PubRank

R J Rodenburg

Author PubWeight™ 14.85‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mitochondrial disease criteria: diagnostic applications in children. Neurology 2006 1.58
2 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J Inherit Metab Dis 2012 0.97
3 The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases. Neurobiol Dis 2012 0.95
4 Development of an androgen reporter gene assay (AR-LUX) utilizing a human cell line with an endogenously regulated androgen receptor. Anal Biochem 2001 0.90
5 Transcriptional and post-transcriptional regulation of the human IGF-II gene expression. Adv Exp Med Biol 1993 0.89
6 The liver-specific promoter of the human insulin-like growth factor II gene is activated by CCAAT/enhancer binding protein (C/EBP). Nucleic Acids Res 1992 0.87
7 Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. JIMD Rep 2011 0.86
8 Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. J Inherit Metab Dis 2009 0.84
9 MR spectroscopy of the brain in Leigh syndrome. Brain Dev 2008 0.83
10 Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis. Biochim Biophys Acta 2011 0.82
11 Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr 2007 0.81
12 Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. J Inherit Metab Dis 2010 0.81
13 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. J Inherit Metab Dis 2008 0.80
14 Transcriptional regulation of the major promoters of the human IGF-II gene. Mol Reprod Dev 1993 0.80
15 Gene amplification in a human osteosarcoma cell line results in the persistence of the original chromosome and the formation of translocation chromosomes. Mutat Res 1992 0.79
16 Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system. Neuropediatrics 2006 0.77
17 A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. Mol Syndromol 2012 0.75
18 Transcriptional regulation of the human IGF-II gene. Ann N Y Acad Sci 1993 0.75