Property Summary

NCBI Gene PubMed Count 257
PubMed Score 523.33
PubTator Score 521.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (14)

Disease log2 FC p
gastric cancer -1.400 4.2e-03
hepatocellular carcinoma -1.400 1.6e-04
oligodendroglioma -1.200 5.0e-02
atypical teratoid / rhabdoid tumor -1.100 2.4e-03
adrenocortical carcinoma -1.545 1.5e-03
tuberculosis and treatment for 6 months 1.300 2.5e-03
intraductal papillary-mucinous adenoma (... -1.100 1.2e-02
intraductal papillary-mucinous carcinoma... -1.300 4.9e-03
posterior fossa group B ependymoma 1.300 8.5e-05
Alzheimer's disease -1.400 2.9e-02
Pick disease -1.300 1.2e-02
Breast cancer -1.400 1.2e-17
ovarian cancer -1.300 2.5e-05
chronic rhinosinusitis -1.469 3.1e-02

 GO Function (1)

 GO Process (2)

Protein-protein Interaction (2)

Gene RIF (236)

PMID Text
27079381 C9orf72 expression levels are reduced in FTD brains.
26989253 C9orf72 expression was highest in myeloid cells, and the loss of C9orf72 led to lysosomal accumulation and altered immune responses in macrophages and microglia, with age-related neuroinflammation similar to C9orf72 amyotrophic lateral sclerosis (ALS) but not sporadic ALS human patient tissue.
26916632 This study suggested that Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA is the the pathogenesis of ALS/FTD.
26862832 Despite the high frequency of psychiatric symptoms in behavioral variant frontotemporal dementia patients and the extremely high prevalence of the C9ORF72 expansion in Finland, pathogenic expansion (>40 repeats) was not detected in individuals with psychosis.
26810537 In our Chinese cohort, no pathological repeat expansion of C9ORF72 was detected in either spinocerebellar ataxia patients or controls.
26746986 Our results demonstrate that the C9orf72 HRE is unstable through the reprogramming process; promoter hypermethylation is reduced in iPSCs, and 5hmC levels are enriched in primary and iPSC-derived motor neurons.
26723138 A few patients with schizophrenia / schizoaffective disorder carry C9orf72 repeat expansions; such individuals are highly likely to develop frontotemporal dementia or amyotrophic lateral sclerosis.
26691640 Hexanucleotide repeat expansion in C9ORF72 is not detected in the treatment-resistant schizophrenia patients of Chinese Han.
26690922 Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells
26674655 In a Belgian cohort, C9orf72 carriers had an earlier age of onset for frontotemporal dementia than TBK1 carriers.
26637796 This report that C9-BACexp mice exhibited the cardinal pathologic features seen in patients, including sense and antisense RNA foci and soluble DPR proteins at levels similar to those seen in brains of FTLD patients.
26564809 Data suggest that the conformation of C9orf72 hexanucleotide repeat expansion (HRE) DNA may provide structural basis for designing small molecules for the modulation of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) pathogenesis.
26540641 review of the genetic epidemiology and molecular pathophysiology of frontotemporal lobar degeneration /amyotrophic lateral sclerosis with hexanucleotide repeat expansions in C9orf72
26497991 Asymptomatic C9orf72 carriers show cortical and subcortical differences compared with non-carriers from the same family.
26473392 FTD patients with C9orf72 mutation were more likely to have ALS and psychosis. They had TDP-43 pathology.
26465714 C9orf72 mutations may be rare in frontotemporal lobar degeneration patients in India
26463209 These results suggest that replication of the GGGGCC repeat at C9orf72 is perturbed by the presence of expanded repeats, which has the potential to result in further expansion, leading to disease.
26437865 Study reveals associations with specific C9ORF72 transcripts and provides support for the presence of truncated transcripts and pre-mRNAs that may serve as templates for RAN translation
26408000 This study demonstrated that C9ORF72 undergoes alterations in cellular expression and localization throughout the time course analyzed, which may reflect differential expression of isoforms that are present in specific locations
26401819 in this cohort of patients with Early Onset Dementia, 3.4% had C9orf72 hexanucleotide expansions with the clinical phenotypes of bvFrontotemporal Dementia (FTD) or an overlap of bvFTD and MND.
26374446 Findings argue against a role of dipeptide repeat protein aggregation as major and exclusive pathomechanism in C9ORF72 pathogenesis
26350237 Findings implicate cerebellar abnormalities as a contributor to the neuropathological and clinical heterogeneity associated with the C9ORF72 repeat expansion
26348842 This study establishes cortical hyperexcitability as an intrinsic feature of symptomatic c9orf72 expansion-related ALS but not asymptomatic expansion carriers.
26324540 C9orf72 expansion mutations were found in 5 patients with frontotemporal dementia.
26308899 identification of substantial defect in RNA export resulting in retention of RNA in the nuclei of Drosophila cells expressing expanded G4C2 repeats and also in mammalian cells, including aged iPSC-derived neurons from patients with C9orf72-related disease
26308891 RanGAP physically interacts with hexanucleotide repeat expansion (HRE) RNA and is mislocalized in HRE-expressing flies, neurons from C9orf72 ALS patient-derived induced pluripotent stem cells (iPSC-derived neurons), and in C9orf72 ALS patient brain tissue
26275564 Hexanucleotide C9ORF72 expansions of with intermediate 20 to 29 repetitions could be associated with typical PD with psychosis or dementia and atypical parkinsonisms with dementia.
