| Year |
Citation |
Score |
| 2019 |
Beck M, Cox TM. Comment: Why are females with Fabry disease affected? Molecular Genetics and Metabolism Reports. 21: 100529. PMID 31687338 DOI: 10.1016/J.Ymgmr.2019.100529 |
0.31 |
|
| 2019 |
Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. The lysosomal disease caused by mutant VPS33A. Human Molecular Genetics. PMID 31070736 DOI: 10.1093/Hmg/Ddz077 |
0.391 |
|
| 2019 |
Serratrice C, Cox TM, Leguy-Seguin V, Morris E, Yousfi K, Monnet O, Sibert A, Allaham W, Belmatoug N. Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases. Journal of Clinical Medicine. 8. PMID 30744043 DOI: 10.3390/Jcm8020219 |
0.339 |
|
| 2019 |
Weinreb NJ, Cox TM, Mistry PK, Charrow J, Lukina E, Foster MC, Peterschmitt MJ. Biomarker Response to Oral Eliglustat in Adults with Gaucher Disease Type 1: Results from 4 Completed Clinical Trials Blood. 134: 4859-4859. DOI: 10.1182/Blood-2019-127337 |
0.359 |
|
| 2019 |
Donald A, Jones SA, Vellodi A, Cox T. From birth to the sixth decade - A natural history study of 42 patients with neuronopathic Gaucher disease Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.110 |
0.357 |
|
| 2019 |
Cox TM, Charrow J, Lukina E, Mistry P, Marinakis T, Foster M, Gaemers SJM, Peterschmitt MJ. Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.091 |
0.326 |
|
| 2018 |
Pohl S, Angermann A, Jeschke A, Hendrickx G, Yorgan TA, Makrypidi-Fraune G, Steigert A, Kuehn SC, Rolvien T, Schweizer M, Koehne T, Neven M, Winter O, Velho RV, Albers J, ... ... Cox TM, et al. The lysosomal protein arylsulfatase B is a key enzyme involved in skeletal turnover. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30075049 DOI: 10.1002/Jbmr.3563 |
0.309 |
|
| 2018 |
Cachon-Gonzalez MB, Zaccariotto E, Cox TM. Genetics and Therapies for GM2 Gangliosidosis. Current Gene Therapy. PMID 29618308 DOI: 10.2174/1566523218666180404162622 |
0.423 |
|
| 2018 |
Mistry PK, Charrow J, Cox T, Lukina E, Marinakis T, Foster MC, Gaemers SJ, Peterschmitt J. Long-Term Effects of Oral Eliglustat on Skeletal Manifestations of Gaucher Disease Type 1: Results from Four Completed Clinical Trials Blood. 132: 2396-2396. DOI: 10.1182/Blood-2018-99-117289 |
0.317 |
|
| 2017 |
Smith NJC, Fuller M, Saville JT, Cox TM. Reduced cerebral vascularisation in experimental neuronopathic Gaucher disease. The Journal of Pathology. PMID 28981147 DOI: 10.1002/Path.4992 |
0.311 |
|
| 2017 |
Roos JCP, Daniels MJ, Morris E, Hyry HI, Cox TM. Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management. Molecular Genetics and Metabolism. PMID 28822614 DOI: 10.1016/J.Ymgme.2017.06.008 |
0.313 |
|
| 2017 |
Lecommandeur E, Baker D, Cox TM, Nicholls AW, Griffin JL. Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease. Journal of Lipid Research. PMID 28377426 DOI: 10.1194/Jlr.M073395 |
0.303 |
|
| 2017 |
Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJ, Tayag R, et al. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Blood. PMID 28167660 DOI: 10.1182/Blood-2016-12-758409 |
0.336 |
|
| 2017 |
Hyry HI, Cox TM, Roos JC. Brexit and rare diseases: big risk, bigger opportunity? Current Medical Research and Opinion. 1-4. PMID 28100081 DOI: 10.1080/03007995.2017.1284053 |
0.318 |
|
| 2017 |
Cox TM, Weinreb NJ, Drelichman G, Lukina E, Tayag R, Gaemers SJM, Hou AW, Peterschmitt MJ. Maintenance of quality of life in adults with type 1 Gaucher disease previously stabilized on enzyme therapy who were switched to oral eliglustat: 4 year results of the ENCORE trial Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.071 |
