Christodoulou K - Search Results

1

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: christodoulou k. BMC Med Genet. 2008 Apr 14;9:28. doi: 10.1186/1471-2350-9-28. BMC Med Genet. 2008. PMID: 18405395 Free PMC article.

2

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.

Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K. Georgiou DM, et al. Among authors: christodoulou k. Neurogenetics. 2002 Oct;4(2):93-6. doi: 10.1007/s10048-002-0138-4. Neurogenetics. 2002. PMID: 12481988

3

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: christodoulou k. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.

4

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

Sismani C, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema HG, van Bokhoven H, Tzoufi M, Georgiou I, Patsalis PC. Sismani C, et al. Among authors: christodoulou k. Am J Med Genet A. 2003 Sep 15;122A(1):46-50. doi: 10.1002/ajmg.a.20284. Am J Med Genet A. 2003. PMID: 12949971

5

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K. Kleopa KA, et al. Among authors: christodoulou k. Neurogenetics. 2004 Sep;5(3):171-5. doi: 10.1007/s10048-004-0184-1. Epub 2004 Jun 17. Neurogenetics. 2004. PMID: 15205993

6

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K. Georgiou DM, et al. Among authors: christodoulou k. Can J Neurol Sci. 2006 Aug;33(3):311-6. doi: 10.1017/s0317167100005199. Can J Neurol Sci. 2006. PMID: 17001820

7

A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.

Mintchev N, Zamba-Papanicolaou E, Kleopa KA, Christodoulou K. Mintchev N, et al. Among authors: christodoulou k. Neurology. 2009 Jan 6;72(1):28-32. doi: 10.1212/01.wnl.0000338530.77394.60. Neurology. 2009. PMID: 19122027

8

Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.

Dardiotis E, Koutsou P, Zamba-Papanicolaou E, Vonta I, Hadjivassiliou M, Hadjigeorgiou G, Cariolou M, Christodoulou K, Kyriakides T. Dardiotis E, et al. Among authors: christodoulou k. J Neurol Sci. 2009 Sep 15;284(1-2):158-62. doi: 10.1016/j.jns.2009.05.018. Epub 2009 Jun 3. J Neurol Sci. 2009. PMID: 19493541

9

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: christodoulou k. Neuroepidemiology. 2010;35(3):171-7. doi: 10.1159/000314351. Epub 2010 Jun 23. Neuroepidemiology. 2010. PMID: 20571287

10

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: christodoulou k. 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.

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