Published in Neurology on August 08, 2012
The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci (2013) 3.16
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet (2014) 1.55
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol (2014) 1.13
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet (2013) 0.96
Altered body schema processing in frontotemporal dementia with C9ORF72 mutations. J Neurol Neurosurg Psychiatry (2014) 0.95
Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Ann N Y Acad Sci (2014) 0.93
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS One (2013) 0.91
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.89
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry (2015) 0.88
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. Front Aging Neurosci (2015) 0.87
Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum. PLoS One (2014) 0.85
Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease. Mov Disord (2014) 0.80
FTD/ALS families are no longer orphaned: the C9ORF72 story. Neurology (2012) 0.79
Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics. Am J Neurodegener Dis (2013) 0.79
Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions. Neuroimage Clin (2013) 0.78
Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43. Acta Neuropathol Commun (2013) 0.78
RNA-binding protein misregulation in microsatellite expansion disorders. Adv Exp Med Biol (2014) 0.77
Dementia and neuroimaging. J Neurol (2012) 0.77
Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions. J Geriatr Psychiatry Neurol (2014) 0.77
Heritability in frontotemporal dementia: more missing pieces? J Neurol (2014) 0.76
Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations. Int J Mol Sci (2015) 0.76
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. Acta Neuropathol (2013) 0.75
Neurodegenerative disorder masquerading as psychosis in a forensic psychiatry setting. BMJ Case Rep (2014) 0.75
The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion. Neuroimage Clin (2016) 0.75
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Classification of primary progressive aphasia and its variants. Neurology (2011) 11.82
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90
A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol (2011) 4.15
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (2011) 3.34
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry (2010) 2.44
Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol (2011) 2.17
Staging disease severity in pathologically confirmed cases of frontotemporal dementia. Neurology (2003) 1.98
Subtypes of progressive aphasia: application of the International Consensus Criteria and validation using β-amyloid imaging. Brain (2011) 1.92
Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum. J Neuropathol Exp Neurol (2005) 1.87
The heritability and genetics of frontotemporal lobar degeneration. Neurology (2009) 1.86
The utility of the Cambridge Behavioural Inventory in neurodegenerative disease. J Neurol Neurosurg Psychiatry (2007) 1.37
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
Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases. Brain (2009) 1.31
Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis. Arch Neurol (2010) 1.20
How preserved is episodic memory in behavioral variant frontotemporal dementia? Neurology (2010) 1.15
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A (2009) 1.03
Neural correlates of episodic memory in behavioral variant frontotemporal dementia. J Alzheimers Dis (2011) 1.01
The case of a 48 year-old woman with bizarre and complex delusions. Nat Rev Neurol (2010) 0.89
Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med (2012) 14.14
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90
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
The Addenbrooke's Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening. Int J Geriatr Psychiatry (2006) 4.73
Clinicopathological correlates in frontotemporal dementia. Ann Neurol (2004) 4.38
Clinical and pathological characterization of progressive aphasia. Ann Neurol (2006) 4.37
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet (2005) 4.21
Structure and deterioration of semantic memory: a neuropsychological and computational investigation. Psychol Rev (2004) 3.32
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
Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes (2006) 2.87
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
Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): current limitations and future directions. Alzheimer Dis Assoc Disord (2007) 2.43
The syndrome of transient epileptic amnesia. Ann Neurol (2007) 2.37
The effects of very early Alzheimer's disease on the characteristics of writing by a renowned author. Brain (2004) 2.34
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
Limbic hypometabolism in Alzheimer's disease and mild cognitive impairment. Ann Neurol (2003) 2.26
Progressive non-fluent aphasia is associated with hypometabolism centred on the left anterior insula. Brain (2003) 2.25
Specialization in the medial temporal lobe for processing of objects and scenes. Hippocampus (2005) 2.17
Theory of mind in patients with frontal variant frontotemporal dementia and Alzheimer's disease: theoretical and practical implications. Brain (2002) 2.17
Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol (2011) 2.17
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
Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders. J Clin Neurosci (2009) 1.99
Advances in the early detection of Alzheimer's disease. Nat Med (2004) 1.97
Ligand-gated ion channels: mechanisms underlying ion selectivity. Prog Biophys Mol Biol (2004) 1.96
Subtypes of progressive aphasia: application of the International Consensus Criteria and validation using β-amyloid imaging. Brain (2011) 1.92
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
What the left and right anterior fusiform gyri tell us about semantic memory. Brain (2010) 1.87
Perceptual deficits in amnesia: challenging the medial temporal lobe 'mnemonic' view. Neuropsychologia (2005) 1.83
Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management. Lancet Neurol (2010) 1.79
Language function and dysfunction in corticobasal degeneration. Neurology (2003) 1.78
Left/right asymmetry of atrophy in semantic dementia: behavioral-cognitive implications. Neurology (2003) 1.76
Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease. Ann Neurol (2008) 1.74
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
Diagnostic criteria for corticobasal syndrome: a comparative study. J Neurol Neurosurg Psychiatry (2011) 1.61
Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol (2004) 1.61
Declarative memory impairments in Alzheimer's disease and semantic dementia. Neuroimage (2005) 1.59
Neural correlates of semantic and behavioural deficits in frontotemporal dementia. Neuroimage (2004) 1.58
Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease. Proc Natl Acad Sci U S A (2013) 1.58
Naming of objects, faces and buildings in mild cognitive impairment. Cortex (2007) 1.58
Social reasoning, emotion and empathy in frontotemporal dementia. Neuropsychologia (2005) 1.57
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
Validation of the Addenbrooke's Cognitive Examination III in frontotemporal dementia and Alzheimer's disease. Dement Geriatr Cogn Disord (2013) 1.47
Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease. Sci Transl Med (2014) 1.45
Variability in neuronal expression of dopamine receptors and transporters in the substantia nigra. Mov Disord (2013) 1.44
Detecting dementia: novel neuropsychological markers of preclinical Alzheimer's disease. Dement Geriatr Cogn Disord (2003) 1.43
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
Towards evidence-based dementia screening in Australia. Med J Aust (2011) 1.40
Convergent grey and white matter evidence of orbitofrontal cortex changes related to disinhibition in behavioural variant frontotemporal dementia. Brain (2011) 1.39
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
Differentiating the roles of the hippocampus and perirhinal cortex in processes beyond long-term declarative memory: a double dissociation in dementia. J Neurosci (2006) 1.38
The human perirhinal cortex and semantic memory. Eur J Neurosci (2004) 1.38
Motor neuron dysfunction in frontotemporal dementia. Brain (2011) 1.31
The relationship between affective decision-making and theory of mind in the frontal variant of fronto-temporal dementia. Neuropsychologia (2006) 1.30
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
Is the pathology of corticobasal syndrome predictable in life? Mov Disord (2009) 1.29
Focal posterior cingulate atrophy in incipient Alzheimer's disease. Neurobiol Aging (2008) 1.28
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
Adaptation of the ACE for a Malayalam speaking population in southern India. Int J Geriatr Psychiatry (2004) 1.26
Semantic memory in Alzheimer's disease and the frontotemporal dementias: a longitudinal study of 236 patients. Neuropsychology (2006) 1.25
Face and emotion processing in frontal variant frontotemporal dementia. Neuropsychologia (2002) 1.25
Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study. Soc Sci Med (2005) 1.25
Eating and hypothalamus changes in behavioral-variant frontotemporal dementia. Ann Neurol (2010) 1.24
"Presemantic" cognition in semantic dementia: six deficits in search of an explanation. J Cogn Neurosci (2006) 1.24
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol (2010) 1.21