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C9orf72 gene

Known as: Chromosome 9 Open Reading Frame 72 Gene, MGC23980, C9ORF72 
This gene may play a role in cell death.
National Institutes of Health

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Related topics

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C9orf72 gene GGGGCC repeat analysis:Find:Pt:Amnio fld:Doc:MolgenGLIPR2 gene

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C9orf72 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy
ABSTRACT Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS-FTD) are devastating neurodegenerative disease affecting… 
2015
2015
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
Priya Gami, Christina Murray, Lucia Schottlaender, Conceicao Bettencourt, Eduardo De Pablo Fernandez ... Tamas Revesz ... et al. 
Highly Cited
2013
Highly Cited
2013
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21… 
Highly Cited
2013
Highly Cited
2013
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
Highly Cited
2013
Highly Cited
2013
C9ORF72 expansions, parkinsonism, and Parkinson disease
Objective: To determine the histopathologic bases for the observed incidence of parkinsonism in families with C9ORF72 expansions… 
2013
2013
Frontotemporal lobar degeneration with TDP‐43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation
Mutations in C9ORF72 resulting in expanded hexanucleotide repeats were recently reported to be the underlying genetic abnormality… 
2012
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
Motor neuron degeneration in amyotrophic lateral sclerosis (ALS) has a familial cause in 10% of patients. Despite significant… 
Highly Cited
2012
Highly Cited
2012
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
Highly Cited
2012
Highly Cited
2012
Screening for C9ORF72 repeat expansion in FTLD
2012
2012
Psychosis, C9ORF72 and dementia with Lewy bodies
Hexanucleotide repeat expansions in the C9ORF72 gene are an important cause of frontotemporal dementia (FTD) and amyotrophic… 
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