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Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
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. Kakouri AC, et al. Among authors: tanteles ga. Cell Biosci. 2022 Mar 11;12(1):29. doi: 10.1186/s13578-022-00754-1. Cell Biosci. 2022. PMID: 35277195 Free PMC article.
Genetic findings of Cypriot spinal muscular atrophy patients.
Theodorou L, Nicolaou P, Koutsou P, Georghiou A, Anastasiadou V, Tanteles G, Kyriakides T, Zamba-Papanicolaou E, Christodoulou K. Theodorou L, et al. Neurol Sci. 2015 Oct;36(10):1829-34. doi: 10.1007/s10072-015-2263-5. Epub 2015 May 28. Neurol Sci. 2015. PMID: 26017350
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
Alexandrou A, Papaevripidou I, Tsangaras K, Alexandrou I, Tryfonidis M, Christophidou-Anastasiadou V, Zamba-Papanicolaou E, Koumbaris G, Neocleous V, Phylactou LA, Skordis N, Tanteles GA, Sismani C. Alexandrou A, et al. Among authors: tanteles ga. J Genet. 2016 Dec;95(4):839-845. doi: 10.1007/s12041-016-0698-y. J Genet. 2016. PMID: 27994182 Free article.
A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
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. Lambrianides S, et al. Among authors: tanteles ga. J Neurol Sci. 2020 Nov 15;418:117101. doi: 10.1016/j.jns.2020.117101. Epub 2020 Aug 18. J Neurol Sci. 2020. PMID: 32866815 No abstract available.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Among authors: tanteles ga. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.
Neocleous V, Fanis P, Toumba M, Tanteles GA, Schiza M, Cinarli F, Nicolaides NC, Oulas A, Spyrou GM, Mantzoros CS, Vlachakis D, Skordis N, Phylactou LA. Neocleous V, et al. Among authors: tanteles ga. Front Endocrinol (Lausanne). 2020 Aug 28;11:626. doi: 10.3389/fendo.2020.00626. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32982993 Free PMC article.
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