PubRank

M Brantly

Author PubWeight™ 36.54‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nat Genet 1996 4.00
2 Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc Natl Acad Sci U S A 1998 2.80
3 Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998 2.42
4 Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth. Biochemistry 1986 2.28
5 Is rotavirus a population of reassortants? Trends Microbiol 1995 1.55
6 Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. J Clin Invest 1986 1.47
7 Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes. N Engl J Med 1986 1.41
8 Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Am J Hum Genet 1988 1.37
9 alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem 1987 1.24
10 Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology 1995 1.03
11 Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency. Ann Allergy 1994 1.00
12 Inhibition of intracellular degradation increases secretion of a mutant form of alpha1-antitrypsin associated with profound deficiency. J Clin Invest 1998 0.98
13 Intradermal alpha1-antitrypsin therapy avoids fatal anaphylaxis, prevents type 1 diabetes and reverses hyperglycaemia in the NOD mouse model of the disease. Diabetologia 2010 0.97
14 Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida. J Biol Chem 1988 0.97
15 Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin. J Clin Invest 1989 0.96
16 Inhibition of recombinant adeno-associated virus (rAAV) transduction by bronchial secretions from cystic fibrosis patients. Gene Ther 2000 0.96
17 Pulmonary dysfunction in adults with nephropathic cystinosis. Chest 2001 0.94
18 Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype. Biochemistry 1987 0.91
19 Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med 2000 0.87
20 Characterization of the molecular basis of the alpha 1-antitrypsin F allele. Am J Hum Genet 1991 0.85
21 Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA. Mol Genet Metab 1998 0.84
22 Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing. Hum Mol Genet 1993 0.82
23 Efficient in vivo catheter-based pericardial gene transfer mediated by adenoviral vectors. Clin Cardiol 1999 0.80
24 Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency. Chest 2000 0.80
25 Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Hum Mutat 1995 0.79
26 Human alpha 1-antitrypsin therapy induces fatal anaphylaxis in non-obese diabetic mice. Clin Exp Immunol 2008 0.79
27 Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte. Hum Mutat 1993 0.78
28 Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state. Am Rev Respir Dis 1989 0.78
29 Heparin as a pharmacologic intervention to induce positive scintiscan in occult gastrointestinal bleeding. Clin Nucl Med 1984 0.77
30 Rapid development of hepatic alpha1-antitrypsin globules after liver transplantation for chronic hepatitis C. Gastroenterology 1997 0.76
31 alpha 1-antitrypsin deficiency. Monaldi Arch Chest Dis 1998 0.75