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Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients Cover

Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients

Open Access
|Apr 2022

References

  1. 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.
  2. 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
  3. 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
  4. 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
  5. 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.
  6. 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
  7. 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
  8. 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
  9. 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.
  10. 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
  11. 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
  12. 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
  13. 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
DOI: https://doi.org/10.2478/amb-2022-0002 | Journal eISSN: 2719-5384 | Journal ISSN: 0324-1750
Language: English
Page range: 12 - 16
Submitted on: Nov 4, 2021
Accepted on: Dec 11, 2021
Published on: Apr 22, 2022
Published by: Sofia Medical University
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2022 S. Ormandzhiev, T. Todorov, T. Angelov, T. Chamova, V. Mitev, A. Todorova, I. Tournev, published by Sofia Medical University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.