0.306 |
|
| 2016 |
Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, et al. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. Blood Cells, Molecules & Diseases. PMID 28274788 DOI: 10.1016/J.Bcmd.2016.10.008 |
0.375 |
|
| 2016 |
Marques AR, Willems LI, Herrera Moro D, Florea BI, Scheij S, Ottenhoff R, van Roomen C, Verhoek M, Nelson JK, Kallemeijn WW, Biela-Banas A, Martin OR, Cachón-González MB, Kim NN, Cox TM, et al. A specific activity-based probe to monitor family GH59 galactosylceramidase - the enzyme deficient in Krabbe disease. Chembiochem : a European Journal of Chemical Biology. PMID 28000364 DOI: 10.1002/Cbic.201600561 |
0.36 |
|
| 2016 |
Machaczka M, Paucar M, Björkvall CK, Smith NJ, Cox TM, Forsgren L, Svenningsson P. Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients. Blood Cells, Molecules & Diseases. PMID 27789132 DOI: 10.1016/J.Bcmd.2016.10.011 |
0.371 |
|
| 2016 |
Pleat R, Cox TM, Burrow TA, Giraldo P, Goker-Alpan O, Rosenbloom BE, Croal LR, Underhill LH, Gaemers SJ, Peterschmitt MJ. Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial. Molecular Genetics and Metabolism Reports. 9: 25-28. PMID 27722092 DOI: 10.1016/J.Ymgmr.2016.08.009 |
0.378 |
|
| 2016 |
Kramer G, Wegdam W, Donker-Koopman W, Ottenhoff R, Gaspar P, Verhoek M, Nelson J, Gabriel T, Kallemeijn W, Boot RG, Laman JD, Vissers JP, Cox T, Pavlova E, Moran MT, et al. Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. Febs Open Bio. 6: 902-13. PMID 27642553 DOI: 10.1002/2211-5463.12078 |
0.369 |
|
| 2016 |
Klein AD, Ferreira NS, Ben-Dor S, Duan J, Hardy J, Cox TM, Merrill AH, Futerman AH. Identification of Modifier Genes in a Mouse Model of Gaucher Disease. Cell Reports. PMID 27568557 DOI: 10.1016/J.Celrep.2016.07.085 |
0.361 |
|
| 2016 |
Belmatoug N, Di Rocco M, Fraga C, Giraldo P, Hughes D, Lukina E, Maison-Blanche P, Merkel M, Niederau C, Plӧckinger U, Richter J, Stulnig TM, Vom Dahl S, Cox TM. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. European Journal of Internal Medicine. PMID 27522145 DOI: 10.1016/J.Ejim.2016.07.011 |
0.378 |
|
| 2016 |
Donald CA, Jones S, Chakrapani A, Collin-Histed T, Vellodi A, Hendriksz C, Hughes D, Cox T. Unexpected and paediatric death in UK patients with neuronopathic Gaucher disease Molecular Genetics and Metabolism. 117. DOI: 10.1016/J.Ymgme.2015.12.242 |
0.342 |
|
| 2016 |
Cox TM, Drelichman G, Balwani M, Burrow TA, Lukina E, Rosenbloom B, Gaemers SJM, Angell J, Peterschmitt MJ. Four-year follow-up from the ENCORE trial: A randomized, controlled, non-inferiority study comparing eliglustat to imiglucerase in patients with Gaucher disease type 1 stabilized on enzyme replacement therapy Molecular Genetics and Metabolism. 117. DOI: 10.1016/J.Ymgme.2015.12.229 |
0.332 |
|
| 2015 |
Cox TM, Rosenbloom BE, Barker RA. Gaucher disease and comorbidities: B-cell malignancy and parkinsonism. American Journal of Hematology. 90: S25-8. PMID 26096744 DOI: 10.1002/Ajh.24057 |
0.398 |
|
| 2015 |
Cox TM. Innovative treatments for lysosomal diseases. Best Practice & Research. Clinical Endocrinology & Metabolism. 29: 275-311. PMID 25987179 DOI: 10.1016/J.Beem.2015.01.001 |
0.348 |
|
| 2015 |
Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC. 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. Lancet (London, England). 385: 2355-62. PMID 25819691 DOI: 10.1016/S0140-6736(14)61841-9 |
