| First_Author | Year | Title | Paper |
| Andersen | 2012 | Mutation in C9orf72 changes the boundaries of ALS and FTD | Full_Paper |
| Bigio | 2011 | C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology | Full_Paper |
| Bigio | 2012 | Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS | Full_Paper |
| Boeve | 2012 | Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 | Full_Paper |
| Boxer | 2010 | Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family | Full_Paper |
| Brettschneider | 2012 | Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion | Full_Paper |
| Byrne | 2012 | Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study | Full_Paper |
| Calvo | 2012 | Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene | Full_Paper |
| Chester | 2012 | Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation | Full_Paper |
| Chio | 2012 | ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations | Full_Paper |
| Chio | 2012 | Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 | Full_Paper |
| Conte | 2012 | Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation | Full_Paper |
| Cooper-Knock | 2012 | Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 | Full_Paper |
| DeJesus-Hernandez | 2011 | Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS | Full_Paper |
| García-Redondo | 2012 | Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide | Full_Paper |
| Gijselinck | 2010 | Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis | Full_Paper |
| Gijselinck | 2012 | 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 | Full_Paper |
| Herdewyn | 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 | Full_Paper |
| Hosler | 2000 | Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22 | Full_Paper |
| Iida | 2011 | Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians | Full_Paper |
| Ishiura | 2012 | C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan | Full_Paper |
| Jones | 2013 | Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat | Full_Paper |
| Laaksovirta | 2010 | Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study | Full_Paper |
| Lattante | 2012 | Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease | Full_Paper |
| Le Ber | 2009 | Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease | Full_Paper |
| Luty | 2008 | Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9 | Full_Paper |
| Majounie | 2012 | Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study | Full_Paper |
| Millecamps | 2012 | Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes | Full_Paper |
| Mok | 2012 | High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients | Full_Paper |
| Morita | 2006 | A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia | Full_Paper |
| Morris | 2012 | Recent advances in the genetics of the ALS-FTLD complex | Full_Paper |
| Murray | 2011 | Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 | Full_Paper |
| Ogaki | 2012 | Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis | Full_Paper |
| Orr | 2011 | FTD and ALS: genetic ties that bind | Full_Paper |
| Ostojic | 2003 | No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis | Full_Paper |
| Pamplett | 2012 | Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study | Full_Paper |
| Pearson | 2010 | Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p | Full_Paper |
| Rademakers | 2012 | C9orf72 repeat expansions in patients with ALS and FTD | Full_Paper |
| Ratti | 2012 | C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect | Full_Paper |
| Renton | 2011 | A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD | Full_Paper |
| Rutherford | 2012 | C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository | Full_Paper |
| Sabatelli | 2012 | C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population | Full_Paper |
| Savica | 2012 | Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72Characterization of a Family With c9FTD/ALS | Full_Paper |
| Shatunov | 2010 | Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study | Full_Paper |
| Simón-Sánchez | 2012 | The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions | Full_Paper |
| Smith | 2012 | The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder | Full_Paper |
| Stewart | 2012 | Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p | Full_Paper |
| Valdmanis | 2007 | Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p | Full_Paper |
| van Es | 2009 | Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis | Full_Paper |
| van Langenhove | 2012 | The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum | Full_Paper |
| Vance | 2006 | Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 | Full_Paper |
| Wood | 2011 | Amyotrophic lateral sclerosis: A hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementia | Full_Paper |