Published in Proc Natl Acad Sci U S A on May 28, 1996
Attenuated variants of Lesch-Nyhan disease. Brain (2010) 2.80
Delineation of the motor disorder of Lesch-Nyhan disease. Brain (2006) 2.30
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study. Lancet Neurol (2013) 1.55
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis (2007) 1.48
Lesch-Nyhan disease: from mechanism to model and back again. Dis Model Mech (2009) 1.31
PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet (2010) 1.26
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain (2013) 1.17
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene? PLoS One (2011) 1.15
Consequences of impaired purine recycling in dopaminergic neurons. Neuroscience (2008) 1.14
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum Mol Genet (2009) 1.07
Commentary: Dopaminergic dysfunction in DYT1 dystonia. Exp Neurol (2008) 1.06
Basal ganglia dopamine loss due to defect in purine recycling. Neurobiol Dis (2007) 1.06
Non-suicidal self-injurious behavior, endogenous opioids and monoamine neurotransmitters. J Affect Disord (2009) 1.03
Multidisciplinary assessment and treatment of self-injurious behavior in autism spectrum disorder and intellectual disability: integration of psychological and biological theory and approach. J Autism Dev Disord (2015) 0.97
Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome. J Neurodev Disord (2013) 0.92
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. Proc Natl Acad Sci U S A (2012) 0.91
Recognition of psychostimulants, antidepressants, and other inhibitors of synaptic neurotransmitter uptake by the plasma membrane monoamine transporters. AAPS J (2005) 0.86
Apoptotic natural cell death in developing primate dopamine midbrain neurons occurs during a restricted period in the second trimester of gestation. Exp Neurol (2007) 0.86
Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients. J Inherit Metab Dis (2012) 0.85
Deep brain stimulation of the globus pallidus internus and Gilles de la Tourette syndrome: Toward multiple networks modulation. Surg Neurol Int (2012) 0.84
A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome. Neuroreport (2008) 0.84
Levodopa is not a useful treatment for Lesch-Nyhan disease. Mov Disord (2011) 0.84
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. Mol Syndromol (2016) 0.82
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J Inherit Metab Dis (2004) 0.81
Identification of a novel selective serotonin reuptake inhibitor by coupling monoamine transporter-based virtual screening and rational molecular hybridization. ACS Chem Neurosci (2011) 0.79
Nucleotide salvage deficiencies, DNA damage and neurodegeneration. Int J Mol Sci (2015) 0.79
Transcriptomic approach to Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids (2014) 0.79
Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. Ann Neurol (2014) 0.78
Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients. Biochem J (2004) 0.77
Neurocognitive dysfunction and pharmacological intervention using guanfacine in a rhesus macaque model of self-injurious behavior. Transl Psychiatry (2015) 0.77
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis. J Inherit Metab Dis (2015) 0.76
Network localization of hemichorea-hemiballismus. Neurology (2016) 0.76
Generation of Hprt-disrupted rat through mouse←rat ES chimeras. Sci Rep (2016) 0.76
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. Neurology (2014) 0.75
Research on genes: promises and limitations. J Psychiatry Neurosci (1999) 0.75
Parallel organization of functionally segregated circuits linking basal ganglia and cortex. Annu Rev Neurosci (1986) 18.17
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. Am J Med (1964) 7.97
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
Primate models of movement disorders of basal ganglia origin. Trends Neurosci (1990) 7.63
Graphical analysis of reversible radioligand binding from time-activity measurements applied to [N-11C-methyl]-(-)-cocaine PET studies in human subjects. J Cereb Blood Flow Metab (1990) 6.62
Positron emission tomographic imaging of the dopamine transporter with 11C-WIN 35,428 reveals marked declines in mild Parkinson's disease. Ann Neurol (1993) 3.12
Cloning and expression of a cocaine-sensitive rat dopamine transporter. Science (1991) 2.13
Cloning and expression of a cocaine-sensitive dopamine transporter complementary DNA. Science (1991) 1.93
