PubRank

Emanuele Bellacchio

Author PubWeight™ 31.09‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 2006 3.97
2 Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet 2005 3.76
3 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol 2006 1.89
4 TRIB3 R84 variant is associated with impaired insulin-mediated nitric oxide production in human endothelial cells. Arterioscler Thromb Vasc Biol 2008 1.79
5 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet 2005 1.53
6 Calcium EXAFS establishes the Mn-Ca cluster in the oxygen-evolving complex of photosystem II. Biochemistry 2002 1.47
7 Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 2009 1.16
8 Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia. Hum Mutat 2004 1.14
9 Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009 1.11
10 ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression. Haematologica 2011 1.08
11 Sgk1 activates MDM2-dependent p53 degradation and affects cell proliferation, survival, and differentiation. J Mol Med (Berl) 2009 1.08
12 Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet 2010 1.06
13 Targeting proliferating cell nuclear antigen and its protein interactions induces apoptosis in multiple myeloma cells. PLoS One 2013 0.95
14 Are MYO1C and MYO1F associated with hearing loss? Biochim Biophys Acta 2008 0.95
15 Human papillomavirus-16 E7 interacts with glutathione S-transferase P1 and enhances its role in cell survival. PLoS One 2009 0.89
16 The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells. Atherosclerosis 2011 0.86
17 Redox regulation of cyclophilin A by glutathionylation. Proteomics 2006 0.83
18 Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. Am J Med Genet A 2009 0.82
19 A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. Oral Health Dent Manag 2014 0.80
20 Bile salt export pump deficiency: A de novo mutation in a child compound heterozygous for ABCB11. Laboratory investigation to study pathogenic role and transmission of two novel ABCB11 mutations. Hepatol Res 2013 0.80
21 Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. Eur J Paediatr Neurol 2013 0.80
22 The human papillomavirus-16 E7 oncoprotein exerts antiapoptotic effects via its physical interaction with the actin-binding protein gelsolin. Carcinogenesis 2013 0.79
23 Interaction between the Cdk2/cyclin A complex and a small molecule derived from the pRb2/p130 spacer domain: a theoretical model. Cell Cycle 2007 0.78
24 A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED). Gene 2012 0.77
25 Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3. Dig Liver Dis 2011 0.77
26 Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. Muscle Nerve 2014 0.75
27 Gene symbol: FOXE1. Disease: Nonsyndromic cleft palate. Accession #Hm0535. Hum Genet 2006 0.75
28 Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss. Int J Pediatr Otorhinolaryngol 2009 0.75