0.355 |
|
| 2015 |
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM. Enzyme replacement and substrate reduction therapy for Gaucher disease. The Cochrane Database of Systematic Reviews. 3: CD010324. PMID 25812601 DOI: 10.1002/14651858.Cd010324.Pub2 |
0.366 |
|
| 2015 |
Luzzatto L, Hollak CE, Cox TM, Schieppati A, Licht C, Kääriäinen H, Merlini G, Schaefer F, Simoens S, Pani L, Garattini S, Remuzzi G. Rare diseases and effective treatments: are we delivering? Lancet. 385: 750-2. PMID 25752159 DOI: 10.1016/S0140-6736(15)60297-5 |
0.343 |
|
| 2015 |
Vitner EB, Vardi A, Cox TM, Futerman AH. Emerging therapeutic targets for Gaucher disease. Expert Opinion On Therapeutic Targets. 19: 321-34. PMID 25416676 DOI: 10.1517/14728222.2014.981530 |
0.364 |
|
| 2015 |
Pavlova EV, Archer J, Wang S, Dekker N, Aerts JM, Karlsson S, Cox TM. Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy. The Journal of Pathology. 235: 113-24. PMID 25256118 DOI: 10.1002/Path.4452 |
0.323 |
|
| 2015 |
Cox TM, Drelichman GI, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom BE, Ross LH, Angell J, Peterschmitt MJ. ENCORE, a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month results Molecular Genetics and Metabolism. 114. DOI: 10.1016/J.Ymgme.2014.12.058 |
0.34 |
|
| 2014 |
Lewis C, Wessels M, Carty H, Baird P, Cox T, Cachón B, Wang S, Holmes P, Mackintosh A, Chianini F. Testing sheep for GM2 gangliosidosis. The Veterinary Record. 175: 260. PMID 25217607 DOI: 10.1136/Vr.G5560 |
0.361 |
|
| 2014 |
Praschberger R, Schranz M, Griffiths WJ, Baumgartner N, Hermann M, Lomas DJ, Pietrangelo A, Cox TM, Vogel W, Zoller H. Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor. Biochimica Et Biophysica Acta. 1842: 1406-12. PMID 24859227 DOI: 10.1016/J.Bbadis.2014.05.011 |
0.314 |
|
| 2014 |
Bowes O, Baxter K, Elsey T, Snead M, Cox T. Hereditary hyperferritinaemia cataract syndrome. Lancet (London, England). 383: 1520. PMID 24766965 DOI: 10.1016/S0140-6736(14)60484-0 |
0.314 |
|
| 2014 |
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, ... ... Cox TM, et al. Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. The Journal of Clinical Investigation. 124: 1320-8. PMID 24487591 DOI: 10.1172/Jci72835 |
0.35 |
|
| 2014 |
Vitner EB, Salomon R, Farfel-Becker T, Meshcheriakova A, Ali M, Klein AD, Platt FM, Cox TM, Futerman AH. RIPK3 as a potential therapeutic target for Gaucher's disease Nature Medicine. 20: 204-208. PMID 24441827 DOI: 10.1038/Nm.3449 |
0.413 |
|
| 2014 |
Wessels M, Carty H, Baird P, Beggs N, Cox T, Cachón B, Wang S, Davies I, Holmes P, Mackintosh A, Chianini F. GM2 gangliosidosis in British Jacob sheep. The Veterinary Record. 174: 20-1. PMID 24391178 DOI: 10.1136/Vr.F7635 |
0.374 |
|
| 2014 |
Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM. Reversibility of neuropathology in Tay-Sachs-related diseases. Human Molecular Genetics. 23: 730-48. PMID 24057669 DOI: 10.1093/Hmg/Ddt459 |
0.366 |
|
| 2014 |
Cox T. Gaucher's Disease Bone Abstracts. 753-757. DOI: 10.1530/Boneabs.3.Es2.2 |
0.337 |
|
| 2014 |
Rosenbloom BE, Cox TM, Drelichman GI, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Ross LH, Angell J, Peterschmitt J. Encore - a Randomized, Controlled, Open-Label Non-Inferiority Study Comparing Eliglustat to Imiglucerase in Gaucher Disease Type 1 Patients Stabilized on Enzyme Replacement Therapy: 24-Month Results Blood. 124: 1406-1406. DOI: 10.1182/Blood.V124.21.1406.1406 |
