1. Home
  2. THE CING
  3. Biomedical Sciences
  4. Neurogenetics Department
  5. Research
  6. Publications Archive

Neurogenetics Department

Publications Archive

Original, peer reviewed articles

 

  1. Votsi C, Tomazou M, Nicolaou P, Pantzaris MC, Pitsas G, Adamou A, Kleopa KA, Zamba-Papanicolaou E, Christodoulou K. RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls. Neurol Genet. 2024 Apr 25;10(3):e200149. doi: 10.1212/NXG.0000000000200149. PMID: 38685975; PMCID: PMC11057437.
  2. Liampas A, Nicolaou P, Votsi C, Georghiou A, Christodoulou K, Tanteles GA, Pantzaris M. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia. Mol Biol Rep. 2024 Apr 29;51(1):590. doi: 10.1007/s11033-024-09515-4. PMID: 38683245. 
  3. Mitsi E, Christodoulou C, Nicolaou P, Christodoulou K, Zamba-Papanicolaou E. The influence of environmental risk factors in the development of ALS in the Mediterranean island of Cyprus. Front Neurol. 2023, Accepted for publication on 02 November 2023.
  4. Votsi C, Koutsou P, Ververis A, Georghiou A, Nicolaou P, Tanteles G, Christodoulou K. Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript. Front Neurol. 2023 Sep 20;14:1241195. doi: 10.3389/fneur.2023.1241195. PMID: 37799281; PMCID: PMC10548546.  Open Access at: https://www.frontiersin.org/articles/10.3389/fneur.2023.1241195/full
  5. Ververis A, Kyriakou S, Ioannou K, Chatzopoulou PS, Panayiotidis MI, Plioukas M, Christodoulou K. Chemical Profiling and Antioxidant and Anti-Amyloid Capacities of Salvia fruticosa Extracts from Greece. Plants (Basel). 2023 Sep 6;12(18):3191. doi: 10.3390/plants12183191. PMID: 37765357; PMCID: PMC10535607. Open Access at: https://www.mdpi.com/2223-7747/12/18/3191
  6. Ververis A, Ioannou K, Kyriakou S, Violaki N, Panayiotidis MI, Plioukas M, Christodoulou K. Sideritis scardica Extracts Demonstrate Neuroprotective Activity against Aβ25-35 Toxicity. Plants (Basel). 2023 Apr 20;12(8):1716. doi: 10.3390/plants12081716. PMID: 37111938; PMCID: PMC10142657. Open Access at: https://www.mdpi.com/2223-7747/12/8/1716
  7. Parissis D, Christodoulou K, Kleopa KA. Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E). Neurol Sci. 2023 Feb 6. doi: 10.1007/s10072-023-06652-9. Epub ahead of print. PMID: 36746843.
  8. Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. PMID: 36738336; PMCID: PMC10130110. Open Access at: https://link.springer.com/article/10.1007/s00415-023-11581-w
  9. Chairta PP, Nicolaou P, Christodoulou K. Enrichr in silico analysis of MS-based extracted candidate proteomic biomarkers highlights pathogenic pathways in systemic sclerosis. Sci Rep. 2023 Feb 2;13(1):1934. doi: 10.1038/s41598-023-29054-5. PMID: 36732374; PMCID: PMC9894849. Open Access at: https://www.nature.com/articles/s41598-023-29054-5
  10. Minadakis G, Christodoulou K, Tsouloupas G, Spyrou GM. PathIN: an integrated tool for the visualization of pathway interaction networks. Computational and Structural Biotechnology Journal. 2023;21:378-387. Doi: 10.1016/j.csbj.2022.12.028. Open Access at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9798270/
  11. Chrysanthou A, Ververis A, Christodoulou K. ANO10 Function in Health and Disease. Cerebellum. 2022 Jun 1. doi: 10.1007/s12311-022-01395-3. Epub ahead of print. PMID: 35648332. Open Access at: https://link.springer.com/article/10.1007/s12311-022-01395-3
  12. Kakouri AC, Votsi C, Oulas A, Nicolaou P, Aureli M, Lunghi G, Samarani M, Compagnoni GM, Salani S, Di Fonzo A, Christophides T, Tanteles GA, Zamba-Papanicolaou E, Pantzaris M, Spyrou GM, Christodoulou K. Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia. Cell Biosci. 2022 Mar 11;12(1):29. doi: 10.1186/s13578-022-00754-1. PMID: 35277195. Open Access at: https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-022-00754-1
  13. Votsi C, Ververis A, Nicolaou P, Christou YP, Christodoulou K, Zamba-Papanicolaou E. A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia. Front Genet. 2022 Jan 13;12:812640. doi: 10.3389/fgene.2021.812640. PMID: 35096021; PMCID: PMC8793673. Open Access at: https://www.frontiersin.org/articles/10.3389/fgene.2021.812640/full
