Gene Symbol: C9orf72
Description: chromosome 9 open reading frame 72
Alias: ALSFTD, FTDALS, protein C9orf72
- Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22B A Hosler
Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, MGH East, Bldg 149, 13th St, Charlestown, MA 02129, USA
JAMA 284:1664-9. 2000..An understanding of the genetic bases of combined disorders, such as amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD), will likely provide insight into mechanisms of these and related neurodegenerative diseases...
- Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSMariely DeJesus-Hernandez
Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
Neuron 72:245-56. 2011..Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively ..
- Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association studyHannu Laaksovirta
Department of Neurology, Helsinki University Central Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland
Lancet Neurol 9:978-85. 2010..We aimed to identify genetic risk factors for ALS in the Finnish population...
- Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyAleksey Shatunov
King s College London, Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, London, UK
Lancet Neurol 9:986-94. 2010....
- Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS familyAdam L Boxer
UCSF Memory and Aging Center, University of California San Francisco, CA 94143, USA
J Neurol Neurosurg Psychiatry 82:196-203. 2011..Previous studies have identified a region on chromosome 9p that is associated with FTD and ALS...
- Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only studyMarian Suarez-Gestal
Laboratorio Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria Hospital Clinico Universitario de Santiago, Travesia Choupana sn, Santiago de Compostela, 15706, Spain
Arthritis Res Ther 12:R72. 2010..This study is very important because, according to published simulations, associations as strong as the reported ones will mean that these SNPs could be used as predictors of response at the individual level...
- Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosisMichael A van Es
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
Nat Genet 41:1083-7. 2009..01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees...
- Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3Caroline Vance
Department of Neurology, King s College London School of Medicine, London, UK
Brain 129:868-76. 2006..02 (theta = 0) at D9S1878. Recombination narrowed the conserved haplotype to 12 cM (11 Mb) at 9p13.2-21.3 (flanking markers D9S2154 and D9S1874). Bioinformatic analysis of the region has identified 103 known genes...
- No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosisJovanka Ostojic
Uppsala University, Department of Public Health and Caring Science, Division of Geriatrics, Uppsala, Sweden
Neurosci Lett 340:245-7. 2003..Our conclusion is therefore that additional loci involved in these two disorders must be operating...
- A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDAlan E Renton
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
Neuron 72:257-68. 2011..We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region...
- Eye Movement Control in Normal Elderly and MCIAdam L Boxer; Fiscal Year: 2010..The data generated from this project will provide a new test to physicians that they can use during a patient visit to help decide who is at greatest risk for dementia and potentially who may benefit from such early treatment. ..
- Four Repeat Tauopathy Neuroimaging InitiativeAdam L Boxer; Fiscal Year: 2010..The data generated from this project will allow researchers to design better clinical trials to test the efficacy of new tau- directed drugs in humans. ..