Published in Am J Med Genet A on June 01, 2007
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population (NPCPsy) | NCT02841358
Niemann-Pick disease type C. Orphanet J Rare Dis (2010) 4.86
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis (2013) 1.38
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis (2013) 1.33
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag (2009) 1.23
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. J Child Neurol (2012) 1.17
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res (2009) 1.12
Central ocular motor disorders, including gaze palsy and nystagmus. J Neurol (2014) 1.11
Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance. Hum Mol Genet (2010) 1.01
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis (2011) 1.00
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis (2012) 0.99
Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea. J Korean Med Sci (2016) 0.96
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis (2015) 0.94
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics (2009) 0.92
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry (2009) 0.92
Therapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease. Clin Lipidol (2012) 0.91
The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts. J Lipid Res (2008) 0.90
TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease. J Lipid Res (2008) 0.89
The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight. Gene (2013) 0.86
Gene-diet interactions in childhood obesity. Curr Genomics (2011) 0.86
Recovery from liver disease in a Niemann-Pick type C mouse model. J Lipid Res (2010) 0.85
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol (2013) 0.84
Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C. J Biol Chem (2014) 0.83
Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear (2013) 0.82
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. Nucleic Acid Ther (2014) 0.81
Differential Association of Niemann-Pick C1 Gene Polymorphisms with Maternal Prepregnancy Overweight and Gestational Diabetes. J Diabetes Obes (2015) 0.80
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients. Orphanet J Rare Dis (2014) 0.80
The Niemann-Pick C1 gene is downregulated in livers of C57BL/6J mice by dietary fatty acids, but not dietary cholesterol, through feedback inhibition of the SREBP pathway. J Nutr (2012) 0.80
Olfactory deficits in Niemann-Pick type C1 (NPC1) disease. PLoS One (2013) 0.78
Evaluation of an anti-tumor necrosis factor therapeutic in a mouse model of Niemann-Pick C liver disease. PLoS One (2010) 0.78
Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers. Orphanet J Rare Dis (2014) 0.77
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. J Assoc Res Otolaryngol (2014) 0.77
Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat. J Biol Chem (2016) 0.75
Secondary dystonia-clinical clues and syndromic associations. J Mov Disord (2009) 0.75
2012 update of the Canadian Cardiovascular Society guidelines for the diagnosis and treatment of dyslipidemia for the prevention of cardiovascular disease in the adult. Can J Cardiol (2013) 5.97
2009 Canadian Cardiovascular Society/Canadian guidelines for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease in the adult - 2009 recommendations. Can J Cardiol (2009) 5.65
Intelligence: new findings and theoretical developments. Am Psychol (2012) 4.74
Ontology-based meta-analysis of global collections of high-throughput public data. PLoS One (2010) 2.67
Contribution of intimal smooth muscle cells to cholesterol accumulation and macrophage-like cells in human atherosclerosis. Circulation (2014) 2.67
A public health collaboration for the surveillance of autism spectrum disorders. Paediatr Perinat Epidemiol (2007) 2.36
Increased ABCA1 activity protects against atherosclerosis. J Clin Invest (2002) 2.13
Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Teratology (2002) 1.94
Socioeconomic inequality in the prevalence of autism spectrum disorder: evidence from a U.S. cross-sectional study. PLoS One (2010) 1.93
Sulfhydryl oxidases: emerging catalysts of protein disulfide bond formation in eukaryotes. Arch Biochem Biophys (2002) 1.89
Risk perception for developing diabetes: comparative risk judgments of physicians. Diabetes Care (2003) 1.66
Administration of tyrosyl radical-oxidized HDL inhibits the development of atherosclerosis in apolipoprotein E-deficient mice. Arterioscler Thromb Vasc Biol (2003) 1.50
Adipophilin enhances lipid accumulation and prevents lipid efflux from THP-1 macrophages: potential role in atherogenesis. Arterioscler Thromb Vasc Biol (2004) 1.48
Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem (2003) 1.40
Transmission of Vibrio cholerae is antagonized by lytic phage and entry into the aquatic environment. PLoS Pathog (2008) 1.34
Generating disulfides in multicellular organisms: emerging roles for a new flavoprotein family. J Biol Chem (2007) 1.29