26254955 the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European Russian ALS patients is significantly lower than in Western European or Northern American ALS patients of Caucasian origin but higher than in Asian ALS patients.
26233805 The C9orf72 expansion does not play a major role in the pathogenesis of multiple sclerosis in patients from Sardinia.
26173439 Idiopathic dystonia is not associated with C9orf72 expansions in Japanese patients.
26166205 One patient with corticobasal syndrome had a large (>50 repeats) expansion in C9orf72
26146826 FTDC possible and probable bvFTD criteria seem to identify the majority of the C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms
26142124 This study study demonstrates the low frequency of the C9orf72 HRE in Chinese sALS patients from mainland China
26108573 No evidence that dipeptide repeat proteins are playing a pathogenic role in C9ORF72 mutant amyotrophic lateral sclerosis.
26085200 Study provided a quantitative analysis of poly-GA, poly-GR and poly-GP as well as poly-PR aggregating dipeptide repeat proteins in a neuropathologically characterized cohort of C9orf72 mutation patients using monoclonal antibodies
26083476 High GGGGCC Repeat Expansions of the C9orf72 Gene is associated with Machado-Joseph Disease.
26044557 C9orf72 loss-of-function, by itself, was found to be insufficient to cause motor neuron disease.
26032484 The discovery of c9orf72 gene has led to important scientific progresses and has considerably changed our clinical practice over the last few years--{review}
26031661 Study found that different C9ORF72 dipeptide repeat proteins have opposing roles in cell loss and suggested that the Notch pathway might be compromised in C9ORF72 frontotemporal dementia and amyotrophic lateral sclerosis
26022924 Study demonstrated that longer C9orf72 expansion length in peripheral DNA is correlated with shorter disease duration in patients with frontotemporal degeneration but not ALS
26004200 Small G4C2 expansions (e.g., 70 repeats) might be considered "pre-mutations" to reflect their propensity to expand in the next generation and become pathologic in amyotrophic lateral sclerosis.
25998110 Psychiatric presentations, including suicidal behavior, affective symptoms, psychotic symptoms, and excessive somatic complaints, seem to be particularly common in C9ORF72 carriers.
25943887 Study demonstrated that C9orf72 antisense but not sense foci are significantly associated with nuclear loss of TDP-43 in motor neurons
25934183 Hexanucleotide repeat expansions in C9orf72 were not found to be a causative factor or risk for multiple system atrophy in Chinese patients.
25835037 psychosis associated with expansions in the C9orf72 gene
25807132 the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene (Review)
25795648 There is evidence for neuroprotective properties of C9orf72 promoter hypermethylation.
25788698 defective trafficking of mRNA, as a consequence of impaired nuclear mRNA export, might affect translation efficiency and contribute to the pathogenesis of C9orf72 amyotrophic lateral sclerosis.
25765123 5 (5%) of the primary progressive aphasia (PPA) patients had a genetic mutation detected: GRN (n = 3) and C9ORF72 (n = 2).
25731823 Repeat expansions of C9orf72 have been associated with Amyotrophic Lateral Sclerosis and neurodegeneration disease.
25716178 The presence of (G4C2)n -methylation does not separate the C9orf72-phenotypes (ALS vs. ALS/FTLD vs. FTLD), but has the potential to predict large vs. intermediate repeat length.
25712133 In ALS patients, a less number of in C9orf72 GGGGCC repeats in the cerebellum and parietal lobe correlated with earlier age of onset and a larger number of repeats in the parietal lobe correlated with a more rapid progression.
25638642 In frontotemporal dementia and amyotrophic lateral sclerosis patients, C9orf72 repeat expansions were found.
25580746 iPSC-derived motoneurons carrying ALS mutations in TARDBP and C9ORF72 are dysfunctional despite maintaining viability
25580532 In C9ORF72 expansion carries, A generalized down-regulation of gene expression compared with controls was observed.
25575510 Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
25523491 Report of an "RNA-only", spatially and temporally inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion, supports a gain-of-function mechanism in C9orf72-associated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
25467142 Data showed that C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.
25442110 G4C2 hexanucleotide repeat expansion, located in the first intron of the C9ORF72 gene, represents a major genetic hallmark of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
25398948 Sense and anti-sense transcripts of the expanded repeat present in C9orf72 gene (dipeptide repeat proteins) may contribute to pathogenesis in amyotrophic lateral sclerosis possibly via ubiquitin-proteasome system dysfunction.
25388784 Study tested whether C9orf72 hypermethylation is associated with prolonged disease in C9orf72 mutation carriers; results support the hypothesis that expression of the hexanucleotide repeat expansion is associated with a toxic gain of function
25384182 This study demonistrated that upregulation of persistent Na+ conductances and reduced K+ currents were evident in both c9orf72F familial amyotrophic lateral sclerosis.
25382069 The data of this study showed that a total of 64.3% of familial and 27.8% of sporadic subjects carried potentially pathogenic novel or rare coding variants identified by sequencing or an expanded repeat in C9ORF72 or ATXN2.
25377888 Hexanucleotide repeat expansions in C9orf72 play a role in the pathogenesis of rapid eye movement sleep behavior disorder.
25326098 Expansions in C9orf72 do not have a major role in the pathogenesis of Parkinson disease.
25285776 This study confirmed that Sardinian FTD patients have peculiar genetic characteristics and that C9orf72 mutated patients have a distinctive clinical and neuropsychological profile.
25284081 The data showed that C9orf72 repeat expansions were not associated with onset of spastic paraplegia.
25273996 Patients with bvFTD due to the C9orf72 expansion show a similar pattern of network dysfunction despite contrasting atrophy patterns compared with sporadic bvFTD.