  14. Koutsis G, Kastritis E, Kontogeorgiou Z, Kartanou C, Kokotis P, Rentzos M, Breza M, Kleopa KA, Christodoulou K, Oikonomou E, Anastasakis A, Angelidakis P, Sarmas I, Kargiotis O, Tzagournissakis M, Zaganas I, Foukarakis E, Sachpekidis V, Papathoma A, Panas M, Stefanis L, Dimopoulos MA, Karadima G. Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country. Neuromuscul Disord. 2021 Dec;31(12):1251-1258. doi: 10.1016/j.nmd.2021.09.008. Epub 2021 Sep 29. PMID: 34740514.
  15. Nicolaou P, Tanteles GA, Votsi C, Zamba-Papanicolaou E, Papacostas SS, Christodoulou K, Christou YP. A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature. Front Genet. 2021 Nov 19;12:746101. doi: 10.3389/fgene.2021.746101. PMID: 34868216; PMCID: PMC8640139. Open Access at: https://www.frontiersin.org/articles/10.3389/fgene.2021.746101/full
  16. Oulas A, Richter J, Zanti M, Tomazou M, Michailidou K, Christodoulou K, Christodoulou C, Spyrou GM. In depth analysis of Cyprus-specific mutations of SARS-CoV-2 strains using computational approaches. BMC Genom Data. 2021 Nov 13;22(1):48. doi: 10.1186/s12863-021-01007-9. PMID: 34773976; PMCID: PMC8590444. Open Access at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590444/
  17. Aristodimou A, Antoniades A, Dardiotis E, Loizidou EM, Spyrou GM, Votsi C, Christodoulou K, Pantzaris M, Grigoriadis N, Hadjigeorgiou GM, Kyriakides T, PattichiS CS. A Framework for Efficient N-Way Interaction Testing in Case/Control Studies With Categorical Data. IEEE Open Journal of Engineering in Medicine and Biology, vol. 2, pp. 256-262, 2021, doi: 10.1109/OJEMB.2021.3100416.
  18. Dangouloff T, Vrščaj E, Servais L, Osredkar D, SMA NBS World Study Group (SMA NBS World Study Group: Adoukonou T, Aryani O, Barisic N, Bashiri F, Bastaki L, Benitto A, Ben Omran T, Bernert G, Bertini E, Borde P, Born P, Boustani R-M, Butoianu N, Castiglioni C, Catibusic F, Chan S, Chien YH, Christodoulou K, Dejsuphong D, Farrar M, Filip D, Goemans N, Guinhouya K, Haberlova J, Hadzsiev K, Hovhannesyan K, Isohanni P, Ivanovic Radovic N, Jacquier D, Jalloh A, Jedrzejowska M, Kandawasvika G, Kaputu C, Kawatu N, Kernohan K, Kirschner J, Klink B, Kodsy S, Kouame-Assouan AE, Kravljanac R, Kreile M, Litvinenko I, McMillan H, Mesa S, Mohamed I, Muaremoska Kanzoska L, Nevo Y, Nguefack S, Nkole K, O'Grady G, O'Rourke D, Oskoui M, Piazzon F, Poddighe D, Prasauskiene A, Prieto J, Rasmussen M, Razafindrasata S, Saha N, Saito K, Sakadi F, Sangare M, Schroth M, Shalkevich L, Shatillo A, Suthar R, Szabo L, Tatishvili N, Tazir M, Tizzano E, Topaloglu H, Tulinius M, van der Pol L, Vazquez G, Vlodavets D, Wanigasinghe J, Wilmshurst J, Xiong H, Zafeiriou D, Zamba E). Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7. PMID: 33985857
  19. Zanti M, Michailidou K, Loizidou MA, Machattou C, Pirpa P, Christodoulou K, Spyrou GM, Kyriacou K, Hadjisavvas A. Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panel. BMC Bioinformatics. 2021 Apr 28;22(1):218. doi: 10.1186/s12859-021-04144-1. PMID: 33910496 Open Access at: https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-021-04144-1
  20. Ververis A, Savvidou G, Ioannou K, Nicolaou P, Christodoulou K, Plioukas M. Greek Sage Exhibits Neuroprotective Activity against Amyloid Beta-Induced Toxicity. Evid Based Complement Alternat Med. 2020 Dec 7;2020:2975284. doi: 10.1155/2020/2975284. PMID: 33505483; PMCID: PMC7805276. Open Access at: https://www.hindawi.com/journals/ecam/2020/2975284/
  21. Lambrianides S, Nicolaou P, Michaelidou M, Kakouris P, Votsi C, Petrou PP, Drousiotou A, Minaidou A, Demetriou P, Voulgaris C, Christodoulou K, Tanteles GA, Pantzaris M. A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia. J Neurol Sci. 2020 Aug 18;418:117101. doi: 10.1016/j.jns.2020.117101. Epub ahead of print. PMID: 32866815.