Rac2 is critical for neutrophil primary granule exocytosis. Blood (2004) 1.26
Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse. J Cell Biochem (2007) 1.25
The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Res A Clin Mol Teratol (2006) 1.24
Changes in autism spectrum disorder prevalence in 4 areas of the United States. Disabil Health J (2010) 1.23
Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy. J Child Neurol (2010) 1.12
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res (2009) 1.12
Human apolipoprotein A-IV reduces secretion of proinflammatory cytokines and atherosclerotic effects of a chronic infection mimicked by lipopolysaccharide. Arterioscler Thromb Vasc Biol (2004) 1.10
Incidence of pancreatitis, secondary causes, and treatment of patients referred to a specialty lipid clinic with severe hypertriglyceridemia: a retrospective cohort study. Lipids Health Dis (2011) 1.08
Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae. J Lipid Res (2002) 1.06
Contribution of monocyte-derived macrophages and smooth muscle cells to arterial foam cell formation. Cardiovasc Res (2012) 1.06
Prevalence of dyslipidemia in statin-treated patients in Canada: results of the DYSlipidemia International Study (DYSIS). Can J Cardiol (2010) 1.05
Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy. J Child Neurol (2010) 1.04
Cellular cholesterol substrate pools for adenosine-triphosphate cassette transporter A1-dependent high-density lipoprotein formation. Curr Opin Lipidol (2008) 1.04
ABCA1-dependent lipid efflux to apolipoprotein A-I mediates HDL particle formation and decreases VLDL secretion from murine hepatocytes. J Lipid Res (2004) 1.03
Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. J Pediatr (2013) 1.02
Hepatic CTP:phosphocholine cytidylyltransferase-alpha is a critical predictor of plasma high density lipoprotein and very low density lipoprotein. J Biol Chem (2007) 1.01
A pivotal role of the human kidney in catabolism of HDL protein components apolipoprotein A-I and A-IV but not of A-II. Lipids (2008) 1.00
Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice. Biochem J (2005) 0.99
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children. Pediatrics (2012) 0.94
Intramammary infusion of a live culture of Lactococcus lactis for treatment of bovine mastitis: comparison with antibiotic treatment in field trials. J Dairy Res (2008) 0.94
Use of complementary and alternative medical therapies among children with special health care needs in southern Arizona. Pediatrics (2003) 0.94
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol (2008) 0.93
ATP-binding cassette transporter A1 expression and apolipoprotein A-I binding are impaired in intima-type arterial smooth muscle cells. Circulation (2009) 0.92
Correction of apolipoprotein A-I-mediated lipid efflux and high density lipoprotein particle formation in human Niemann-Pick type C disease fibroblasts. J Biol Chem (2006) 0.92
Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010. MMWR Morb Mortal Wkly Rep (2015) 0.91
Fructose intake increases hyperlipidemia and modifies apolipoprotein expression in apolipoprotein AI-CIII-AIV transgenic mice. J Nutr (2002) 0.90
Systems approaches to the networks of aging. Ageing Res Rev (2006) 0.90
Amelioration of enteric neuropathology in a mouse model of Niemann-Pick C by Npc1 expression in enteric glia. J Neurosci Res (2009) 0.90
The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts. J Lipid Res (2008) 0.90
Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. Genet Med (2011) 0.89
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. J Biol Chem (2011) 0.88
Lack of phosphatidylethanolamine N-methyltransferase alters plasma VLDL phospholipids and attenuates atherosclerosis in mice. Arterioscler Thromb Vasc Biol (2009) 0.88
Usefulness of acute delirium as a predictor of adverse outcomes in patients >65 years of age with acute decompensated heart failure. Am J Cardiol (2011) 0.87
Intramammary infusion of a live culture for treatment of bovine mastitis: effect of live lactococci on the mammary immune response. J Dairy Res (2008) 0.87
Differential expression and comparative subcellular localization of estrogen receptor beta isoforms in virally transformed and normal cultured human lens epithelial cells. Exp Eye Res (2005) 0.87
The genetics of childhood obesity and interaction with dietary macronutrients. Genes Nutr (2013) 0.87
Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy. J Child Neurol (2011) 0.86
Administration of a live culture of Lactococcus lactis DPC 3147 into the bovine mammary gland stimulates the local host immune response, particularly IL-1beta and IL-8 gene expression. J Dairy Res (2009) 0.86
Left ventricular assist device support as a bridge to recovery in young children. Congenit Heart Dis (2011) 0.86
