Georghiou A - Search Results

1

Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, Georghiou A, Hadjigeorgiou G, Papadimitriou A, Kyriakides T, Christodoulou K. Nicolaou P, et al. Among authors: georghiou a. Neuroepidemiology. 2010;35(3):171-7. doi: 10.1159/000314351. Epub 2010 Jun 23. Neuroepidemiology. 2010. PMID: 20571287

2

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Yoon G, Westmacott R, MacMillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B. Yoon G, et al. Among authors: georghiou a. J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):234-6. doi: 10.1136/jnnp.2007.127233. J Neurol Neurosurg Psychiatry. 2008. PMID: 18202221 No abstract available.

3

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

Nicolaou P, Georghiou A, Votsi C, Middleton LT, Zamba-Papanicolaou E, Christodoulou K. Nicolaou P, et al. Among authors: georghiou a. BMC Med Genet. 2008 Apr 14;9:28. doi: 10.1186/1471-2350-9-28. BMC Med Genet. 2008. PMID: 18405395 Free PMC article.

4

High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou K. Zamba-Papanicolaou E, et al. Among authors: georghiou a. Acta Myol. 2009 Jul;28(1):24-6. Acta Myol. 2009. PMID: 19772192 Free PMC article.

5

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Yoon G, Westmacott R, Macmillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B. Yoon G, et al. Among authors: georghiou a. BMJ Case Rep. 2009;2009:bcr08.2008.0688. doi: 10.1136/bcr.08.2008.0688. Epub 2009 Feb 2. BMJ Case Rep. 2009. PMID: 21686683 Free PMC article.

6

Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.

Votsi C, Zamba-Papanicolaou E, Georghiou A, Kyriakides T, Papacostas S, Kleopa KA, Pantzaris M, Christodoulou K. Votsi C, et al. Among authors: georghiou a. J Neurol Sci. 2012 Dec 15;323(1-2):154-7. doi: 10.1016/j.jns.2012.09.006. Epub 2012 Sep 29. J Neurol Sci. 2012. PMID: 23026538

7

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. Among authors: georghiou a. Neurol Sci. 2015 Oct;36(10):1829-34. doi: 10.1007/s10072-015-2263-5. Epub 2015 May 28. Neurol Sci. 2015. PMID: 26017350

8

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.

Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. Cinarli Yuksel F, et al. Among authors: georghiou a. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. J Neurol. 2023. PMID: 36738336 Free PMC article.

9

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.

Votsi C, Koutsou P, Ververis A, Georghiou A, Nicolaou P, Tanteles G, Christodoulou K. Votsi C, et al. Among authors: georghiou a. Front Neurol. 2023 Sep 20;14:1241195. doi: 10.3389/fneur.2023.1241195. eCollection 2023. Front Neurol. 2023. PMID: 37799281 Free PMC article.

10

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Liampas A, Nicolaou P, Votsi C, Georghiou A, Christodoulou K, Tanteles GA, Pantzaris M. Liampas A, et al. Among authors: georghiou a. Mol Biol Rep. 2024 Apr 29;51(1):590. doi: 10.1007/s11033-024-09515-4. Mol Biol Rep. 2024. PMID: 38683245

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