraz, Maria J., Gaspar, Paulo, Ghauharali-van der Vlugt, Karen, Meijer, Rianne, Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Dahl, Maria, Karlsson, Stefan, Pavlova, Elena V., Cox, Timothy M., Scheij, Saskia, Verhoek, Marri, Ottenhoff, Roelof, van Roomen, CindyP.A.A., Pannu, Navraj S., van Eijk, Marco, Dekker, Nick, Boot, Rolf G., Overkleeft, Herman S., Blommaart, Edward, Hirabayashi, Yoshio, Aerts, Johannes M.
Published in Journal of lipid research (01.03.2016)
Published in Journal of lipid research (01.03.2016)
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Journal Article
In-depth phenotyping for clinical stratification of Gaucher disease
D'Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y, Poole, Kenneth, Jones, Simon A, Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H, Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M
Published in Orphanet journal of rare diseases (14.10.2021)
Published in Orphanet journal of rare diseases (14.10.2021)
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Journal Article
Innovative Treatments for Lysosomal Diseases
Cox, Timothy M., MA MSc MD FRCP FMedSci
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.03.2015)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.03.2015)
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Journal Article
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy
Deegan, Patrick B, Pavlova, Elena, Tindall, Jane, Stein, Penelope E, Bearcroft, Philip, Mehta, Atul, Hughes, Derralynn, Wraith, J Edmund, Cox, Timothy M
Published in Medicine (Baltimore) (01.01.2011)
Published in Medicine (Baltimore) (01.01.2011)
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Journal Article
Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease
Lecommandeur, Emmanuelle, Baker, David, Cox, Timothy M., Nicholls, Andrew W., Griffin, Julian L.
Published in Journal of lipid research (01.07.2017)
Published in Journal of lipid research (01.07.2017)
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Journal Article
Insights into Krabbe disease from structures of galactocerebrosidase
Deane, Janet E., Graham, Stephen C., Kim, Nee Na, Stein, Penelope E., McNair, Rosamund, Cachón-González, M. Begoña, Cox, Timothy M., Read, Randy J.
Published in Proceedings of the National Academy of Sciences - PNAS (13.09.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (13.09.2011)
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Journal Article
Imaging MALDI Mass Spectrometry Using an Oscillating Capillary Nebulizer Matrix Coating System and Its Application to Analysis of Lipids in Brain from a Mouse Model of Tay−Sachs/Sandhoff Disease
Chen, Yanfeng, Allegood, Jeremy, Liu, Ying, Wang, Elaine, Cachón-González, Begoña, Cox, Timothy M, Merrill, Alfred H, Sullards, M. Cameron
Published in Analytical chemistry (Washington) (15.04.2008)
Published in Analytical chemistry (Washington) (15.04.2008)
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Journal Article
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions
Boer, Daphne E., Mirzaian, Mina, Ferraz, Maria J., Zwiers, Kimberley C., Baks, Merel V., Hazeu, Marc D., Ottenhoff, Roelof, Marques, André R.A., Meijer, Rianne, Roos, Jonathan C.P., Cox, Timothy M., Boot, Rolf G., Pannu, Navraj, Overkleeft, Herman S., Artola, Marta, Aerts, Johannes M.
Published in Journal of lipid research (01.01.2021)
Published in Journal of lipid research (01.01.2021)
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Journal Article