PubRank

Michael J Bennett

Author PubWeight™ 83.56‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The cardiac phenotype induced by PPARalpha overexpression mimics that caused by diabetes mellitus. J Clin Invest 2002 4.22
2 Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice. Nat Genet 2003 3.78
3 The mitochondrial inner membrane protein mitofilin controls cristae morphology. Mol Biol Cell 2005 2.53
4 HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner. Blood 2004 1.99
5 Fatty acid oxidation disorders. Annu Rev Physiol 2002 1.96
6 Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration. Nat Med 2012 1.87
7 Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr 2010 1.75
8 Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem 2010 1.68
9 Sphingolipid-based drugs selectively kill cancer cells by down-regulating nutrient transporter proteins. Biochem J 2011 1.59
10 Assessment of a method to expel intraperitoneal gas after gynecologic laparoscopy. J Minim Invasive Gynecol 2005 1.41
11 Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Clin Chem 2007 1.37
12 Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest 2003 1.13
13 Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab 2003 1.11
14 CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Ann Neurol 2006 1.08
15 Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 2003 1.07
16 Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency. Biochem Biophys Res Commun 2007 1.04
17 Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab 2008 1.03
18 PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis 2011 1.01
19 Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine. J Biol Chem 2012 1.00
20 National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin Chem 2009 1.00
21 Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Mol Genet Metab 2007 0.98
22 Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site. J Biol Chem 2011 0.98
23 The function of CLN3P, the Batten disease protein. Mol Genet Metab 2008 0.93
24 Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. Mol Genet Metab 2012 0.93
25 General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res 2003 0.92
26 CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). Biochem Biophys Res Commun 2004 0.92
27 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab 2008 0.92
28 Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS One 2009 0.88
29 Birefringence and DNA condensation of liquid crystalline chromosomes. Eukaryot Cell 2010 0.87
30 Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis 2011 0.87
31 Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. Mol Genet Metab 2006 0.87
32 Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. Am J Obstet Gynecol 2002 0.86
33 Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. PLoS Genet 2013 0.85
34 Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet 2008 0.85
35 Emergency peripartum hysterectomy: a 10-year review at the Royal Hospital for Women, Sydney. Aust N Z J Obstet Gynaecol 2011 0.85
36 Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome). Am J Dermatopathol 2004 0.84
37 The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta 2002 0.84
38 Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 2004 0.84
39 The AGREE II instrument is helpful for creation of National Academy of Clinical Biochemistry laboratory medicine practice guidelines. Clin Chem 2012 0.83
40 Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition. Pediatr Dev Pathol 2012 0.82
41 Establishing a reference interval for measurement of flux through the mitochondrial fatty acid oxidation pathway in cultured skin fibroblasts. Clin Chem 2005 0.82
42 Increased ratio of saturated to unsaturated C18 fatty acids in colonic adenocarcinoma: implications for cryotherapy and lipid raft function. Med Hypotheses 2005 0.82
43 Systemic and mucosal antibody responses following retroductal gene transfer to the salivary gland. Mol Ther 2003 0.82
44 Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers. Biochim Biophys Acta 2010 0.81
45 Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review. Lab Invest 2002 0.81
46 Urine organic acid analysis for inherited metabolic disease using gas chromatography-mass spectrometry. Methods Mol Biol 2010 0.81
47 Measurement of plasma amino acids by Ultraperformance® Liquid Chromatography. Clin Chem Lab Med 2011 0.81
48 Treatment of a methylmalonyl-CoA mutase stopcodon mutation. Biochem Biophys Res Commun 2012 0.81
49 Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease). Biochem Biophys Res Commun 2013 0.81
50 Müllerian dysgenesis: a review of recent outcomes at Royal Hospital for Women. Aust N Z J Obstet Gynaecol 2006 0.81
51 Power doppler ultrasound assessment of the relationship between age and ovarian perifollicular blood flow in women undergoing in vitro fertilization treatment. J Assist Reprod Genet 2006 0.81
52 Galactosemia diagnosis gets an upgrade. Clin Chem 2010 0.80