25248608 Its hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.
25239657 Our present study reveals eight variants that may account for the phenotypic variability reported in C9ORF72 expansion carriers
25207541 role of C9orf72 DNA and RNA in heme sequestration
25120191 In C9orf72 patients, Unc119 is detectable in 9.5 % of GA inclusions in the frontal cortex, but only in 1.6 % of GA inclusions in the cerebellum, an area largely spared of neurodegeneration
25115936 Study found no abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients
25103406 These findings are consistent with a dual toxicity mechanism, whereby both arginine-rich proteins and repeat RNA contribute to C9orf72-mediated neurodegeneration.
25098532 Study detected 10 patients concurrently carrying intermediate ATXN2 repeats and pathogenic C9orf72 expansion; occurrence of mutations in more than one gene supports the idea that amyotrophic lateral sclerosis could be considered an oligogenic disease
25085782 Its repeat expansions are associated with frontotemporal lobar degenerations.
25081482 Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.
25034271 The results of this study confirmed a possible role of the C9orf72 expansion in the genetic background of HD phenocopy syndrome.
24998634 This study demonstrated that the involvement of C9orf72 as a genetic modifier in spinal muscular atrophy is unlikely.
24950788 This study demonistratedt that Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
24931836 Meta-analysis identifies 19 genome-wide significant single nucleotide polymorphisms (SNPs) in C9orf72 on chromosome 9p21.2 and 1 SNP in amyotrophic lateral sclerosis and frontotemporal dementia cases.
24908669 we demonstrated that hypermethylation of the CpG-island 5'of the GC-repeat is expansion-specific, but not syndrome-specific (ALS versus FTLD).
24873727 An expanded GGGGCC hexanucleotide repeat in the first intron located between the 1st and 2nd non-coding exons of C9orf72 is the most frequent cause of frontotemporal dementia (FTD) and amyothropic lateral sclerosis (ALS).
24866401 Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are an important cause of both motor neuron disease (MND) and frontotemporal dementia (FTD).
24861139 study present Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion; report confirms that the hexanucleotide repeat expansion of C9ORF72 mutation has a diverse clinical presentation among members of the same family and shows that it is also present in Central-Eastern Europe
24836899 Its expanded repeat is genetic cause of amyotrophic lateral sclerosis and frontotemporal lovar degenerative disease.
24819148 C9ORF72 hexanucleotide repeat expansion is a cause of hippocampal sclerosis dementia.
24817207 a pathological exanucleotide repeat expansion of more that 600 repeats was found in a patient with C90FR72 with amylotrophic lateral sclerosis
24806409 This stuidy demonistrated that epigenetic silencing of the mutant C9orf72 allele may represent a protective counter-regulatory response to hexanucleotide repeat expansion.
24780888 This review summarize the C9orf72 most recently discovered 'high risk' genes in ALS.
24756204 increases the range of clinicopathologic presentations of C9ORF72 expanded hexanucleotide repeat to include psychiatric disorders such as depressive pseudodementia
24733620 Patients with hexanucleotide repeat expansions in C9orf72 can present with multiple system atrophy as well as amyotrophic lateral sclerosis or frontotemporal dementia
24615479 Amyotrophic lateral sclerosis that is positive for C9orf72 is characterized by only mild cerebral metabolic comparisons that show no prognostic difference.
24612676 Its expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.
24598541 results demonstrate that distinct C9orf72 HRE structural polymorphism at both DNA and RNA levels initiates molecular cascades leading to ALS/FTD pathologies, and provide the basis for a mechanistic model for repeat-associated neurodegenerative diseases
24573903 No larger (intermediate or expanded) repeats were found in these autopsy-confirmed Parkinson disease samples.
24559645 Hexanucleotide repeat expansion in C9ORF72 is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
24521566 Patients with C9ORF72-FTD selectively exhibited deficits of body schema processing in relation to healthy individuals and other patients with FTD.
24515836 Review discussiong associated clinical and investigation phenotypes relating to the C9ORF72 hexanucleotide repeat expansion and attempts to develop technologies to measure more accurately the size of the repeat region
24496499 Hypothesis paper attempting to answer: how many times did the C9ORF72 expansion occur throughout human history; how old is the expansion; and how did the expansion spread throughout Europe
24493408 Review discussing C9ORF72-related disease genotype/phenotype correlations and potential modifiers of clinical phenotypes
24445903 study describes a Caucasian kindred with frontotemporal dementia caused by the C9ORF72 expansion mutation, including a mother and her 2 sons; cases extend the existing phenotype of C9ORF72 mutation and highlight the potential significance of dipeptide repeat (DPR) translation early in disease development
24445580 The C9ORF72 mutation appears to be a common cause of behavioral variant frontotemporal dementia (FTD).
24442578 Study demonstrates that TMEM106B is the first reported genetic modifier in C9orf72 expansion-related frontotemporal lobar degeneration
24411481 No strong evidence to support a role for the repeat expansion at C9ORF72 in psychosis, though its gene has been strongly linked with amyotrophic lateral sclerosis and frontotemporal dementia.
24394885 Review aims to summarize the important findings from studies examining mechanisms of disease in expanded repeat C9ORF72 frontotemporal lobar degeneration and amyotrophic lateral sclerosis
24387986 Its hexanucleotide repeat expansion is a rare cause of schizophrenia.
24387985 Its mutation or expansion are rare cause of frontotemporal dementia in Korean population.
24385136 Study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expansion carriers
24378086 hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis and frontotemporal dementia.