0.332 |
|
| 2014 |
Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC. ENCORE: A randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients on enzyme replacement therapy who have reached therapeutic goals Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.061 |
0.349 |
|
| 2013 |
Pavlova EV, Wang SZ, Archer J, Dekker N, Aerts JMFG, Karlsson S, Cox TM. B cell lymphoma and myeloma in murine Gaucher's disease Journal of Pathology. 231: 88-97. PMID 23775597 DOI: 10.1002/Path.4227 |
0.321 |
|
| 2013 |
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, ... ... Cox TM, et al. Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. Molecular Therapy : the Journal of the American Society of Gene Therapy. 21: 1306-15. PMID 23689599 DOI: 10.1038/Mt.2013.86 |
0.317 |
|
| 2013 |
Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, et al. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 232-6. PMID 23225227 DOI: 10.1002/Mds.25248 |
0.322 |
|
| 2013 |
Balwani M, Cox TM, Drelichman G, Cravo R, Martins AM, Lukina E, Rosenbloom BE, Ross LH, Angell J, Puga AC. Encore: A Randomized, Controlled, Open-Label Non-Inferiority Study Comparing Eliglustat To Imiglucerase In Gaucher Disease Type 1 Patients On Enzyme Replacement Therapy Who Have Reached Therapeutic Goals Blood. 122: 3468-3468. DOI: 10.1182/Blood.V122.21.3468.3468 |
0.354 |
|
| 2013 |
Pastores G, Shankar SP, Szer J, Petakov M, Cox TM, Giraldo P, Rosenbaum H, Amato DJ, Mengel E, Chertkoff R, Almon-Brill E, Zimran A. Plant cell-expressed recombinant glucocerebrosidase: Taliglucerase alfa as therapy for Gaucher disease in adults patients previously treated with imiglucerase: 24-month results Molecular Genetics and Metabolism. 108. DOI: 10.1016/J.Ymgme.2012.11.193 |
0.365 |
|
| 2012 |
Pavlova EV, Deegan PB, Cox TM. Biomarkers for osteonecrosis in Gaucher disease. Expert Opinion On Medical Diagnostics. 6: 1-13. PMID 23480616 DOI: 10.1517/17530059.2012.626402 |
0.351 |
|
| 2012 |
Cox TM, Amato D, Hollak CE, Luzy C, Silkey M, Giorgino R, Steiner RD. Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet Journal of Rare Diseases. 7: 102. PMID 23270487 DOI: 10.1186/1750-1172-7-102 |
0.358 |
|
| 2012 |
Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB. Characterization of Inducible Models of Tay-Sachs and Related Disease Plos Genetics. 8. PMID 23028353 DOI: 10.1371/Journal.Pgen.1002943 |
0.32 |
|
| 2012 |
van Dussen L, Cox TM, Hendriks EJ, Morris E, Akkerman EM, Maas M, Groener JE, Aerts JM, Deegan PB, Hollak CE. Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes. Haematologica. 97: 1850-4. PMID 22773601 DOI: 10.3324/Haematol.2011.059071 |
0.339 |
|
| 2012 |
Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J. Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism. 106: 495-7. PMID 22658918 DOI: 10.1016/J.Ymgme.2012.05.006 |
0.33 |
|
| 2012 |
Cachón-González MB, Wang SZ, McNair R, Bradley J, Lunn D, Ziegler R, Cheng SH, Cox TM. Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. Molecular Therapy : the Journal of the American Society of Gene Therapy. 20: 1489-500. PMID 22453766 DOI: 10.1038/Mt.2012.44 |
0.342 |
|
| 2012 |
Marchesan D, Cox TM, Deegan PB. Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease Journal of Inherited Metabolic Disease. 35: 1107-1117. PMID 22450713 DOI: 10.1007/S10545-012-9472-3 |
0.328 |
|
| 2012 |
