[
1. Bassi S, Tripathi T, Monziani A, et al. Neuroepigenomics in Aging and Disease (Part of: Advances in Experimental Medicine and Biology Book 978) 1st ed., 2017 Edition by Raul Delgado-Morales (Editor) Publisher: Springer, Vol. 978, Experimental Cell Research; 244-253.
]Search in Google Scholar
[
2. Hübers A, Marroquin N, Schmoll B, et al. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Neurobiol. Aging. 2014 May;35(5):1214.e1-1214.e6.10.1016/j.neurobiolaging.2013.11.03424378086
]Search in Google Scholar
[
3. Marogianni C, Rikos D, Provatas A, et al. The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database. Neurobiol. Aging. 2019 Dec 1;84:238.e25-238.e34.10.1016/j.neurobiolaging.2019.04.01231126629
]Search in Google Scholar
[
4. Majounie E, Renton AE, Mok K, 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 Apr;11(4):323-30.10.1016/j.yneu.2012.05.040
]Search in Google Scholar
[
5. Chio A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9orf72. Brain. 2012 Mar 1;135(3):784-93.
]Search in Google Scholar
[
6. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct 20;72(2):245-56.10.1016/j.neuron.2011.09.011320298621944778
]Search in Google Scholar
[
7. Balendra R, Isaacs AM. C9orf72-mediated ALS and FTD: multiple pathways to disease. Nat. Rev. Neurol. 2018 Sep 17;14(9):544-58.10.1038/s41582-018-0047-2641766630120348
]Search in Google Scholar
[
8. Mehrabian S, Thonberg H, Raycheva M, et al. Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort. Toft M, editor. PLoS One. 2018 Dec 14;13(12):e0208383.10.1371/journal.pone.0208383629438430550541
]Search in Google Scholar
[
9. Sarafov S. Clinical-genetic and epidemiological studies in transthyretin familial amyloid polyneuropathy and in hereditary and familial amyotrophic lateral sclerosis in Bulgaria. Dissertation for Doctor of Medical Science scientific degree, Sofia, 2020.
]Search in Google Scholar
[
10. Dillen L, Van Langenhove T, Engelborghs S, et al. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders- Belgian cohort of frontotemporal lobar degeneration patients. Neurobiol Aging. 2013 Jun;34(6):1711.e1-1711.e5.10.1016/j.neurobiolaging.2012.12.00723312802
]Search in Google Scholar
[
11. Van der Zee J, Gijselinck I, Van Mossevelde S, et al. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Hum Mutat. 2017;38(3):297-309.10.1002/humu.23161532464628008748
]Search in Google Scholar
[
12. Van der Zee J, Gijselinck I, Dillen L, et al. A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats. Hum Mutat. 2013;34(2):363-73.10.1002/humu.22244363834623111906
]Search in Google Scholar
[
13. Lysogorskaia EV, Abramycheva NY, Zakharova MN, et al. Genetic studies of Russian patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Front Degener. 2016;17(1-2):135-41.10.3109/21678421.2015.110710026551617
]Search in Google Scholar
