PubRank

Timothy M Cox

Author PubWeight™ 48.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004 2.29
2 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. Anal Chem 2008 1.69
3 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004 1.59
4 GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Dev Med Child Neurol 2011 1.56
5 Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis 2009 1.54
6 Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 2004 1.50
7 Orphan drug pricing may warrant a competition law investigation. BMJ 2010 1.45
8 Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2003 1.44
9 Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 2011 1.22
10 Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci U S A 2006 1.18
11 Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005 1.11
12 Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther 2012 1.10
13 Insights into Krabbe disease from structures of galactocerebrosidase. Proc Natl Acad Sci U S A 2011 1.03
14 A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med 2010 1.01
15 Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. Mol Ther 2012 0.97
16 Tartrate-resistant acid phosphatase knockout mice. J Bone Miner Res 2003 0.97
17 Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. Mol Ther 2013 0.97
18 The legal imperative for treating rare disorders. Orphanet J Rare Dis 2013 0.97
19 Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease. Hepatology 2005 0.95
20 Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest 2014 0.92
21 Altered collagen in tartrate-resistant acid phosphatase (TRAP)-deficient mice: a role for TRAP in bone collagen metabolism. Calcif Tissue Int 2007 0.91
22 Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. J Histochem Cytochem 2003 0.90
23 Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain. Hum Mol Genet 2011 0.90
24 Reversibility of neuropathology in Tay-Sachs-related diseases. Hum Mol Genet 2013 0.89
25 Hemochromatosis: genetic testing and clinical practice. Clin Gastroenterol Hepatol 2005 0.88
26 Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control study. Hum Mol Genet 2003 0.88
27 Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy. J Pathol 2015 0.85
28 Potential biomarkers of osteonecrosis in Gaucher disease. Blood Cells Mol Dis 2010 0.84
29 Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. JIMD Rep 2012 0.84
30 Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev 2015 0.84
31 Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes. Haematologica 2012 0.83
32 Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload. Gastroenterology 2011 0.83
33 Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease. Blood Cells Mol Dis 2010 0.82
34 Imaging MALDI mass spectrometry of sphingolipids using an oscillating capillary nebulizer matrix application system. Methods Mol Biol 2010 0.82
35 Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. Hepatology 2010 0.82
36 TRACP Influences Th1 pathways by affecting dendritic cell function. J Bone Miner Res 2006 0.81
37 Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood 2003 0.79
38 Critical role of iron in the pathogenesis of the murine gangliosidoses. Neurobiol Dis 2009 0.79
39 Is cyclosporin the immunosuppressant of choice for liver transplantation for erythropoietic protoporphyria? Transpl Int 2007 0.78
40 Tartrate-resistant acid phosphatase: a potential target for therapeutic gold. Cell Biochem Funct 2004 0.77
41 Emerging therapeutic targets for Gaucher disease. Expert Opin Ther Targets 2014 0.76
42 Characterization of inducible models of Tay-Sachs and related disease. PLoS Genet 2012 0.76
43 Biomarkers for osteonecrosis in Gaucher disease. Expert Opin Med Diagn 2011 0.76
44 Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy. J Inherit Metab Dis 2010 0.76
45 Glycogen storage diseases and cardiomyopathy. N Engl J Med 2005 0.75
46 Giant osteoclast formation and long-term oral bisphosphonate therapy. N Engl J Med 2009 0.75
47 Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. JIMD Rep 2015 0.75
48 Latency vs saccadic parameters in lysosomal trials. Ophthalmology 2011 0.75
49 Recommendations for treating patients with Gaucher disease with emerging enzyme products. Blood Cells Mol Dis 2009 0.75
50 Alkaptonuria: treasure your exceptions. J Inherit Metab Dis 2011 0.75