Effectiveness of osteopathy in the cranial field and myofascial release versus acupuncture as complementary treatment for children with spastic cerebral palsy: a pilot study. J Am Osteopath Assoc (2008) 0.86
The role of vesicular transport in ABCA1-dependent lipid efflux and its connection with NPC pathways. J Mol Med (Berl) (2005) 0.86
A multiple source methodology for the surveillance of fetal alcohol syndrome--The Fetal Alcohol Syndrome Surveillance Network (FASSNet). Teratology (2002) 0.85
Statins attenuate the development of atherosclerosis and endothelial dysfunction induced by exposure to urban particulate matter (PM10). Toxicol Appl Pharmacol (2013) 0.85
A role for hepatic scavenger receptor class B, type I in decreasing high density lipoprotein levels in mice that lack phosphatidylethanolamine N-methyltransferase. J Biol Chem (2008) 0.85
Primary cultured fibroblasts derived from patients with chronic wounds: a methodology to produce human cell lines and test putative growth factor therapy such as GMCSF. J Transl Med (2008) 0.85
Confirmatory factor analysis in osteopathic medicine: fascial and spinal motion restrictions as correlates of muscle spasticity in children with cerebral palsy. J Am Osteopath Assoc (2007) 0.85
Palliative care services in families of males with Duchenne muscular dystrophy. Muscle Nerve (2011) 0.84
The lantibiotic lacticin 3147 produced in a milk-based medium improves the efficacy of a bismuth-based teat seal in cattle deliberately infected with Staphylococcus aureus. J Dairy Res (2005) 0.84
ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein. Biochim Biophys Acta (2011) 0.83
Tolerability of statin-fibrate and statin-niacin combination therapy in dyslipidemic patients at high risk for cardiovascular events. Am J Cardiol (2002) 0.83
Correlates of care for young men with Duchenne and Becker muscular dystrophy. Muscle Nerve (2013) 0.82
Expression and secretion of human apolipoprotein A-I in the heart. FEBS Lett (2004) 0.82
Factors influencing the use of complementary and alternative medicine in children. J Altern Complement Med (2004) 0.80
Dry cow therapy with a non-antibiotic intramammary teat seal - a review. Ir Vet J (2004) 0.80
Vertically resolved measurements of nighttime radical reservoirs in Los Angeles and their contribution to the urban radical budget. Environ Sci Technol (2012) 0.80
Enhanced cholesterol efflux promotion in well-trained soccer players. Metabolism (2004) 0.80
Maintenance of improved lipid levels following attendance at a cardiovascular risk reduction clinic: a 10-year experience. Vasc Health Risk Manag (2008) 0.80
Outcome of patients with regadenoson-induced ST-segment depression but normal perfusion on single-photon emission computed tomography. Angiology (2012) 0.80
Lipid-bound apolipoproteins in tyrosyl radical-oxidized HDL stabilize ABCA1 like lipid-free apolipoprotein A-I. BMC Biochem (2012) 0.80
Physiological and coordinate downregulation of the NPC1 and NPC2 genes are associated with the sequestration of LDL-derived cholesterol within endocytic compartments. J Cell Biochem (2009) 0.79
Cholesterol and phospholipid efflux from cultured cells. Methods (2005) 0.79
So Much Cholesterol: the unrecognized importance of smooth muscle cells in atherosclerotic foam cell formation. Curr Opin Lipidol (2016) 0.79
Patterns of growth in ambulatory males with Duchenne muscular dystrophy. J Pediatr (2013) 0.79
Deactivation of the lipopolysaccharide antagonist eritoran (E5564) by high-density lipoprotein-associated apolipoproteins. Innate Immun (2011) 0.78
Characterization of a new mouse model for human apolipoprotein A-I/C-III/A-IV deficiency. J Lipid Res (2006) 0.78
Newborn screening: education, consent, and the residual blood spot. The position of the national society of genetic counselors. J Genet Couns (2013) 0.78
Osteoarthritis in the neonate: risk factors and outcome. Braz J Infect Dis (2010) 0.78
Exploring the feasibility of using electronic health records in the surveillance of fetal alcohol syndrome. Birth Defects Res A Clin Mol Teratol (2014) 0.78
Predictors of ascertainment of autism spectrum disorders across nine US communities. J Autism Dev Disord (2013) 0.77
Decreased activity of lecithin:cholesterol acyltransferase and hepatic lipase in chronic hypothyroid rats: implications for reverse cholesterol transport. Mol Cell Biochem (2003) 0.77
Sequential estrogen-progestin replacement therapy in healthy postmenopausal women: effects on cholesterol efflux capacity and key proteins regulating high-density lipoprotein levels. Metabolism (2002) 0.77
Images in cardiovascular medicine. Untreated 37-year-old homozygous familial hypercholesterolemic smoker. Circulation (2006) 0.77
Cholesterol homeostasis and high-density lipoprotein formation in arterial smooth muscle cells. Trends Cardiovasc Med (2010) 0.77
[Ocular involvement in congenital Chagas disease]. Arch Argent Pediatr (2013) 0.76
Group differences in IQ are best understood as environmental in origin. Am Psychol (2012) 0.76