References
- DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011; 72:245–56.
- Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
- Gomez-Tortosa E, Gallego J, Guerrero-Lopez R, Marcos A, Gil-Neciga E, Sainz MJ, et al. C9orf72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration. Neurology. 2013;80:366–70.
- Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population based cohort study. Lancet Neurol. 2012;11:232–40.
- Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM, et al. C9orf72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS One. 2013;8:e56899.
- Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H. High frequency of the expanded C9orf72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging. 2012;33:1851, e1–5.
- Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9orf72. Brain. 2012;135:751–64.
- Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11:323–30.
- Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, et al. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. 2012;135:723–35.
- Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurro MR, Volanti P, et al. C9orf72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging. 2012;33:1848 e15–20.
- Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, et al. Length of normal alleles of C9orf72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012;33:2950 e5–7.
- van der Zee J, Gijselinck I, Dillen L, van Langenhove T, Theuns J, Engelborghs S, et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat. 2013;34:363–73.
- Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet. 2001;10:1449–54.