Published in J Neurochem on November 06, 2007
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. J Biol Chem (2010) 1.28
Correlating familial Alzheimer's disease gene mutations with clinical phenotype. Biomark Med (2010) 1.21
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. Mol Neurodegener (2010) 1.15
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. J Alzheimers Dis (2010) 1.14
Conceptual evolution in Alzheimer's disease: implications for understanding the clinical phenotype of progressive neurodegenerative disease. J Alzheimers Dis (2010) 1.02
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis. Cell Calcium (2011) 0.99
Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor. Mol Cell Proteomics (2010) 0.92
Clinical genetics of Alzheimer's disease. Biomed Res Int (2014) 0.82
Biological function of Presenilin and its role in AD pathogenesis. Transl Neurodegener (2013) 0.81
The role of the innate immune system in Alzheimer's disease and frontotemporal lobar degeneration: an eye on microglia. Clin Dev Immunol (2013) 0.77
Clinical, biological, and imaging features of monogenic Alzheimer's Disease. Biomed Res Int (2013) 0.77
Widespread white matter and conduction defects in PSEN1-related spastic paraparesis. Neurobiol Aging (2016) 0.75
Forgetful and robotic: tap on a gene! Neurol Sci (2015) 0.75
Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med (2012) 14.14
The Sydney multicenter study of Parkinson's disease: the inevitability of dementia at 20 years. Mov Disord (2008) 5.72
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Clinicopathological correlates in frontotemporal dementia. Ann Neurol (2004) 4.38
Life events, first depression onset and the serotonin transporter gene. Br J Psychiatry (2006) 3.32
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
The pathological basis of semantic dementia. Brain (2005) 2.96
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. Brain (2014) 2.74
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
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol (2009) 2.60
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
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
Neuropathologic correlates of white matter hyperintensities. Neurology (2008) 2.29
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
Disease duration and the integrity of the nigrostriatal system in Parkinson's disease. Brain (2013) 2.09
Ligand-gated ion channels: mechanisms underlying ion selectivity. Prog Biophys Mol Biol (2004) 1.96
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
Multiple biological pathways link cognitive lifestyle to protection from dementia. Biol Psychiatry (2011) 1.79
Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease. Ann Neurol (2008) 1.74
In vivo identification of human cortical areas using high-resolution MRI: an approach to cerebral structure-function correlation. Proc Natl Acad Sci U S A (2003) 1.72
Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Mov Disord (2014) 1.63
Cognitive, extrapyramidal, and magnetic resonance imaging predictors of functional impairment in nondemented older community dwellers: the Sydney Older Person Study. J Am Geriatr Soc (2006) 1.63
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
A possible role for humoral immunity in the pathogenesis of Parkinson's disease. Brain (2005) 1.57
Small-vessel disease in patients with Parkinson's disease: a clinicopathological study. Mov Disord (2012) 1.56
The brain-derived neurotrophic factor Val66Met polymorphism predicts response to exposure therapy in posttraumatic stress disorder. Biol Psychiatry (2013) 1.54
Progression in frontotemporal dementia: identifying a benign behavioral variant by magnetic resonance imaging. Arch Neurol (2006) 1.47
High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Arch Neurol (2009) 1.45
Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease. Sci Transl Med (2014) 1.45
Argyrophilic staining of nucleolar organizer region count and morphometry in benign and malignant melanocytic lesions. Am J Dermatopathol (2003) 1.44
Variability in neuronal expression of dopamine receptors and transporters in the substantia nigra. Mov Disord (2013) 1.44
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology (2012) 1.44
P25alpha immunoreactive but alpha-synuclein immunonegative neuronal inclusions in multiple system atrophy. Acta Neuropathol (2006) 1.43
Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain (2006) 1.43
Cortical limb myoclonus in pathologically proven progressive supranuclear palsy. Mov Disord (2013) 1.39
Clinical significance of lobar atrophy in frontotemporal dementia: application of an MRI visual rating scale. Dement Geriatr Cogn Disord (2007) 1.39
The Sydney Memory and Ageing Study (MAS): methodology and baseline medical and neuropsychiatric characteristics of an elderly epidemiological non-demented cohort of Australians aged 70-90 years. Int Psychogeriatr (2010) 1.32
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
Clinical correlates of selective pathology in the amygdala of patients with Parkinson's disease. Brain (2002) 1.27
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
Monocyte chemoattractant protein-1 plays a dominant role in the chronic inflammation observed in Alzheimer's disease. Brain Pathol (2008) 1.26
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
Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study. Soc Sci Med (2005) 1.25
Sodium selenate mitigates tau pathology, neurodegeneration, and functional deficits in Alzheimer's disease models. Proc Natl Acad Sci U S A (2010) 1.24
Eating and hypothalamus changes in behavioral-variant frontotemporal dementia. Ann Neurol (2010) 1.24
Variations in the neuropathology of familial Alzheimer's disease. Acta Neuropathol (2009) 1.22
The progression of pathology in Parkinson's disease. Ann N Y Acad Sci (2010) 1.21
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol (2010) 1.21
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
Regional and cellular pathology in frontotemporal dementia: relationship to stage of disease in cases with and without Pick bodies. Acta Neuropathol (2004) 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
α-Synucleinopathy phenotypes. Parkinsonism Relat Disord (2014) 1.16
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
Neuron loss from the hippocampus of Alzheimer's disease exceeds extracellular neurofibrillary tangle formation. Acta Neuropathol (2001) 1.12
Subcortical vascular disease and functional decline: a 6-year predictor study. J Am Geriatr Soc (2002) 1.11
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet (2001) 1.11
Identifying the pattern of olfactory deficits in Parkinson disease using the brief smell identification test. Arch Neurol (2003) 1.10
Selective loss of pyramidal neurons in the pre-supplementary motor cortex in Parkinson's disease. Mov Disord (2002) 1.10
Distinct physiological mechanisms underlie altered glycinergic synaptic transmission in the murine mutants spastic, spasmodic, and oscillator. J Neurosci (2006) 1.09
Postmortem analysis of bilateral subthalamic electrode implants in Parkinson's disease. Mov Disord (2002) 1.09
Vascular risk factors, cognition and dementia incidence over 6 years in the Sydney Older Persons Study. Neuroepidemiology (2003) 1.09