PubRank

E Mantuano

Author PubWeight™ 13.62‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995 1.29
2 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997 1.20
3 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 2001 1.05
4 The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998 1.03
5 Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc Natl Acad Sci U S A 1994 0.98
6 DNA polymorphisms of apolipoprotein B and angiotensin I-converting enzyme genes and relationships with lipid levels in Italian patients with vascular dementia or Alzheimer's disease. Dement Geriatr Cogn Disord 1998 0.96
7 Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. Am J Hum Genet 1995 0.90
8 Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. Ann Hum Genet 1996 0.84
9 Apolipoprotein E (APOE) allele frequencies in late-onset sporadic Alzheimer's disease (AD), mixed dementia and vascular dementia: lack of association of epsilon 4 allele with AD in Italian octogenarian patients. Neurosci Lett 1995 0.84
10 Apolipoproteins B and E, and angiotensin I-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels. Clin Genet 1997 0.81
11 Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador. Hum Biol 1997 0.78
12 Comparative effects of 17beta-estradiol and phytoestrogens in the regulation of endometrial functions in the rodent uterus. J Endocrinol Invest 2008 0.78
13 A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene 2000 0.78
14 C-reactive protein in patients on chronic hemodialysis with different techniques and different membranes. Biomed Pharmacother 2005 0.77
15 Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. Brain 1997 0.76
16 Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. Immunodeficiency 1993 0.75
17 Evidence for linkage equilibrium between two RFLPs associated with the human SST locus. Hum Genet 1988 0.75
18 Safety and effects on the lipid and C-reactive protein plasma concentration of the association of ezetimibe plus atorvastatin in renal transplant patients treated by cyclosporine-A: a pilot study. Biomed Pharmacother 2006 0.75
19 DNA restriction fragment analysis of the somatostatin gene in familial isolated growth hormone deficiency type I. Hum Hered 1992 0.75
20 Restriction fragment length polymorphism of the D1S1 locus in Italy. Hum Hered 1988 0.75
21 Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). Br J Haematol 1998 0.75
22 Restriction fragment length polymorphism of the D5S4 locus in Italy. Hum Hered 1990 0.75
23 Genetic variations of insulin-like growth factor I in Italy. Hum Hered 1988 0.75
24 Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS). DNA Cell Biol 1993 0.75
25 Multiple restriction site polymorphism at the human somatostatin locus: a population study in Italy. Hum Hered 1988 0.75
26 Effect of some thiol reagents on erythrocyte adenosine deaminase (ADA) activity. Enzyme 1988 0.75