Smith NJ, Winstone AM, Stellitano L, Cox TM, Verity CM. GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed Developmental Medicine and Child Neurology. 54: 176-182. PMID 22115551 DOI: 10.1111/J.1469-8749.2011.04160.X |
0.349 |
|
| 2012 |
Cox TM, Cachón-González MB. The cellular pathology of lysosomal diseases Journal of Pathology. 226: 241-254. PMID 21990005 DOI: 10.1002/Path.3021 |
0.397 |
|
| 2012 |
Cox TM. Therapeutic opportunities for lysosomal diseases affecting the brain Clinical Medicine. 12. DOI: 10.7861/Clinmedicine.12-6-S33 |
0.364 |
|
| 2011 |
Deane JE, Graham SC, Kim NN, Stein PE, McNair R, Cachón-González MB, Cox TM, Reada RJ. Insights into Krabbe disease from structures of galactocerebrosidase Proceedings of the National Academy of Sciences of the United States of America. 108: 15169-15173. PMID 21876145 DOI: 10.1073/Pnas.1105639108 |
0.363 |
|
| 2011 |
Deegan PB, Pavlova E, Tindall J, Stein PE, Bearcroft P, Mehta A, Hughes D, Wraith JE, Cox TM. Osseous manifestations of adult gaucher disease in the era of enzyme replacement therapy Medicine. 90: 52-60. PMID 21200186 DOI: 10.1097/Md.0B013E3182057Be4 |
0.351 |
|
| 2011 |
Pavlova EV, Deegan PB, Tindall J, McFarlane I, Mehta A, Hughes D, Wraith JE, Cox TM. Potential biomarkers of osteonecrosis in Gaucher disease Blood Cells, Molecules, and Diseases. 46: 27-33. PMID 21075651 DOI: 10.1016/J.Bcmd.2010.10.010 |
0.3 |
|
| 2011 |
Pastores GM, Fernhoff PM, Szer J, Petakov M, Cox TM, Giraldo P, Rosenbaum H, Amato DJ, Mengel E, Chertkoff R, Almon-Brill E, Zimran A. Plant Cell Expressed Recombinant Glucocerebrosidase - Taliglucerase alfa as Therapy for Gaucher Disease in Patients Previously Treated with Imiglucerase Molecular Genetics and Metabolism. 105. DOI: 10.1016/J.Ymgme.2011.11.126 |
0.324 |
|
| 2010 |
Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics : Targets & Therapy. 4: 299-313. PMID 21209725 DOI: 10.2147/Btt.S7582 |
0.407 |
|
| 2010 |
Cox TM. Recommendations for treating patients with Gaucher disease with emerging enzyme products Blood Cells, Molecules, and Diseases. 44: 84-85. PMID 20022772 DOI: 10.1016/J.Bcmd.2009.12.001 |
0.34 |
|
| 2010 |
Hollak CEM, Aerts JMFG, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, et al. Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease Blood Cells, Molecules, and Diseases. 44: 86-87. PMID 20022271 DOI: 10.1016/J.Bcmd.2009.12.002 |
0.353 |
|
| 2010 |
Griffiths WJH, Mayr R, McFarlane I, Hermann M, Halsall DJ, Zoller H, Cox TM. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation Hepatology. 51: 788-795. PMID 19937651 DOI: 10.1002/Hep.23377 |
0.364 |
|
| 2010 |
Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek M, Parini R, ... ... Cox TM, et al. Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells, Molecules & Diseases. 44: 41-7. PMID 19804996 DOI: 10.1016/J.Bcmd.2009.09.006 |
0.364 |
|
| 2009 |
Jeyakumar M, Williams I, Smith DA, Cox TM, Platt FM. Critical role of iron in the pathogenesis of the murine gangliosidoses Neurobiology of Disease. 34: 406-416. PMID 19449457 DOI: 10.1016/J.Nbd.2009.01.015 |
0.304 |
|
| 2009 |
Weinreb N, Cappellini M, Cox T, Giannini E, Grabowski G, Hwu W, Mankin H, Martins AM, Dahl Sv, Yeh M, Zimran A. 148. A validated disease severity scoring system for gaucher disease type 1 Molecular Genetics and Metabolism. 96. DOI: 10.1016/J.Ymgme.2008.11.149 |
0.351 |
|
| 2008 |