Calculation of cerebral glucose phosphorylation from brain uptake of glucose analogs in vivo: a re-examination. Brain Res (1982) 1.62
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med (1981) 1.48
Single photon emission computed tomographic imaging demonstrates loss of striatal dopamine transporters in Parkinson disease. Proc Natl Acad Sci U S A (1993) 1.27
Cloning and functional characterization of a cocaine-sensitive dopamine transporter. FEBS Lett (1991) 1.23
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci (1994) 1.22
Cloning of the cocaine-sensitive bovine dopamine transporter. Proc Natl Acad Sci U S A (1991) 1.15
Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol (1993) 1.13
Behavioral differences between neonatal and adult 6-hydroxydopamine-treated rats to dopamine agonists: relevance to neurological symptoms in clinical syndromes with reduced brain dopamine. J Pharmacol Exp Ther (1984) 1.07
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol (1988) 0.98
Cocaine receptors labeled by [3H]2 beta-carbomethoxy-3 beta-(4-fluorophenyl)tropane. Mol Pharmacol (1989) 0.96
In vivo imaging of baboon and human dopamine transporters by positron emission tomography using [11C]WIN 35,428. Synapse (1993) 0.95
Dopamine fiber detection by [11C]-CFT and PET in a primate model of parkinsonism. Neuroreport (1992) 0.95
Rett syndrome: biogenic amines and metabolites in postmortem brain. Pediatr Neurol (1990) 0.92
In vivo imaging of dopamine reuptake sites in the primate brain using single photon emission computed tomography (SPECT) and iodine-123 labeled RTI-55. Synapse (1992) 0.88
Substituted 3-phenyltropane analogs of cocaine: synthesis, inhibition of binding at cocaine recognition sites, and positron emission tomography imaging. J Med Chem (1993) 0.88
The contribution of basal ganglia to limb control. Prog Brain Res (1986) 0.87
Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities. Neurology (1985) 0.87
A dopamine deficiency model of Lesch-Nyhan disease--the neonatal-6-OHDA-lesioned rat. Brain Res Bull (1990) 0.87
Reduction in dopamine transporter mRNA after cessation of repeated cocaine administration. Brain Res Mol Brain Res (1994) 0.85
Neurochemical alterations in Rett syndrome. Brain Res Dev Brain Res (1993) 0.84
Cocaine receptors: in vivo labeling with 3H-(-)cocaine, 3H-WIN 35,065-2, and 3H-WIN 35,428. Synapse (1989) 0.84
Withdrawal of repeated intravenous infusions of cocaine persistently reduces binding to dopamine transporters in the nucleus accumbens of Lewis rats. J Pharmacol Exp Ther (1994) 0.82
Dopamine transporter: biochemistry, pharmacology and imaging. Eur Neurol (1990) 0.81
Distribution of cocaine recognition sites in monkey brain: II. Ex vivo autoradiography with [3H]CFT and [125I]RTI-55. Synapse (1992) 0.80
11C-WIN 35,428 for detecting dopamine depletion in mild Parkinson's disease. Ann Neurol (1994) 0.79
3D simulations of radiotracer uptake in deep nuclei of human brain. Comput Med Imaging Graph (1994) 0.78
A probabilistic atlas and reference system for the human brain: International Consortium for Brain Mapping (ICBM). Philos Trans R Soc Lond B Biol Sci (2001) 10.38
A probabilistic atlas of the human brain: theory and rationale for its development. The International Consortium for Brain Mapping (ICBM). Neuroimage (1995) 8.46
Intellectual ability and cortical development in children and adolescents. Nature (2006) 8.41
Incorporating prior knowledge into image registration. Neuroimage (1997) 8.24
Estimation of contribution of changes in classic risk factors to trends in coronary-event rates across the WHO MONICA Project populations. Lancet (2000) 6.94
Cocaine receptors on dopamine transporters are related to self-administration of cocaine. Science (1987) 6.58
Positron emission tomographic evidence of toxic effect of MDMA ("Ecstasy") on brain serotonin neurons in human beings. Lancet (1998) 5.85
Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature (1992) 5.56
Attention-deficit/hyperactivity disorder is characterized by a delay in cortical maturation. Proc Natl Acad Sci U S A (2007) 5.56
One-year age changes in MRI brain volumes in older adults. Cereb Cortex (2000) 5.16
Treatment of Wilms' tumor. Results of the Third National Wilms' Tumor Study. Cancer (1989) 4.34
Relationship between vancomycin MIC and failure among patients with methicillin-resistant Staphylococcus aureus bacteremia treated with vancomycin. Antimicrob Agents Chemother (2008) 4.21
Fecal leukocytes in diarrheal illness. Ann Intern Med (1972) 3.89