  22. Kakouri AC, Votsi C, Tomazou M, Minadakis G, Karatzas E, Christodoulou K, Spyrou GM. Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways. Int J Mol Sci. 2020 Sep 14;21(18):E6722. doi: 10.3390/ijms21186722. PMID: 32937819. Open Access at: https://www.mdpi.com/1422-0067/21/18/6722
  23. Chairta P, Nicolaou P, Sokratous K, Galant C, Houssiau F, Oulas A, Spyrou GM, Alarcon-Riquelme ME, Lauwerys BR, Christodoulou K. Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches. Arthritis Res Ther. 2020 May 7;22(1):107. doi: 10.1186/s13075-020-02196-x. PMID: 32381114. Open Access at: https://arthritis-research.biomedcentral.com/articles/10.1186/s13075-020-02196-x
  24. Dardiotis E, Andreou S, Aloizou AM, Panayiotou E, Siokas V, Ioannou MN, Vounou E, Christodoulou K, Tanteles GA, Michaelides D, Kyriakides T. The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients. Neurol Sci. 2020 May;41(5):1163-1170. doi: 10.1007/s10072-019-04176-9. Epub 2020 Jan 2. PubMed PMID: 31897943.
  25. Chairta P, Psarelis S, Michailidou K, Demetriou C, Symeonidou S, Nicolaou P, Christodoulou K. Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study. Genet Test Mol Biomarkers. 2020 Apr 21. doi: 10.1089/gtmb.2019.0255. Epub ahead of print. PMID: 32315557. Open Access at: https://www.liebertpub.com/doi/10.1089/gtmb.2019.0255?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed
  26. Christoforou S, Christodoulou K, Anastasiadou V, Nicolaides P. Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet. 2020 Mar;63(3):103765. doi: 10.1016/j.ejmg.2019.103765. Epub 2019 Sep 16. PMID: 31536831.
  27. Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation. J Med Genet. 2020 Mar;57(3):178-186. doi: 10.1136/jmedgenet-2019-106108. Epub 2019 Sep 11. PMID: 31511340; PMCID: PMC7042970. Open Access at: https://jmg.bmj.com/content/57/3/178.long
  28. Koniali L, Hadjisavvas A, Constantinidou A, Christodoulou K, Zamba-Papanicolaou E, Demetriou C, Pitris C, Pattichis C, Kyriacou K. Risk factors for breast cancer brain metastases: A systematic review. Oncotarget. 2020 Feb 11;11(6):650-669. doi: 10.18632/oncotarget.27453. PMID: 32110283; PMCID: PMC7021234. Open Access at: https://www.oncotarget.com/article/27453/text/
  29. Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium; SYNaPS Study Group. PDXK mutations cause polyneuropathy responsive to PLP supplementation. Ann Neurol. 2019 Aug;86(2):225–240. doi:10.1002/ana.25524. PMID: 31187503. Open Access at: https://onlinelibrary.wiley.com/doi/10.1002/ana.25524
  30. Minaidou A, Nicolaou P, Christodoulou K. Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR. PLoS One. 2019 Feb 6;14(2):e0211814. doi: 10.1371/journal.pone.0211814. eCollection 2019. PMID: 30726272 Open Access at: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211814
  31. Dardiotis E, Panagiotou E, Siokas V, Aloizou AM, Christodoulou K, Hadjisavvas A, Pantzaris M, Grigoriadis N, Hadjigeorgiou GM, Kyriakides T. Gene variants of adhesion molecules predispose to Multiple Sclerosis: A case-control Study. Neurol Genet. 2019 Jan 16;5(1):e304. doi: 10.1212/NXG.0000000000000304. eCollection 2019 Feb. PMID: 30697591 Open Access at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340332/
  32. Kakouri AC, Christodoulou CC, Zachariou M, Oulas A, Minadakis G, Demetriou CA, Votsi C, Zamba-Papanicolaou E, Christodoulou K, Spyrou GM. Revealing Clusters of Connected Pathways through Multisource Data Integration in Huntington’s disease and Spastic Ataxia. IEEE J Biomed Health Inform. 2019 Jan;23(1):26-37. doi: 10.1109/JBHI.2018.2865569. Epub 2018 Aug 30. PMID: 30176611   

 

2018 and earlier publications

Related Articles
Current Grants

EU-H2020-WIDESPREAD-2014-2 GA: 669026 Christodoulou (PI) 07/01/2015 – 06/30/2020 Establishment of the Bioinformatics ERA Chair at the Cyprus Institute of Neurology and Genetics – ...

Previous Grants

Molecular genetic study of Friedreich’s ataxia; Funding body: Muscular Dystrophy Association (USA); Co-investigator; Support period: 05/1992 – 04/1995; Total grant: US $ 178,200. ...

winner