24363131 This study extends the known phenotype of the C9orf72 expansion in both age at onset and movement disorder symptoms.
24356984 Review summarizes the complexity and heterogeneity of the neuropathology associated with the C9ORF72 expansion
24355526 suggesting that C9ORF72 does not play a major role in multiple sclerosis pathogenesis
24309270 Study shows that plasma pTDP-43 levels may be increased in some genetic forms of Fronto-Temporal Dementia (FTD), including those carrying a repeat expansion in the C9orf72 gene.
24291883 C9orf72 hexanucleotide (GGGGCC) repeat expansion in intron 1 was reported to be the most common cause of sporadic and familial amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD).
24286341 Family carries a GRN pathogenic mutation and a C9orf72 hexanucleotide repeat expansion. Pathologically the two cases were classified as FTLD-TDP type A, with additional p62-positive inclusions throughout the different brain regions.
24269022 Its repeat expansion is identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia.
24252571 Stuy suggests that expansions in C9ORF72 associated with Alzheimer's disease (AD) are a rare occurrence, and in those instances in the literature where these have been reported, the presence of AD may in fact be coincidental and unrelated to the expansion
24248382 RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
24212388 Extensive basal ganglia pathology is characteristic of amyotrophic lateral sclerosis (ALS) patients who carry the C9orf72 hexanucleotide repeat expansion.
24185425 The results of this study provided a potential explanation for the cell type specificity of neuronal degeneration caused by C9ORF72 mutations.
24170860 Antisense oligonucleotide-mediated degradation of sense and antisense C9orf72 RNA foci established as therapy for ALS and frontotemporal degeneration.
24169076 Its repeat expansion is identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia.
24126854 We conclude that Hereditary spastic paraplegia is most likely not associated with repeat expansions in C9ORF72.
24121957 We genotyped for the C9ORF72 hexanucleotide repeat expansion a population of 156 non-demented elderly subjects, recruited in a geriatric unit as control group for association studies in patients with Alzheimer's disease (AD)
24090760 The C9ORF72 mutations become important newly recognized causes of frontotemporal dementia, providing a more detailed characterization of the associated clinical and pathological features.
24085347 The high incidence of C9ORF72 mutations in Caucasian ALS patients raises the possibility of the additional identification for ALS-causative gene mutations, even in SALS.
24081456 The rate of C9orf72, MAPT, or GRN mutation-positive FTLD in this series was 15.4%. Categories designating the risk level for hereditary cause were termed high, medium, low, apparent sporadic, and unknown significance.
24080172 It is identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis.
24077574 This cohort confirms and adds clinical details to the reports of a high prevalence of psychotic phenomena in patients who have C9ORF72 mutations as well as FTD or amyotrophic lateral sclerosis.
24064469 The C9ORF72 repeat units number influences the phenotype of autosomal dominant frontotemporal lobar degeneration in terms of age of onset and associated clinical subtype.
24057670 Amyotrophic lateral sclerosis patients harbour a higher number of hexanucleotide repeats in C9orf72 than frontotemporal dementia patients.
24053774 This study suggested that intermediate repeat length may be associated with features of the C9orf72 phenotype in ALS patients.
24027057 The findings of this study indicated that co-occurrence of 2 evidently pathogenic mutations could contribute to the pleiotropy that is detected in patients with C9ORF72 repeat expansions
24011653 Repeat expansion sizes of C9orf72 correlate with disease severity and mortality in FTD and MND.
23962495 Screenings of C9ORF72 in other Middle East countries will reveal whether the low contribution of C9ORF72 to amyotrophic lateral sclerosis is feature of the entire region
23934648 In this review C9orf72 mutations are associated with amyotrophic lateral sclerosis and frontotemporal dementia cases of European ancestry.
23922030 the clinical and pathologic spectrum of C9ORF72 repeat expansion is wider than frontotemporal dementia and motor neuron disease, including cases of progressive amnestic dementia
23894576 that C9orf72 repeat expansions in the CNS are unlikely to arise either early or later in embryonic development in large enough numbers to cause diagnostic difficulties if blood DNA alone is being relied upon for testing.
23870417 Its repeat expansions are a frequent cause of familial and sporadic amyotrophic lateral sclerosis.
23869403 In Chinese patients with familial Alzheimer's disease, C9orf72 repeat expansions are not detected.
23845100 Our results suggest that intermediate copy numbers of the C9ORF72 repeat contribute to risk for Parkinson disease and essential tremor plus Parkinsonism.
23818065 Quantification of C9orf72 transcript levels in post-mortem brain demonstrated expression of all known C9orf72 transcript variants, but at a reduced level
23771489 The results of this study suggested a characteristic C9orf72 repeat expansion-specific neuroimaging signature in ALS, reflecting the higher frequency of cognitive and behavioral impairment within this subgroup.
23731538 Hypermethylation of the CpG island upstream of the C9orf72 G4C2 repeat is associated with the presence of the expansion in amyotrophic lateral sclerosis.
23720273 Loss of function of zebrafish ortholog of C9orf72 leads to abnormalities in neuronal development and phenotype.
23597494 show by repeat-primed PCR genotyping that the C9ORF72 expansion frequency varies by geographical region within the United States, with an unexpectedly high frequency in the Mid-West
23588498 All Chamorro participants on Guam with amyotrophic lateral sclerosis and parkinsonism-dementia complex, as well as control subjects, have normal repeats ranging from 2 to 17 copies; no pathogenic LRRK2 mutations are found.
