Published in Hum Genet on December 04, 2001
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) 2.11
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics (2013) 1.58
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients. Neurol Sci (2011) 1.15
Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification. J Neurol (2011) 1.10
Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification. Avicenna J Med Biotechnol (2013) 0.76
Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome. Arch Med Sci (2010) 0.76
Fahr's disease in two siblings in a family: A case report. Exp Ther Med (2015) 0.75
Fahr's disease: bilateral symmetrical striopallidodentate calcification in two brothers with two distinct presentations. BMJ Case Rep (2013) 0.75
Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med (2012) 14.14
Life events, first depression onset and the serotonin transporter gene. Br J Psychiatry (2006) 3.32
Complications of Meckel's diverticula in adults. Can J Surg (2006) 3.16
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol (2007) 2.72
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Caring for Aged Dementia Care Resident Study (CADRES) of person-centred care, dementia-care mapping, and usual care in dementia: a cluster-randomised trial. Lancet Neurol (2009) 2.38
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol (2008) 2.34
GSK3B polymorphisms alter transcription and splicing in Parkinson's disease. Ann Neurol (2005) 2.14
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) 2.11
A randomized controlled trial of D-cycloserine enhancement of exposure therapy for social anxiety disorder. Biol Psychiatry (2008) 2.03
Ligand-gated ion channels: mechanisms underlying ion selectivity. Prog Biophys Mol Biol (2004) 1.96
Management of acute paraesophageal hernia. Surg Endosc (2008) 1.95
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav (2014) 1.90
Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network. Clin Investig (Lond) (2012) 1.90
Reduced hippocampal volumes and memory loss in patients with early- and late-onset depression. Br J Psychiatry (2005) 1.90
Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease. Ann Neurol (2008) 1.74
A randomized controlled trial of intranasal oxytocin as an adjunct to exposure therapy for social anxiety disorder. Psychoneuroendocrinology (2009) 1.71
Atypical depression: a reappraisal. Am J Psychiatry (2002) 1.71
Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol (2004) 1.61
Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease. Proc Natl Acad Sci U S A (2013) 1.58
The GPCOG: a new screening test for dementia designed for general practice. J Am Geriatr Soc (2002) 1.57
The brain-derived neurotrophic factor Val66Met polymorphism predicts response to exposure therapy in posttraumatic stress disorder. Biol Psychiatry (2013) 1.54
Prevalence and correlates of DSM-IV major depression in an Australian national survey. J Affect Disord (2003) 1.47
Is pouch of Douglas obliteration a marker of bowel endometriosis? J Minim Invasive Gynecol (2011) 1.47
Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease. Sci Transl Med (2014) 1.45
A randomized controlled trial of the effect of D-cycloserine on exposure therapy for spider fear. J Psychiatr Res (2006) 1.44
A randomized controlled trial of the effect of D-cycloserine on extinction and fear conditioning in humans. Behav Res Ther (2006) 1.44
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology (2012) 1.44
Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain (2006) 1.43
Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity. J Gen Physiol (2002) 1.30
Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings. Eur J Hum Genet (2010) 1.26
Preliminary evidence of the short allele of the serotonin transporter gene predicting poor response to cognitive behavior therapy in posttraumatic stress disorder. Biol Psychiatry (2010) 1.26
Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study. Soc Sci Med (2005) 1.25
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol (2010) 1.21
Quality of life: eating disorders. Aust N Z J Psychiatry (2006) 1.20
Attitudes towards childbearing, causal attributions for bipolar disorder and psychological distress: a study of families with multiple cases of bipolar disorder. Psychol Med (2007) 1.20
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. J Biol Chem (2002) 1.19
The contribution of proline 250 (P-2') to pore diameter and ion selectivity in the human glycine receptor channel. Neurosci Lett (2003) 1.18
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet (2002) 1.16
Impaired default network functional connectivity in autosomal dominant Alzheimer disease. Neurology (2013) 1.16
Serotonin transporter gene status predicts caudate nucleus but not amygdala or hippocampal volumes in older persons with major depression. J Affect Disord (2006) 1.13
Neuropsychological performance in patients with depression is associated with clinical, etiological and genetic risk factors. J Clin Exp Neuropsychol (2003) 1.13
A double-blind, sham-controlled trial of transcranial direct current stimulation for the treatment of depression. Int J Neuropsychopharmacol (2009) 1.12
Diagnostic guidelines for bipolar disorder: a summary of the International Society for Bipolar Disorders Diagnostic Guidelines Task Force Report. Bipolar Disord (2008) 1.11
Caudate nucleus volumes and genetic determinants of homocysteine metabolism in the prediction of psychomotor speed in older persons with depression. Am J Psychiatry (2002) 1.11
Distinct physiological mechanisms underlie altered glycinergic synaptic transmission in the murine mutants spastic, spasmodic, and oscillator. J Neurosci (2006) 1.09
'Negativity bias' in risk for depression and anxiety: brain-body fear circuitry correlates, 5-HTT-LPR and early life stress. Neuroimage (2009) 1.08