Wang SZ, Cachón-González MB, Stein PE, Lachmann RH, Corry PC, Wraith JE, Cox TM. A novel HEXB mutation and its structural effects in juvenile Sandhoff disease Molecular Genetics and Metabolism. 95: 236-238. PMID 18930675 DOI: 10.1016/J.Ymgme.2008.08.007 |
0.358 |
|
| 2008 |
Weinreb N, Taylor J, Cox T, Yee J, vom Dahl S. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. American Journal of Hematology. 83: 890-5. PMID 18819093 DOI: 10.1002/Ajh.21280 |
0.34 |
|
| 2008 |
Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki-Szymanska A, Yee J, et al. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal of Inherited Metabolic Disease. 31: 319-36. PMID 18509745 DOI: 10.1007/S10545-008-0779-Z |
0.374 |
|
| 2008 |
Zimran A, Cappellini M, Cox T, Giannini E, Grabowski GA, Hwu W, Mankin H, Martins AM, Sawyer C, Dahl Sv, Weinreb N, Yeh M. 117. Development of a disease severity scoring system for type I Gaucher disease Molecular Genetics and Metabolism. 93: 45. DOI: 10.1016/J.Ymgme.2007.10.129 |
0.356 |
|
| 2007 |
Beck M, Cox TM, Gal A, Mehta AB. Sixth International Symposium on Lysosomal Storage Diseases Acta Paediatrica, International Journal of Paediatrics. 96: 1-2. DOI: 10.1111/J.1651-2227.2007.00195.X |
0.356 |
|
| 2006 |
Cachón-González MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM. Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proceedings of the National Academy of Sciences of the United States of America. 103: 10373-8. PMID 16801539 DOI: 10.1073/Pnas.0603765103 |
0.369 |
|
| 2006 |
Roos JC, Wang SZ, Cox TM. Gaucher Disease Psychosine Mis-Traffics Endocytosed Cargo to a Non-Functional, Pre-Lysosomal Compartment. Blood. 108: 1270-1270. DOI: 10.1182/Blood.V108.11.1270.1270 |
0.345 |
|
| 2006 |
Martin DR, Cachon-Gonzalez B, Sena- Esteves M, Hwang M, Gentry AS, Morrison NE, Cox NR, Cox TM, Baker HJ. 889. Adeno-Associated Virus Gene Therapy of Feline Gangliosidosis Molecular Therapy. 13: S342. DOI: 10.1016/J.Ymthe.2006.08.978 |
0.325 |
|
| 2005 |
Zoller H, Cox TM. Hemochromatosis: genetic testing and clinical practice. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 3: 945-58. PMID 16234038 DOI: 10.1016/S1542-3565(05)00607-5 |
0.341 |
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| 2005 |
Deegan PB, Moran MT, McFarlane I, Schofield JP, Boot RG, Aerts JM, Cox TM. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells, Molecules & Diseases. 35: 259-67. PMID 16125420 DOI: 10.1016/J.Bcmd.2005.05.005 |
0.371 |
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| 2005 |
Zoller H, McFarlane I, Theurl I, Stadlmann S, Nemeth E, Oxley D, Ganz T, Halsall DJ, Cox TM, Vogel W. Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease. Hepatology (Baltimore, Md.). 42: 466-72. PMID 15986403 DOI: 10.1002/Hep.20775 |
0.363 |
|
| 2005 |
Roos JC, Cox TM. Glycogen storage diseases and cardiomyopathy. The New England Journal of Medicine. 352: 2553; author reply 2. PMID 15958815 DOI: 10.1056/Nejm200506163522417 |
0.357 |
|
| 2005 |
Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatrica (Oslo, Norway : 1992). Supplement. 94: 69-75; discussion 57. PMID 15895716 DOI: 10.1111/J.1651-2227.2005.Tb02116.X |
0.383 |
|
| 2005 |
Deegan PB, Cox TM. Clinical evaluation of biomarkers in Gaucher disease. Acta Paediatrica (Oslo, Norway : 1992). Supplement. 94: 47-50; discussion 37. PMID 15895712 DOI: 10.1111/J.1651-2227.2005.Tb02111.X |
0.358 |
|
| 2005 |