23588422 The C9orf72 repeat expansions constitute a pathogenic mutation in familial Alzheimer's disease.
23587638 residual association at the C9orf72 locus in amyotrophic lateral sclerosis.
23558488 This review described a novel mutant gene (C9ORF72) in patient with frontotemporal degeneration.
23551834 The disease course in the two generations described here demonstrates that expansion of the C9ORF72 may be associated with a form of bipolar disorder that presents clinically with classic phenomenology and progression to neurodegenerative disease.
23473366 Study shows that the C9ORF72 hexanucleotide repeat expansion is a common cause of frontotemporal lobar degeneration.
23463871 cortical hyperexcitability is an intrinsic process in C9ORF72-linked familial amyotrophic lateral sclerosis
23437264 Our study indicates that the C9ORF72 repeat expansion accounts for a significant proportion of Australian and Spanish frontotemporal dementia cases.
23435409 Our data provide further evidence for the heterogeneity of phenotypes associated with the C9ORF72 mutation and indicate its association with a fluent progressive aphasia phenotype.
23434116 C9orf72 hexanucleotide repeat expansions were found in all neurodegenerative-disease categories tested and a third of the case series had diagnoses other than frontotemporal lobar degeneration and/or amyotrophic lateral sclerosis.
23423380 The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
23421625 Phenotype differences exist between patients with and without C9orf72 expansions who have frontotemporal dementia with amyotrophic lateral sclerosis.
23413259 Although rare, C9orf72 repeat expansions may be associated with clinically typical Parkinson's disease and parkinsonism.
23393093 These findings directly link the FTLD/ALS-associated genetic mutation to the predominant pathology in patients with C9orf72 hexanucleotide expansion.
23381195 This study identified hnRNP A3 as a first component of the so far enigmatic TDP-43-negative/p62-positive NCIs and NIIs in hippocampus, which are pathognomonic for cases with C9orf72 repeat expansions
23352322 C9orf72 G4C2 repeat expansions could be detected in clinical Alzheimer's disease patients.
23338682 C9orf72 expansion carriers developed frontotemporal lobar degeneration at an early age compared to patients without mutation.
23284068 Description of these families suggests that short C9ORF72 hexanucleotide expansions are also related to frontotemporal cognitive deterioration.
23273600 In a cohort of French-Canadian patients repeat expansions in C9orf72 did not play a major role in the pathogenesis of Parkinson's disease.
23264878 findings show using NMR and CD spectroscopy that the C9orf72 hexanucleotide expansion can form a stable G-quadruplex, which has profound implications for disease mechanism in amyotrophic lateral sclerosis and frontotemporal dementia
23261768 C9orf72 mutations are not a common cause of amyotrophic lateral sclerosis in patients from the Chinese mainland.
23254636 Penetrance for C9ORF72 repeat expansion in frontotemporal dementia is age- and gender-dependent.
23160421 Review of disease mechanisms by which C9ORF72 repeat expansions could lead to amyotrophic lateral sclerosis and frontotemporal dementia. [Review Article]
23117491 C9P cases may have a shorter survival in ALS and more rapid rate of cognitive decline related to frontal and parietal disease in FTLD.
23116878 C9ORF72 expansions are not a common cause of Parkinson's disease.
23111906 role of G4C2 intermediate repeat length on C9orf72 expression in frontotemporal lobar degeneration
23107433 our results support the notion that large C9ORF72 expansions lead to a phenotypic spectrum of neurodegenerative disease including Alzheimer's disease.
23100398 This study found that around 11% of patients with ALS carry a genetic mutation, with C9ORF72 being the commonest genetic a
23088937 Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population.
23084342 There was no evidence of association of C9orf72 hexanucleotide repeat length on disease risk or age-at-onset for Parkinson's disease and related disorders, essential tremor and restless legs syndrome
23063644 The lack of association between abnormal C9orf72 repeat expansion and parkinsonian syndromes might imply pathogenic mechanisms other than tau or Lewy body pathology.
23036583 C9ORF72 repeat expansions either do not cause schizophrenia, or do so rarely (less than 1% of cases).
23035801 In conclusion, this kindred demonstrates that the presentation of ALS within c9FTD/ALS families may vary considerably and electrophysiologic findings reflect this heterogeneity.
23012445 C9ORF72 repeat expansions were present in a Japanese cohort of amyotrophic lateral sclerosis patients, but they were rare
22985429 In conclusion, this GGGGCC-repeat expansion in C9ORF72 is not a cause of parkinsonism in the Swedish population.
22964911 Our findings further confirm the C9orf72 hexanucleotide repeat expansion as the causative mutation for c9 amyotrophic lateral sclerosis/frontotemporal dementia and strengthen the hypothesis that ALS and FTD belong to the same disease spectrum.
22964910 Behavioral variant frontotemporal dementia due to C9orf72 expansion displays some phenotypic heterogeneity and may be associated with hallucinations, parkinsonism, focal dystonia, and posterior brain atrophy.
22936364 Study indicates that the C9orf72 hexanucleotide expansion represents the most common genetic cause of amyotrophic lateral sclerosis (ALS) in Spanish individuals.
22892647 C9ORF72 expansion was identified in 29% of a cohort of frontotemporal dementia patients.
22875087 Patients with the C9ORF72 hexanucleotide repeat expansion develop frontotemporal dementia, ALS, or FTD-motor neuron disease with similar clinical and imaging features to sporadic cases.
22875086 The C9ORF72 repeat expansion is a relatively common cause of FTD in Australian populations, and is especially common in those with frontotemporal lobar degeneration, ALS, psychotic features, and a strong family history.
