Published in Nature on July 16, 2006
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (2007) 8.10
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci (2011) 6.01
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet (2010) 5.75
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol (2007) 5.02
The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice. Science (2011) 4.76
Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol (2006) 4.32
Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol (2006) 4.24
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet (2008) 3.66
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A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity. Proc Natl Acad Sci U S A (2008) 3.46
Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. Neuron (2010) 3.44
The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci (2013) 3.16
Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol (2008) 3.13
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HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol (2006) 3.00
Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol (2008) 2.91
Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO Rep (2007) 2.85
Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration. Nat Rev Neurosci (2011) 2.84
TAR DNA-binding protein 43 in neurodegenerative disease. Nat Rev Neurol (2010) 2.81
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. Acta Neuropathol (2009) 2.76
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet (2008) 2.48
Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol (2012) 2.48
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain (2009) 2.45
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The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases. EMBO J (2008) 2.43
Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation (2007) 2.43
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
Understanding microRNAs in neurodegeneration. Nat Rev Neurosci (2009) 2.22
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol (2010) 2.19
Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol (2011) 2.17
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain (2008) 2.13
Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging (2007) 2.00
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology (2010) 1.93
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol (2014) 1.90
Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol (2014) 1.88
Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia. J Biol Chem (2011) 1.88
The heritability and genetics of frontotemporal lobar degeneration. Neurology (2009) 1.86
Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging. Neuropathol Appl Neurobiol (2015) 1.86
Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases. J Neurol (2009) 1.85
TDP-43: a novel neurodegenerative proteinopathy. Curr Opin Neurobiol (2007) 1.73
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration. Hum Mol Genet (2008) 1.68
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med (2012) 1.66
Selective functional, regional, and neuronal vulnerability in frontotemporal dementia. Curr Opin Neurol (2008) 1.66
Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching. Mol Brain (2009) 1.65
Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia. Proc Natl Acad Sci U S A (2008) 1.64
Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models. Nat Med (2014) 1.63
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol (2006) 1.60
TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways. J Neurosci (2012) 1.60
Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities. Protein Sci (2008) 1.60
Gene expression study on peripheral blood identifies progranulin mutations. Ann Neurol (2008) 1.59
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol (2009) 1.56
Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS. Neurology (2011) 1.55
miR-107 regulates granulin/progranulin with implications for traumatic brain injury and neurodegenerative disease. Am J Pathol (2010) 1.54
Rapamycin rescues TDP-43 mislocalization and the associated low molecular mass neurofilament instability. J Biol Chem (2009) 1.53
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies. Neuropathology (2010) 1.53
Granulin epithelin precursor: a bone morphogenic protein 2-inducible growth factor that activates Erk1/2 signaling and JunB transcription factor in chondrogenesis. FASEB J (2010) 1.53
Granulin-epithelin precursor binds directly to ADAMTS-7 and ADAMTS-12 and inhibits their degradation of cartilage oligomeric matrix protein. Arthritis Rheum (2010) 1.52
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol (2013) 1.51
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells. J Biol Chem (2012) 1.50
Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. Neurology (2013) 1.50
ALS and FTLD: two faces of TDP-43 proteinopathy. Eur J Neurol (2008) 1.49
Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN. Neurology (2009) 1.48
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. Brain (2011) 1.46
C9orf72 is required for proper macrophage and microglial function in mice. Science (2016) 1.46
ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor. Mol Cell Biol (2009) 1.46
Progranulin is expressed within motor neurons and promotes neuronal cell survival. BMC Neurosci (2009) 1.46
TDP-43 in aging and Alzheimer's disease - a review. Int J Clin Exp Pathol (2011) 1.46
Insights into the role of progranulin in immunity, infection, and inflammation. J Leukoc Biol (2012) 1.45
Inhibition of autophagy induction delays neuronal cell loss caused by dysfunctional ESCRT-III in frontotemporal dementia. J Neurosci (2009) 1.45
Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia. FASEB J (2010) 1.44
TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander. Mamm Genome (2008) 1.44
The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function. Hum Mol Genet (2012) 1.43
Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem (2012) 1.43
Serum progranulin concentrations may be associated with macrophage infiltration into omental adipose tissue. Diabetes (2008) 1.42
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet (2010) 1.42
The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol (2012) 1.42
RNA-binding proteins with prion-like domains in ALS and FTLD-U. Prion (2011) 1.40
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. Arch Neurol (2007) 1.39
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. Acta Neuropathol (2009) 1.37
MicroRNAs in neurodegenerative diseases and their therapeutic potential. Pharmacol Ther (2011) 1.37
Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration. J Biol Chem (2012) 1.37
Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43. J Biol Chem (2014) 1.37
Analysis of alternative splicing associated with aging and neurodegeneration in the human brain. Genome Res (2011) 1.35
Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol (2014) 1.35
Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury. J Clin Invest (2012) 1.34
Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling. Neuron (2011) 1.34
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun (2013) 1.32
Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function. Nucleic Acids Res (2011) 1.31
Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. Neurodegener Dis (2010) 1.31
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Hum Mutat (2008) 1.30
Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord (2008) 1.29
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiatry (2007) 1.28
A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells. Proc Natl Acad Sci U S A (2011) 1.28
Word-finding difficulty: a clinical analysis of the progressive aphasias. Brain (2007) 1.27
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell (2013) 1.26
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
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Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science (2013) 6.34
Progressive multifocal leukoencephalopathy after natalizumab therapy for Crohn's disease. N Engl J Med (2005) 6.33
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91
TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol (2008) 5.58
Diagnosis-independent Alzheimer disease biomarker signature in cognitively normal elderly people. Arch Neurol (2010) 5.53
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
On the use of scaling and clustering in the study of semantic deficits. Neuropsychology (2003) 5.38
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01
KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer (2006) 4.92
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol (2009) 4.73
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol (2008) 4.73
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Rivastigmine for dementia associated with Parkinson's disease. N Engl J Med (2004) 4.56
Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med (2009) 4.45
A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain (2009) 4.40
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet (2003) 4.19
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol (2010) 3.92
Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. Gastroenterology (2005) 3.90
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet (2008) 3.66
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry (2010) 3.66
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet (2006) 3.54
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A (2010) 3.39
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
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
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain (2012) 3.08
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet (2004) 2.86
Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann Neurol (2009) 2.83
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol (2009) 2.68
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet (2011) 2.63
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. J Neurosci (2010) 2.60
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain (2006) 2.52
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet (2008) 2.45
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain (2009) 2.45
Strengthening the reporting of genetic association studies (STREGA): an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement. J Clin Epidemiol (2009) 2.45
gamma-Secretase heterogeneity in the Aph1 subunit: relevance for Alzheimer's disease. Science (2009) 2.43
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain (2012) 2.43
STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med (2009) 2.39
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30