Cox TM. Biomarkers in lysosomal storage diseases: a review. Acta Paediatrica (Oslo, Norway : 1992). Supplement. 94: 39-42; discussion 37. PMID 15895710 DOI: 10.1111/J.1651-2227.2005.Tb02109.X |
0.371 |
|
| 2005 |
Whitfield PD, Calvin J, Hogg S, O'Driscoll E, Halsall D, Burling K, Maguire G, Wright N, Cox TM, Meikle PJ, Deegan PB. Monitoring enzyme replacement therapy in Fabry disease - Role of urine globotriaosylceramide Journal of Inherited Metabolic Disease. 28: 21-33. PMID 15702403 DOI: 10.1007/S10545-005-4415-X |
0.365 |
|
| 2004 |
Elstein D, Hollak C, Aerts JM, van Weely S, Maas M, Cox TM, Lachmann RH, Hrebicek M, Platt FM, Butters TD, Dwek RA, Zimran A. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. Journal of Inherited Metabolic Disease. 27: 757-66. PMID 15505381 DOI: 10.1023/B:Boli.0000045756.54006.17 |
0.324 |
|
| 2004 |
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szyma?ska A. Therapeutic goals in the treatment of Gaucher disease. Seminars in Hematology. 41: 4-14. PMID 15468045 DOI: 10.1053/J.Seminhematol.2004.07.009 |
0.404 |
|
| 2004 |
Lachmann RH, Grant IR, Halsall D, Cox TM. Twin pairs showing discordance of phenotype in adult Gaucher's disease. Qjm : Monthly Journal of the Association of Physicians. 97: 199-204. PMID 15028849 DOI: 10.1093/Qjmed/Hch036 |
0.382 |
|
| 2004 |
Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 103: 4317-21. PMID 14982873 DOI: 10.1182/Blood-2004-01-0192 |
0.32 |
|
| 2004 |
Roetto A, Daraio F, Porporato P, Caruso R, Cox TM, Cazzola M, Gasparini P, Piperno A, Camaschella C. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 103: 2407-9. PMID 14630809 DOI: 10.1182/Blood-2003-10-3390 |
0.332 |
|
| 2004 |
Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B, van Breemen MJ, van Meurs M, Boven LA, Laman JD, Moran MT, Cox TM, Aerts JM. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 103: 33-9. PMID 12969956 DOI: 10.1182/Blood-2003-05-1612 |
0.342 |
|
| 2003 |
Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, Chertkoff R, Vom Dahl S, Elstein D, Erikson A, Giralt M, Heitner R, Hollak C, Hrebicek M, Lewis S, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. Journal of Inherited Metabolic Disease. 26: 513-26. PMID 14605497 DOI: 10.1023/A:1025902113005 |
0.395 |
|
| 2003 |
Cox TM. Future perspectives for glycolipid research in medicine. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 358: 967-73. PMID 12803931 DOI: 10.1098/Rstb.2003.1270 |
0.341 |
|
| 2001 |
Cox TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. Journal of Inherited Metabolic Disease. 24: 106-21; discussion 8. PMID 11758671 DOI: 10.1023/A:1012496514170 |
0.417 |
|
| 2001 |
Kelly AL, Lunt PW, Rodrigues F, Berry PJ, Flynn DM, McKiernan PJ, Kelly DA, Mieli-Vergani G, Cox TM. Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. Journal of Medical Genetics. 38: 599-610. PMID 11546828 DOI: 10.1136/Jmg.38.9.599 |
0.349 |
|
| 2001 |
Cox TM. Gaucher's disease - An exemplary monogenic disorder Qjm - Monthly Journal of the Association of Physicians. 94: 399-402. PMID 11493715 DOI: 10.1093/Qjmed/94.8.399 |
0.377 |
|
| 2001 |
Platt FM, Jeyakumar M, Andersson U, Priestman DA, Dwek RA, Butters TD, Cox TM, Lachmann RH, Hollak C, Aerts JMFG, Van Weely S, Hrebícek M, Moyses C, Gow I, Elstein D, et al. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy Journal of Inherited Metabolic Disease. 24: 275-290. PMID 11405346 DOI: 10.1023/A:1010335505357 |
0.421 |
|
| 2001 |