22843265 The hexanucleotide repeat expansion in C9ORF72 is a major cause of familial amyotrophic lateral sclerosis and apparently sporadic amyotrophic lateral sclerosis in the Netherlands
22840558 This study showed that Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
22815561 The resulys of this study confirmed that C9ORF72 GGGGCC hexanucleotide repeat expansions are a major cause of ALS and Frontotemporal Dementia-ALS.
22807188 patients have neuronal cytoplasmic inclusions that are not present in patients without c9ofr72 expansions
22766732 We found hexanucleotide expansion repeats of the C9ORF72 gene in 3 out of 114 patients with early-onset Alzheimer's disease
22766072 The genetic screening of C9ORF72 in a large cohort of Italian descent further confirmed the main role of the repeat expansion both in the familial and sporadic forms of amyotrophic lateral sclerosis in the Mediterranean region.
22742426 In conclusion, the cases now reported showed a very rapid progression, suggesting bulbar ALS could be particularly common and aggressive in patients with the C9orf72 hexanucleotide repeat expansion, in the Portuguese population.
22739338 coding and noncoding variants located in the 3'-UTR region of the SIGMAR1 gene are not the cause of FTLD-MND in our cohort, and more than half of this targeted cohort is genetically explained by C9ORF72 repeat expansions.
22732773 Abnormal expansion of a hexanucleotide repeat in the gene C9orf72 was found to be the most common genetic cause of both frontotemporal dementia and amyotrophic lateral sclerosis.
22727276 C9orf72 repeat expansion was found in 2 patients and 0 patients with sporadic or familial amyotrophic lateral sclerosis. The frequency of the C9orf72 repeat expansion among Japanese patients is much lower than in Western populations.
22721568 The data showed that the C9orf72 expansion is not commonly associated with Parkinson's disease.
22708871 We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected.
22702520 A C9ORF72 mutation modifies the pathologic phenotype of frontotemporal lobar degeneration with motor neuron disease (FTLD-TDP) type B.
22692064 all C9ORF72 hexanucleotide repeat expansion mutation cases derive from a single common founder and are now the most common cause of familial and sporadic amyotrophic lateral sclerosis in Western Europe
22673113 This study demonstrated the existence and importance of the C9ORF72 hexanucleotide repeat expansion in a Taiwanese ALS cohort of Chinese origin, and supports the global presence of the C9ORF72 repeat expansion in ALS.
22650353 Data indicate that the hexanucleotide expansion as a prevalent cause of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) disorders.
22571983 The hexanucleotide repeat expansion in chromosome 9 (C9ORF72) could be associated with early onset psychiatric presentations.
22564974 Results suggest that a simple monogenic mechanism is not likely to be the cause of C9orf72 repeat-related sporadic amyotrophic lateral sclerosis.
22550220 amyotrophic lateral sclerosis/frontotemporal dementia in Sardinian families carrying both hexanucleotide repeat expansion and TARDBP missense mutation
22502998 In conclusion, plasma GRN levels are not influenced by the hexanucleotide repeat expansion in C9ORF72 gene, and therefore, cannot be used as a reliable biomarker to detect mutation carriers.
22499346 Our results confirm the major role of expanded repeats in C9ORF72 as causative for ALS and provide evidence for specific phenotypic aspects compared to patients with other ALS-related genes.
22487746 The C9orf72 hexanucleotide repeat expansion in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
22483864 Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.
22459598 In summary, our findings suggest that the hexanucleotide expansion is probably associated with ALS, FTD, or FTD-ALS and occasional comorbid conditions such as Alzheimer's disease.
22445326 Expansions in the C9ORF72 gene therefore represent a common cause of ALS in Greece and this test will be diagnostically very important to implement in the Greek population.
22426854 Found a pathophysiological link between C9ORF72 expansions and ubiquilin-2 (UBQLN) proteins in amyotrophic lateral sclerosis and frontotemporal lobar degeneration that is associated with a highly characteristic pattern of UBQLN pathology.
22418734 In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population.
22410647 We conclude that the hexanucleotide repeat expansion is specific to the FTLD/ALS disease spectrum.
22406228 A common Mendelian genetic lesion in C9orf72 hexanucleotide repeat expansion causes sporadic amyotrophic lateral sclerosis and sporadic frontotemporal dementia in 17 regions world-wide.
22399793 C9ORF72 mutations can present with a behavioral variant FrontoTemporalDdementia-SP phenotype.
22399792 We recently published that a large hexanucleotide repeat expansion within the C9ORF72 gene causes chromosome 9p-linked amyotrophic lateral sclerosis (ALS)/fronto-temporal dementia (FTD). Here, I describe how the chromosome 9p21 locus was first identified
22366795 Patterns of atrophy therefore differed across subjects with C9ORF72, tau and progranulin mutations and sporadic frontotemporal dementia
22366794 C9ORF72 hexanucleotide repeat expansions were the most frequent mutation in our large cohort of patients with familial amyotrophic lateral sclerosis of Italian, Sardinian and German ancestry
22366793 Clinical diagnoses of subjects with repeat expansion in C9ORF72 included behavioural variant frontotemporal dementia with or without parkinsonism, amyotrophic lateral sclerosis, frontotemporal dementia/amyotrophic lateral sclerosis
22366792 clinically, C9ORF72 cases show the features of a relatively rapidly progressive, but otherwise typical, variant of amyotrophic lateral sclerosis
22366791 These findings corroborate the clinical importance of the C9ORF72 mutation in frontotemporal lobar degeneration
22344582 Our findings indicate that the C9ORF72 mutation is a major cause of familial frontotemporal dementia with TDP-43 pathology
22343411 (GGGGCC)n repeat expansions in C9orf72 as a cause of familial amyotrophic lateral sclerosis
22305801 patients with amyotrophic lateral sclerosis and the C9orf72 repeat expansion seem to present a recognisable phenotype characterised by earlier onset,presence of cognitive and behavioural impairment, specific neuroimaging changes, a family history of neurodegeneration with autosomal dominant inheritance and reduced survival
22300876 The hexanucleotide repeat expansion in C9orf72 is an important cause of frontotemporal dementia with and without amyotrophic lateral sclerosis
22300873 Mutations in the C9ORF72 gene may be a major cause not only of frontotemporal dementia with motor neuron disease but also of late onset psychosis
22228244 These findings support the C9ORF72 mutation as an important newly recognized cause of amyotrophic lateral sclerosis.