Anatomic basis of amygdaloid and hippocampal volume measurement by magnetic resonance imaging. Neurology (1992) 3.87
The Emerging Risk Factors Collaboration: analysis of individual data on lipid, inflammatory and other markers in over 1.1 million participants in 104 prospective studies of cardiovascular diseases. Eur J Epidemiol (2007) 3.81
Neurotransmitter transporters: recent progress. Annu Rev Neurosci (1993) 3.80
Comprehensive approach for correction of motion and distortion in diffusion-weighted MRI. Magn Reson Med (2004) 3.66
Are the Framingham and PROCAM coronary heart disease risk functions applicable to different European populations? The PRIME Study. Eur Heart J (2003) 3.55
An image-processing system for qualitative and quantitative volumetric analysis of brain images. J Comput Assist Tomogr (1998) 3.49
Lateralization of phonetic and pitch discrimination in speech processing. Science (1992) 3.43
Alternative strategies for stroke care: a prospective randomised controlled trial. Lancet (2000) 3.27
Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation (2001) 3.21
Patients with fatigue in general practice: a prospective study. BMJ (1993) 3.14
Positron emission tomographic imaging of the dopamine transporter with 11C-WIN 35,428 reveals marked declines in mild Parkinson's disease. Ann Neurol (1993) 3.12
Fourteen-year final report of the randomized PDRG-UK trial comparing three initial treatments in PD. Neurology (2008) 3.10
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet (2001) 3.05
Differential and persistent expression patterns of CNS gene transfer by an adeno-associated virus (AAV) vector. Brain Res (1996) 3.03
Sequence diversity in 36 candidate genes for cardiovascular disorders. Am J Hum Genet (1999) 3.02
Retrospective evaluation of intersubject brain registration. IEEE Trans Med Imaging (2003) 3.02
Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet (1994) 2.99
Longitudinal cognitive decline is associated with fibrillar amyloid-beta measured by [11C]PiB. Neurology (2010) 2.92
Admission to child health surveillance lists: the views of FHSA general managers and general practitioners. BMJ (1991) 2.82
A computerized approach for morphological analysis of the corpus callosum. J Comput Assist Tomogr (1996) 2.82
Effects of subanaesthetic and anaesthetic doses of sevoflurane on regional cerebral blood flow in healthy volunteers. A positron emission tomographic study. Acta Anaesthesiol Scand (2004) 2.74
Measurement of radiotracer concentration in brain gray matter using positron emission tomography: MRI-based correction for partial volume effects. J Cereb Blood Flow Metab (1992) 2.70
A four-dimensional probabilistic atlas of the human brain. J Am Med Inform Assoc (2001) 2.64
Three-dimensional MRI atlas of the human cerebellum in proportional stereotaxic space. Neuroimage (1999) 2.62
Magnetic resonance abnormalities and cardiovascular disease in older adults. The Cardiovascular Health Study. Stroke (1994) 2.57
Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation (1999) 2.56
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology (2004) 2.48
Leptin activates hypothalamic CART neurons projecting to the spinal cord. Neuron (1998) 2.46
A new method for receptor autoradiography: [3H]opioid receptors in rat brain. Brain Res (1979) 2.44
Polymorphisms of the transforming growth factor-beta 1 gene in relation to myocardial infarction and blood pressure. The Etude Cas-Témoin de l'Infarctus du Myocarde (ECTIM) Study. Hypertension (1996) 2.44
Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol (2001) 2.43
The treatment of Wilms' tumor: results of the Second National Wilms' Tumor Study. Cancer (1981) 2.43
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol (1995) 2.42
Reduced striatal dopamine transporter density in abstinent methamphetamine and methcathinone users: evidence from positron emission tomography studies with [11C]WIN-35,428. J Neurosci (1998) 2.40
Unilateral transplantation of human fetal mesencephalic tissue into the caudate nucleus of patients with Parkinson's disease. N Engl J Med (1992) 2.39
Consultation use of a computer by general practitioners. J R Coll Gen Pract (1984) 2.36
Specific involvement of human parietal systems and the amygdala in the perception of biological motion. J Neurosci (1996) 2.33
Underperforming doctors in general practice: a survey of referrals to UK Deaneries. Br J Gen Pract (2001) 2.33
