Pavlova EV, Archer J, Wang S, Dekker N, Aerts JMFG, Karlsson S, Cox TM. (2015). Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B cell malignancy. Journal of Pathology 235: 113–124. (E-pub Sept 25 2014)

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC. (2015). Efficacy and safety of eliglustat compared with imiglucerase in Gaucher disease Type 1 stabilised on enzyme therapy. Lancet 385: (in press)

 

Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. (2014). Reversibility of neuropathology in Tay-Sachs related  diseases. Human Molecular Genetics 23: 730-748.

Vitner EB, Salomon R, Farfel-Becker T, Meshcheriakova A, Ali M, Klein A, Shinder V, Cox TM, Futerman AH. (2014). RIP3 as a novel therapeutic target for Gaucher disease. Nature Medicine 20: 204-208.

Bowes O, Baxter K, Elsey T, Snead M, Cox T. (2014). Hereditary hyperferritinaemia cataract syndrome. Lancet 383 (9927):1520.

 

 

Bradbury AM , Cochran JN,  McCurdy VJ, Johnson AK, Brunson BL , Gray-Edwards H, Leroy SG, Hwang M, Randle AN, Jackson LS, Morrison NE, Baek RC, Seyfried TN, Cheng SH, Cox NR, Baker HJ, Cachón-González MB, Cox TM, Sena-Esteves M and Martin DR. (2013). Therapeutic response in feline Sandhoff disease despite immunity to intracranial gene therapy. Molecular Therapy 21(7): 1306-1315.

PavlovaEV, WangS, ArcherJ, DekkerN,  AertsJMFG, Karlsson S,  Cox TM. (2013). B-cell lymphoma and myeloma in murine Gaucher disease. Journal of Pathology. 231: 88-97.

Hyry HI, Roos JCP, Manuel, J, Cox, TM. (2013). The legal  imperative for treating rare disorders. Orphanet Journal of Rare Diseases. 8(1):135.[Epub Sep 6 ahead of print]

Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. (2013). Reversibility of neuropathology in Tay-Sachs related diseases. Human Molecular Genetics (E-pub ahead of print 25 October). doi10.1093/hmg/ddt459

 

Cox TM, Brimicombe J, Wood DF, Peters DK. (2012).The Cambridge Bachelor of Medicine (MB)/Doctor of Philosophy (PhD): graduate outcomes of the first MB/PhD programme in the UK. Clinical Medicine 12: 530–534.

Cox TM, Cachón-González MB (2012) The Cellular Pathology of Lysosomal Diseases  Journal of Pathology 226: 241-254.

Cachón-González MB, Wang SZ, McNair R, Bradley J, Lunn D, Ziegler R, Cheng SH, Cox TM (2012). Gene Transfer Corrects Acute GM2 Gangliosidosis -Potential Therapeutic Contribution of Perivascular Enzyme Flow. Molecular Therapy 20:1489-1500.

Marchesan, D, Cox, TM, Deegan, PB. (2012) Lysosomal Delivery of Therapeutic Enzymes in Cell Models of Fabry Disease. Journal of Inherited Metabolic Disease 35:1107-1117

Cox TM, Cachón-González MB (2012) The Cellular Pathology of Lysosomal Diseases Journal of Pathology 226: 241-254

Smith NJ, Winstone AM, Stellitano L, Cox TM, Verity CM. (2012) GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Developmental Medicine and Child Neurology 54: 176-182.

Cachón-González MB, Wang SZ, McNair R, Bradley J, Lunn D, Ziegler R, Cheng SH, Cox TM (2012). Gene Transfer Corrects Acute GM2 Gangliosidosis-Potential Therapeutic Contribution of Perivascular Enzyme Flow. Molecular Therapeutics 20:1489-1500.

Cox TM, Amato D, Hollak CEM, Luzy C, Silkey M, Giorgino R, Steiner RD. (2012). Miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease. Orphanet Journal of Rare Diseases Dec 27; 7:102. doi: 10.1186/1750-1172-7-102.

Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González, MB (2012). Characterization of Inducible Models of Tay-Sachs and Related Disease. PLoS Genetics 8(9):e1002943.doi:10.1371/journal.pgen.1002943

 

 

Sargeant T.J., Wang S., Bradley J., Smith N.J.C., Raha A.A.,  McNair        R., Ziegler RJ, Cheng S.H., Cox T.M., Cachón-González  M.B..(2011). Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain. Human Molecular Genetics 20: 4371-4380.

Deane J.E., Graham S.C., Kim N.N., Stein P.E., McNair R., Cachón-González M.B., Cox T.M.,  Read R.J. (2011).Insights into Krabbe Disease from the Structures of  Galactocerebrosidase.  Proc Natl Acad Sci (USA) 108: 15169-15173.

Deegan, P.B., Pavlova, E.V., Tindall, J., Stein, P., Bearcroft, P., Mehta, A., Hughes, D., Wraith, J.E., Cox, T.M. (2011). Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy. Medicine (Baltimore) 90: 52-60.

Griffiths, W.J.H., Mayr, R., McFarlane, I., Hermann, H., Halsall, D.J., Zoller, H. and Cox, TM (2010) Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. Hepatology 51: 788-795.