22216764 We found that C9ORF72 large repeat expansions were present in 3 of 342 families apparently affected with Alzheimer's disease. The hexanucleotide expansion was seen in 6 of 771 subjects in whom probable Alzheimer's disease was diagnosed.
22181065 all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked motor neuron disease/amyotrophic lateral sclerosis
22083254 Clinical and neuropathologic heterogeneity of c9FTD/ALS is associated with hexanucleotide repeat expansion in C9ORF72.
21944779 A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked amyotrophic lateral sclerosis-frontotemporal dementia.
21944778 Our findings indicate that repeat expansion in C9ORF72 is a major cause of both frontotemporal dementia and amyotrophic lateral sclerosis.
20423481 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

AA Sequence

MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGE      1 - 70
ILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIR     71 - 140
KGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDD    141 - 210
IGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFV    211 - 280
QGLLKDSTGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQ    281 - 350
DTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT    351 - 420
QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF             421 - 481
//

Text Mined References (255)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
27079381 2016 C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
26989253 2016 C9orf72 is required for proper macrophage and microglial function in mice.
26916632 2016 Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
26862832 2016 The C9ORF72 expansion sizes in patients with psychosis: a population-based study on the Northern Finland Birth Cohort 1966.
26810537 2016 C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China.
26746986 2016 C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.
26723138 2016 C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.
26691640 2015 Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.
26690922 2016 Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells.
26674655 2016 Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.
26637796 2015 C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.
26564809 2015 Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.
26540641 2015 Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.
26497991 2015 Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.
26473392 2015 Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.
26465714 2015 C9orf72 mutations may be rare in frontotemporal lobar degeneration patients in India.
26463209 2015 DNA Replication Dynamics of the GGGGCC Repeat of the C9orf72 Gene.
26437865 2015 Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.
26408000 2015 C9ORF72 expression and cellular localization over mouse development.
26401819 2015 Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia.
26374446 2015 Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
26350237 2015 Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.
26348842 2015 Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis.
26324540 2016 Frontotemporal Dementia and Psychiatric Illness: Emerging Clinical and Biological Links in Gene Carriers.
26308899 2015 GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
26308891 2015 The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
26275564 2015 C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
26254955 2015 C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
26233805 2015 A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion.
26173439 2015 Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan.
26166205 2015 Mutation analysis of C9orf72 in patients with corticobasal syndrome.
26146826 2015 The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.
26142124 2015 C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
26108573 2015 Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.
26085200 2015 Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
26083476 2015 Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.
26044557 2015 C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
26032484 Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion.
26031661 2015 FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions.
26022924 2015 Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.
26004200 2015 Jump from pre-mutation to pathologic expansion in C9orf72.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25998110 2015 The frontotemporal dementias.
25943887 2015 Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
25934183 2015 C9orf72 hexanucleotide expansion analysis in Chinese patients with multiple system atrophy.
25835037 2016 Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion.
25807132 2015 C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases.
25795648 2015 C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.
25788698 2015 Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS.
25765123 2015 Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia.
25731823 2015 The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.
25716178 2015 The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
25712133 2015 Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.
25638642 2015 C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.
25590632 2015 Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.
25580746 2015 Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability.
25580532 2015 Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations.
25575510 2015 Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.
25523491 2014 A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
25467142 2014 C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.
25442110 2015 Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
25416956 2014 A proteome-scale map of the human interactome network.
25398948 2015 Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.
25388784 2015 Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.
25384182 2015 Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis.
25382069 2015 Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
25377888 2014 C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.
25326098 2014 Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
25285776 2015 Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.
25284081 2014 C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients.
25273996 2014 Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
25248608 2015 C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.
25239657 2014 Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
25207541 2014 G-quadruplex structures formed by expanded hexanucleotide repeat RNA and DNA from the neurodegenerative disease-linked C9orf72 gene efficiently sequester and activate heme.
25120191 2014 C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration.
25115936 2015 No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients.
25103406 2014 C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
25098532 2014 Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
25085782 2014 Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
25081482 2014 Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.
25034271 2014 C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.
24998634 2014 Analysis of the C9orf72 gene in spinal muscular atrophy patients.
24950788 2014 Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
24908669 2014 Hypermethylation of the CpG-island near the C9orf72 G?C?-repeat expansion in FTLD patients.
24873727 2014 C9orf72; abnormal RNA expression is the key.
24866401 2014 Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
24861139 2014 ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.
24836899 2014 Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
24819148 2014 Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.
24817207 2014 C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle.
24806409 2014 C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.
24780888 2014 Dissection of genetic factors associated with amyotrophic lateral sclerosis.
24756204 2014 Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.
