PubRank

Narihiro Minami

Author PubWeight™ 18.18‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet 2010 1.10
2 Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 2006 1.08
3 Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population. Hum Mutat 2004 1.03
4 Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Neuromuscul Disord 2005 1.00
5 Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. J Biochem 2003 0.94
6 Dysferlinopathy associated with rigid spine syndrome. Neuropathology 2004 0.93
7 Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population. Drug Metab Pharmacokinet 2005 0.88
8 Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients. Eur J Clin Pharmacol 2005 0.87
9 Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling. Neurosci Res 2007 0.85
10 Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. J Neuropathol Exp Neurol 2009 0.85
11 Functional characterization of five novel CYP2C8 variants, G171S, R186X, R186G, K247R, and K383N, found in a Japanese population. Drug Metab Dispos 2005 0.84
12 Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies. PLoS One 2012 0.83
13 Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations. Drug Metab Pharmacokinet 2002 0.82
14 Homozygous female Becker muscular dystrophy. Am J Med Genet A 2009 0.82
15 CYP2C8 haplotype structures and their influence on pharmacokinetics of paclitaxel in a Japanese population. Pharmacogenet Genomics 2007 0.80
16 Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman. Neuromuscul Disord 2005 0.79
17 Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring variant enzymes. J Pharmacol Exp Ther 2003 0.79
18 Myotonic dystrophy type 2 is rare in the Japanese population. J Hum Genet 2012 0.79
19 Oculopharyngeal muscular dystrophy associated with dementia. Intern Med 2011 0.78
20 Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. J Neurol 2012 0.78
21 Twenty-six novel single nucleotide polymorphisms and their frequencies of the NR1I3 (CAR) gene in a Japanese population. Drug Metab Pharmacokinet 2003 0.77
22 Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. Acta Neuropathol 2010 0.76
23 [Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]. Rinsho Shinkeigaku 2008 0.75
24 Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. J Hum Genet 2017 0.75
25 Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. J Hum Genet 2013 0.75
26 Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase. Drug Metab Pharmacokinet 2003 0.75
27 [Appearance of numerous lobulated fibers after a protracted course of 18 years in a case of dermatomyositis]. Rinsho Shinkeigaku 2003 0.75