Published in Epilepsia on November 13, 2012
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Functional and physical interactions between ERCC1 and MSH2 complexes for resistance to cis-diamminedichloroplatinum(II) in mammalian cells. DNA Repair (Amst) (2004) 1.14
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophys Res Commun (2004) 1.12
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A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. Am J Med Genet A (2006) 0.99
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A further case of renal tubular dysgenesis surviving the neonatal period. Eur J Pediatr (2008) 0.94
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The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum Mol Genet (2003) 0.91
The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet (2002) 0.90
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Involvement of medial temporal structures in reflexive attentional shift by gaze. Soc Cogn Affect Neurosci (2007) 0.89
The nutrient formula containing eicosapentaenoic acid and docosahexaenoic acid benefits the fatty acid status of patients receiving long-term enteral nutrition. Tohoku J Exp Med (2009) 0.89
Altered distribution of KCC2 in cortical dysplasia in patients with intractable epilepsy. Epilepsia (2007) 0.88
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet (2010) 0.88
The uterus sustains stable biological clock during pregnancy. Tohoku J Exp Med (2010) 0.88
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. J Hum Genet (2005) 0.88
Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophys Res Commun (2007) 0.87
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet (2007) 0.87