24733620 2014 Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
24615479 2014 Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study.
24612676 2014 C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.
24598541 2014 C9orf72 nucleotide repeat structures initiate molecular cascades of disease.
24573903 2014 Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.
24559645 2014 Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.
24549040 2014 C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
24521566 2014 Altered body schema processing in frontotemporal dementia with C9ORF72 mutations.
24515836 2014 The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.
24496499 2014 Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion.
24493408 2014 The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.
24445903 2014 Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability.
24445580 2014 Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile.
24442578 2014 TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
24411481 2014 Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample.
24394885 2014 Mechanisms of toxicity in C9FTLD/ALS.
24387986 2014 C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia.
24387985 2014 Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.
24385136 2014 TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
24378086 2014 Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
24363131 2014 C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
24356984 2014 The neuropathology associated with repeat expansions in the C9ORF72 gene.
24355526 2014 C9ORF72 repeat expansion not detected in patients with multiple sclerosis.
24309270 2014 Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
24291883 2013 [C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].
24286341 2014 A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
24269022 2014 Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.
24252571 2013 Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease.
24248382 2013 RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
24212388 2013 Basal ganglia involvement in amyotrophic lateral sclerosis.
24185425 2013 The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
24170860 2013 Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
24169076 2014 C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.
24126854 2014 Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.
24121957 2014 Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects.
24090760 2013 The clinical and pathological phenotypes of frontotemporal dementia with C9ORF72 mutations.
24085347 2013 Amyotrophic lateral sclerosis: an update on recent genetic insights.
24081456 2013 Development and validation of pedigree classification criteria for frontotemporal lobar degeneration.
24080172 2014 Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.
24077574 2013 Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort.
24064469 2014 C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.
24057670 2014 Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
24053774 2014 Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis.
24027057 2013 C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
24011653 2013 Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.
23962495 2014 Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients.
23934648 2014 C9ORF72 mutations in neurodegenerative diseases.
23922030 2013 Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.
23894576 2013 Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?
23870417 2013 Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study.
23869403 2013 C9orf72 repeat expansions are not detected in Chinese patients with familial ALS.
23845100 2013 C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
23818065 2013 Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
23771489 2013 Multiparametric MRI study of ALS stratified for the C9orf72 genotype.
23731538 2013 Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.
23720273 2013 Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.
23597494 2013 Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.
23588498 2013 C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.
23588422 2013 C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
23587638 2013 Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.
23558488 2013 Incorporating new diagnostic schemas, genetics, and proteinopathy into the evaluation of frontotemporal degeneration.
23555189 2013 Genome-wide association study identifies genetic determinants of urine PCA3 levels in men.
23551834 2013 C9ORF72 expansion in a family with bipolar disorder.
23473366 2013 Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.
23463871 2013 Pathophysiological insights into ALS with C9ORF72 expansions.
23437264 2013 C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.
23435409 2013 Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.
23434116 2013 Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
23423380 2013 The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.
23421625 2013 Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.
23413259 2013 C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
23393093 2013 The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
23381195 2013 hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.
23352322 2013 C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.
23338682 2013 Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.
23284068 2013 C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.
23273600 2013 Investigation of C9orf72 repeat expansions in Parkinson's disease.
23264878 2012 C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.
23261768 2013 Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.
23254636 2013 C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.
23160421 2012 How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
23117491 2013 Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.
23116878 2013 Parkinson disease is not associated with C9ORF72 repeat expansions.
23111906 2013 A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
23107433 2013 Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
23100398 2012 Extensive genetics of ALS: a population-based study in Italy.
23088937 2013 Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis.
23084342 2013 Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome.
23063644 2013 Screening for C9orf72 repeat expansions in parkinsonian syndromes.
23036583 2013 C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.
23035801 2013 Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.
23012445 2013 Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
22985429 2013 No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
22964911 2012 C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.
22964910 2012 Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.
22959728 2013 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
22936364 2013 Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
22892647 Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.
22875087 2012 Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features.
22875086 2012 C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
22843265 2012 Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.
22840558 2012 Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
22815561 2012 C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.
22807188 2012 C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism.
22766732 2012 Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers.
22766072 2012 C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.
22742426 2013 Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation.
22739338 2013 Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
22732773 2012 Advances in understanding the molecular basis of frontotemporal dementia.
22727276 2012 Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.
22721568 2012 Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.
22708871 2013 Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion.
22702520 2013 Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.
22692064 2013 The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
22673113 2012 A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.
22650353 2013 Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
22571983 2012 Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.
22564974 2012 Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study.
22550220 2012 ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.
22502998 2012 Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.
22499346 2012 Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
22487746 2012 Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS.
22483864 2012 Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.
22459598 2012 Screening for C9ORF72 repeat expansion in FTLD.
22445326 2012 High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.
22426854 2012 Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.
22418734 2012 C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
22410647 2012 Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.
22406228 2012 Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
22399793 2012 Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.
22399792 2012 Road to the chromosome 9p-linked ALS/FTD locus.
22366795 2012 Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.
22366794 2012 Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
22366793 2012 Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.
22366792 2012 Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
22366791 2012 Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.
22344582 2012 Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
22343411 2012 Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
22305801 2012 Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.
22300876 2012 The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
22300873 2012 Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.
22228244 2012 Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.
22216764 2012 Repeat expansion in C9ORF72 in Alzheimer's disease.
22181065 2012 An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.
22083254 2011 Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.
21944779 2011 A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
21944778 2011 Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
21516116 2011 Next-generation sequencing to generate interactome datasets.
20801718 2010 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
20801717 2010 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
20562461 2011 Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family.
20423481 2010 Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study.
19734901 2009 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
16495328 2006 Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12672552 2003 No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11015796 2000 Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.