Hayman AR, Macary P, Lehner PJ, Cox TM. Tartrate-resistant acid phosphatase (Acp 5): Identification in diverse human tissues and dendritic cells Journal of Histochemistry and Cytochemistry. 49: 675-683. PMID 11373314 DOI: 10.1177/002215540104900601 |
0.301 |
|
| 2000 |
Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K Blood. 96: 1969-1978. PMID 10961902 DOI: 10.1182/Blood.V96.5.1969.H8001969_1969_1978 |
0.351 |
|
| 2000 |
Cox T, Lachmann R, Hollak C, Aerts J, Van Weely S, Hrebícek M, Platt F, Butters T, Dwek R, Moyses C, Gow I, Elstein D, Zimran A. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis Lancet. 355: 1481-1485. PMID 10801168 DOI: 10.1016/S0140-6736(00)02161-9 |
0.374 |
|
| 2000 |
Lachmann RH, Wight DGD, Lomas DJ, Fisher NC, Schofield JP, Elias E, Cox TM. Massive hepatic fibrosis in Gaucher's disease: Clinicopathological and radiological features Qjm - Monthly Journal of the Association of Physicians. 93: 237-244. PMID 10787452 DOI: 10.1093/Qjmed/93.4.237 |
0.36 |
|
| 2000 |
Cox T. Treatment of Gaucher's disease with OGT 918 The Lancet. 356: 676-677. DOI: 10.1016/S0140-6736(05)73819-8 |
0.332 |
|
| 1999 |
Schofield JP, Cox TM, Caskey CT, Wakamiya M. Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia. Hepatology (Baltimore, Md.). 29: 181-5. PMID 9862865 DOI: 10.1002/Hep.510290112 |
0.326 |
|
| 1998 |
Kelly AL, Rhodes DA, Roland JM, Schofield P, Cox TM. Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. Qjm : Monthly Journal of the Association of Physicians. 91: 607-18. PMID 10024915 DOI: 10.1093/Qjmed/91.9.607 |
0.353 |
|
| 1997 |
Cox TM, Schofield JP. Gaucher's disease: Clinical features and natural history Bailliere's Clinical Haematology. 10: 657-689. PMID 9497857 DOI: 10.1016/S0950-3536(97)80033-9 |
0.416 |
|
| 1996 |
Mistry PK, Wraight EP, Cox TM. Therapeutic delivery of proteins to macrophages: Implications for treatment of Gaucher's disease Lancet. 348: 1555-1559. PMID 8950883 DOI: 10.1016/S0140-6736(96)04451-0 |
0.342 |
|
| 1995 |
Sarkany RPE, Cox TM. Autosomal recessive erythropoietic protoporphyria: A syndrome of severe photosensitivity and liver failure Qjm. 88: 541-549. PMID 7648240 DOI: 10.1093/Oxfordjournals.Qjmed.A069099 |
0.322 |
|
| 1994 |
Cox TM. Aldolase B and fructose intolerance Faseb Journal. 8: 62-71. PMID 8299892 DOI: 10.1096/Fasebj.8.1.8299892 |
0.303 |
|
| 1994 |
Sarkany RPE, Alexander GJMA, Cox TM. Recessive inheritance of erythropoietic protoporphyria with liver failure The Lancet. 343: 1394-1396. PMID 7934373 DOI: 10.1016/S0140-6736(94)92314-0 |
0.329 |
|
| 1993 |
Cox TM. Gaucher's disease: a brand leader The Lancet. 342: 694-695. PMID 8103817 DOI: 10.1016/0140-6736(93)91703-O |
0.334 |
|
| 1992 |
Mistry PK, Smith SJ, Ali M, Cox TM, Hatton CSR, McIntyre N. Genetic diagnosis of Gaucher's disease The Lancet. 339: 889-892. PMID 1348297 DOI: 10.1016/0140-6736(92)90928-V |
0.366 |
|
| 1985 |
Cox TM, O'Donnell MW, Aisen P, London IM. Biosynthesis of the transferrin receptor in rabbit reticulocytes. The Journal of Clinical Investigation. 76: 2144-50. PMID 3001142 DOI: 10.1172/Jci112220 |
0.507 |
|
| 1985 |
Cox TM, O'Donnell MW, Aisen P, London IM. Hemin inhibits internalization of transferrin by reticulocytes and promotes phosphorylation of the membrane transferrin receptor. Proceedings of the National Academy of Sciences of the United States of America. 82: 5170-4. PMID 2991909 DOI: 10.1073/Pnas.82.15.5170 |
0.521 |
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