Column-switching HPLC for the analysis of plasma in PET imaging studies. Nucl Med Biol (2000) 2.29
Functional imaging of an illusion of pain. Nature (1996) 2.26
Hodgkin's disease and Epstein-Barr virus. Altered antibody pattern before diagnosis. N Engl J Med (1989) 2.25
Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology (1999) 2.24
Phosphorus magnetic resonance spectroscopy of patients with mitochondrial cytopathies demonstrates decreased levels of brain phosphocreatine. Ann Neurol (1990) 2.24
Stopping drug treatment of hypertension: experience in 18 British general practices. Br J Gen Pract (1999) 2.22
Sulcal, ventricular, and white matter changes at MR imaging in the aging brain: data from the cardiovascular health study. Radiology (1997) 2.13
Lysosomal glycogen storage disease with normal acid maltase. Neurology (1981) 2.13
Distributed processing of pain and vibration by the human brain. J Neurosci (1994) 2.08
Cutaneous malignant melanoma in Scotland: incidence, survival, and mortality, 1979-94. The Scottish Melanoma Group. BMJ (1997) 2.08
Early childhood prolonged febrile convulsions, atrophy and sclerosis of mesial structures, and temporal lobe epilepsy: an MRI volumetric study. Neurology (1993) 2.07
Opioid peptide enkephalin: immunohistochemical mapping in rat central nervous system. Proc Natl Acad Sci U S A (1977) 2.07
Deletion polymorphism in angiotensin-converting enzyme gene associated with parental history of myocardial infarction. Lancet (1993) 2.06
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol (1999) 2.06
Simulated surgery in the summative assessment of general practice training: results of a trial in the Trent and Yorkshire regions. Br J Gen Pract (1998) 2.05
MRI volumetric measurement of amygdala and hippocampus in temporal lobe epilepsy. Neurology (1993) 2.04
Regional distribution of opiate receptor binding in monkey and human brain. Nature (1973) 2.02
Association between blood pressure level and the risk of myocardial infarction, stroke, and total mortality: the cardiovascular health study. Arch Intern Med (2001) 2.01
Opiate receptor: autoradiographic localization in rat brain. Proc Natl Acad Sci U S A (1976) 2.01
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res (2000) 2.01
Positron emission tomography reveals elevated D2 dopamine receptors in drug-naive schizophrenics. Science (1986) 2.00
Selective release of newly synthesized norepinephrine from the cat spleen during sympathetic nerve stimulation. J Pharmacol Exp Ther (1968) 1.99
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet (1998) 1.98
Neurologic sequelae of domoic acid intoxication due to the ingestion of contaminated mussels. N Engl J Med (1990) 1.98
The successful development of decentralised health service management: an evaluation of area health services in New South Wales. Aust Health Rev (1992) 1.97
Impact of NHS direct on demand for immediate care. Target communities show poor awareness of NHS direct. BMJ (2000) 1.96
Effect of computer use in the consultation on the delivery of care. Br Med J (Clin Res Ed) (1985) 1.90
Sex differences in brain aging: a quantitative magnetic resonance imaging study. Arch Neurol (1998) 1.86
Metabolism of normetanephrine-H3 in rat brain--identification of conjugated 3-methoxy-4-hydrophenylglycol as the major metabolite. Biochem Pharmacol (1968) 1.86
Apolipoprotein E, epsilon 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region. Hum Mol Genet (1994) 1.85
Differentiation of delta and mu opiate receptor localizations by light microscopic autoradiography. Proc Natl Acad Sci U S A (1980) 1.84
DNA- dependent RNA-directed protein synthesis in vitro. I. Extent of genome transcription. Proc Natl Acad Sci U S A (1969) 1.82
Autoradiographic localization of opiate receptors in rat brain. I. Spinal cord and lower medulla. Brain Res (1977) 1.80
Quantitative receptor autoradiography using [3H]ultrofilm: application to multiple benzodiazepine receptors. J Neurosci Methods (1982) 1.79
Absolute quantitation of diffusion constants in human stroke. Stroke (1997) 1.79
Progressive cortical change during adolescence in childhood-onset schizophrenia. A longitudinal magnetic resonance imaging study. Arch Gen Psychiatry (1999) 1.78
Corticotropin-releasing factor receptors are widely distributed within the rat central nervous system: an autoradiographic study. J Neurosci (1985) 1.77
Effects of age on dopamine and serotonin receptors measured by positron tomography in the living human brain. Science (1984) 1.75