53 Salivary gland genetic vaccination: a scalable technology for promoting distal mucosal immunity and heightened systemic immune responses. Vaccine 2004 0.80
54 Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency. Muscle Nerve 2002 0.79
55 Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2002 0.79
56 Zinc enhancement of nonviral salivary gland transfection. Mol Ther 2003 0.79
57 Flow injection tandem mass spectrometric measurement of ceramides of multiple chain lengths in biological samples. J Chromatogr B Analyt Technol Biomed Life Sci 2011 0.79
58 Do women's perceptions of care at the time of unexplained stillbirth influence their wishes for management in subsequent pregnancy? An Internet-based empirical study. J Obstet Gynaecol Res 2010 0.79
59 Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation. Clin Chem Lab Med 2006 0.79
60 Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. Curr Mol Med 2007 0.79
61 Effect of L-carnitine supplementation on cardiac carnitine palmitoyltransferase activities and plasma carnitine concentrations in adriamycin-treated rats. Pediatr Res 2003 0.79
62 Clinical applications of 3-hydroxy fatty acid analysis by gas chromatography-mass spectrometry. Biochim Biophys Acta 2011 0.79
63 Addition of quantitative 3-hydroxy-octadecanoic acid to the stable isotope gas chromatography-mass spectrometry method for measuring 3-hydroxy fatty acids. Clin Chem 2002 0.79
64 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 2006 0.78
65 Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy. Pediatr Res 2002 0.78
66 Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. PLoS One 2012 0.78
67 Power Doppler ultrasound assessment of ovarian perifollicular blood flow in women with polycystic ovaries and normal ovaries during in vitro fertilization treatment. Fertil Steril 2005 0.78
68 A rapid ultra performance liquid chromatography tandem mass spectrometric method for measuring amino acids associated with maple syrup urine disease, tyrosinaemia and phenylketonuria. Ann Clin Biochem 2007 0.78
69 Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry. Methods Mol Biol 2010 0.78
70 Urinary catheter stent placement for treatment of cervical stenosis. Aust N Z J Obstet Gynaecol 2007 0.78
71 Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. Toxicol Sci 2012 0.77
72 Intermediate levels of neuronal palmitoyl-protein Delta-9 desaturase in heterozygotes for murine Batten disease. Mol Genet Metab 2007 0.77
73 Effects of odd-numbered medium-chain fatty acids on the accumulation of long-chain 3-hydroxy-fatty acids in long-chain L-3-hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficient skin fibroblasts. Mol Genet Metab 2004 0.77
74 Medium-chain fatty acids undergo elongation before beta-oxidation in fibroblasts. Biochem Biophys Res Commun 2006 0.76
75 3-Hydroxy-fatty acid analysis by gas chromatography-mass spectrometry. Methods Mol Biol 2010 0.76
76 Consensus statement: Menstrual and contraceptive management in women with an intellectual disability. Aust N Z J Obstet Gynaecol 2003 0.76
77 Women's expectations of management in their next pregnancy after an unexplained stillbirth: an Internet-based empirical study. Aust N Z J Obstet Gynaecol 2009 0.76
78 CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. Brain 2004 0.76
79 Untargeted metabolomic analysis hits the target. Clin Chem 2007 0.75
80 Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) Mice. Pediatr Res 2004 0.75
81 Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome. Am J Med Genet B Neuropsychiatr Genet 2007 0.75
82 Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD). J Inherit Metab Dis 2012 0.75
83 The use of Deconvolution Reporting Software and backflush improves the speed and accuracy of data processing for urinary organic acid analysis. Clin Chim Acta 2009 0.75
84 Increased C3-carnitine in a healthy premature infant. Clin Chem 2008 0.75
85 Basic considerations in the use of coded excitation for color flow imaging applications. IEEE Trans Ultrason Ferroelectr Freq Control 2009 0.75
86 Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. J Pediatr 2002 0.75
87 Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. Methods Mol Biol 2010 0.75
88 Regional assessment of lung function using thin-plate splines to align structural and functional imaging. Conf Proc IEEE Eng Med Biol Soc 2015 0.75
89 Screening for MCAD deficiency in newborns. BMJ 2009 0.75
90 Consensus statement: The management of congenital genital tract anomalies in women. Aust N Z J Obstet Gynaecol 2003 0.75
91 Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. Am J Med Genet A 2004 0.75
92 The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr 2006 0.75
93 Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. Mol Genet Metab 2012 0.75
94 Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects. Clin Chim Acta 2006 0.75
95 Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency. Pediatr Res 2003 0.75