PubRank

Hiroyuki Awano

Author PubWeight™ 17.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet 2010 2.25
2 A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. Mol Genet Metab 2010 1.06
3 Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun 2011 1.05
4 Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon. Hum Mutat 2011 0.96
5 Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy. J Hum Genet 2007 0.87
6 High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. Pediatr Neurol 2008 0.86
7 Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. Pediatr Int 2009 0.85
8 Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers. BMC Genet 2012 0.83
9 Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients. Clin Chim Acta 2008 0.82
10 A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. Gene 2012 0.82
11 Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy. Am J Cardiol 2012 0.82
12 Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene. Genet Test Mol Biomarkers 2009 0.81
13 Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity. Mol Vis 2010 0.80
14 Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene. J Hum Genet 2009 0.78
15 Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events. Hum Genet 2015 0.78
16 Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system. Nucleic Acid Ther 2011 0.78
17 A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. Mol Genet Metab 2011 0.77
18 Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28. J Hum Genet 2012 0.77
19 A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old. Clin Chim Acta 2013 0.76
20 Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. BMC Med Genet 2010 0.75
21 [Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections]. No To Hattatsu 2014 0.75
22 A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations. Genet Test Mol Biomarkers 2011 0.75
23 [Clinical manifestations of three neonates with family histories of Menkes disease]. No To Hattatsu 2014 0.75
24 Two closely spaced nonsense mutations in the DMD gene in a Malaysian family. Mol Genet Metab 2011 0.75
25 Rapid progression of neuromuscular disorder related cardiomyopathy in a young patient. Intern Med 2013 0.75