Role of charged residues in coupling ligand binding and channel activation in the extracellular domain of the glycine receptor. J Biol Chem (2003) 1.06
Attitudes to genetic testing in families with multiple cases of bipolar disorder. Genet Test (2008) 1.06
Uncovering the potential risk of serotonin toxicity in Australian veterans using pharmaceutical claims data. Br J Clin Pharmacol (2008) 1.05
Verrucous carcinoma of the esophagus eluding multiple sets of endoscopic biopsies and endoscopic ultrasound: a case report and review of the literature. Can J Gastroenterol (2004) 1.04
Issues concerning feedback about genetic testing and risk of depression. Br J Psychiatry (2009) 1.04
Gating mechanisms in Cys-loop receptors. Eur Biophys J (2009) 1.03
Mechanisms of channel gating of the ligand-gated ion channel superfamily inferred from protein structure. Exp Physiol (2004) 1.03
A high-risk study of bipolar disorder. Childhood clinical phenotypes as precursors of major mood disorders. Arch Gen Psychiatry (2011) 1.02
Kinetic determinants of agonist action at the recombinant human glycine receptor. J Physiol (2003) 1.02
Distinguishing early and late onset non-melancholic unipolar depression. J Affect Disord (2003) 1.01
COMT Val(108/158)Met polymorphism effects on emotional brain function and negativity bias. Neuroimage (2010) 1.00
Outcome of laparoscopic splenectomy with preoperative splenic artery embolization for massive splenomegaly. Surg Endosc (2010) 0.99
Single channel analysis of conductance and rectification in cation-selective, mutant glycine receptor channels. J Gen Physiol (2002) 0.99
Predictors of the accuracy of self-reported height and weight in adolescent female school students. Int J Eat Disord (2004) 0.98
The effect of simulation in improving students' performance in laparoscopic surgery: a meta-analysis. Surg Endosc (2012) 0.98
Early life stress combined with serotonin 3A receptor and brain-derived neurotrophic factor valine 66 to methionine genotypes impacts emotional brain and arousal correlates of risk for depression. Biol Psychiatry (2010) 0.98
A polymorphism of the MAOA gene is associated with emotional brain markers and personality traits on an antisocial index. Neuropsychopharmacology (2009) 0.97
Behavioral profile of a heterozygous mutant mouse model for EGF-like domain neuregulin 1. Behav Neurosci (2008) 0.96
Diagnosing dementia in primary care: the accuracy of informant reports. Alzheimer Dis Assoc Disord (2002) 0.96
Meta-analysis and brain imaging data support the involvement of VRK2 (rs2312147) in schizophrenia susceptibility. Schizophr Res (2012) 0.95
Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. Brain (2003) 0.95
Variable phenotype of Alzheimer's disease with spastic paraparesis. J Neurochem (2007) 0.94
A randomized controlled study of cognitive behavior therapy and behavioral family therapy for anorexia nervosa patients. Eat Disord (2004) 0.94
Pilot randomised clinical trial of Pascal TargETEd Retinal versus variable fluence PANretinal 20 ms laser in diabetic retinopathy: PETER PAN study. Br J Ophthalmol (2012) 0.94
Microarray gene expression profiling of mouse brain mRNA in a model of lithium treatment. Psychiatr Genet (2008) 0.94
Differences in regional brain atrophy in genetic forms of Alzheimer's disease. Neurobiol Aging (2006) 0.94
Association between BDNF Val66Met polymorphism and trait depression is mediated via resting EEG alpha band activity. Biol Psychol (2008) 0.93
A missense mutation in kynurenine aminotransferase-1 in spontaneously hypertensive rats. J Biol Chem (2002) 0.93
Use of antidepressants by general practitioners and psychiatrists in Australia. Aust N Z J Psychiatry (2003) 0.93
The Sydney Holocaust study: posttraumatic stress disorder and other psychosocial morbidity in an aged community sample. J Trauma Stress (2003) 0.93
The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study. Neurology (2013) 0.92
"Getting physical": the management of neuropsychiatric disorders using novel physical treatments. Neuropsychiatr Dis Treat (2006) 0.92
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS One (2013) 0.91
Predictive and diagnostic genetic testing in psychiatry. Clin Lab Med (2010) 0.91
Brain derived neurotrophic factor Val66Met polymorphism, the five factor model of personality and hippocampal volume: Implications for depressive illness. Hum Brain Mapp (2009) 0.90
Pick bodies in a family with presenilin-1 Alzheimer's disease. Ann Neurol (2005) 0.90
Exercise behaviours and feelings in eating disorder and non-eating disorder groups. Eur Eat Disord Rev (2007) 0.90
Staff outcomes from the caring for aged dementia care resident study (CADRES): a cluster randomised trial. Int J Nurs Stud (2011) 0.89
Age and gender in the phenomenology of depression. Am J Geriatr Psychiatry (2005) 0.89
Pore structure of the Cys-loop ligand-gated ion channels. Neurochem Res (2009) 0.88
Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report. PLoS One (2013) 0.88
Impact of the HTR3A gene with early life trauma on emotional brain networks and depressed mood. Depress Anxiety (2010) 0.88
Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques. Neurobiol Dis (2004) 0.87
The genetics of white matter lesions. CNS Neurosci Ther (2010) 0.87
Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26. PLoS One (2012) 0.87
Vulnerability to post-traumatic stress disorder and psychological morbidity in aged holocaust survivors. Int J Geriatr Psychiatry (2004) 0.87
No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis. Neuroreport (2007) 0.87
Altered gene expression in mice treated with the mood stabilizer sodium valproate. Int J Neuropsychopharmacol (2005) 0.87
The TWIN-E project in emotional wellbeing: study protocol and preliminary heritability results across four MRI and DTI measures. Twin Res Hum Genet (2012) 0.86
Vascular risk and low serum B12 predict white matter lesions in patients with major depression. J Affect Disord (2005) 0.86