Neurogenetics Department
Publications Archive
Original, peer reviewed articles
Publications Archive
- 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
- 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
- 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
- Andreou S, Panayiotou E, Michailidou K, Pirpa P, Hadjisavvas A, El Salloukh A, Barnes D, Antoniou A, Christodoulou K, Tanteles G, Kyriakides T. Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset. Amyloid. 2018 Dec 20:1-7. doi: 10.1080/13506129.2018.1534731. [Epub ahead of print]. PMID: 30572722
- Malekkou A, Samarani M, Drousiotou A, Votsi C, Sonnino S, Pantzaris M, Chiricozzi E, Zamba-Papanicolaou E, Aureli M, Loberto N, Christodoulou K. Biochemical characterization of the GBA2 c.1780G>C missense mutation in lymphoblastoid cells from patients with spastic ataxia. Int J Mol Sci. 2018 Oct 10;19(10). pii: E3099. doi: 10.3390/ijms19103099. PMID: 30308956
- Minaidou A, Nicolaou P, Christodoulou K. LRSAM1 depletion affects neuroblastoma SH-SY5Y cell growth and morphology: The LRSAM1 c.2047-1G>A loss-of-function variant fails to rescue the phenotype. Cell J. 2018 Oct;20(3):340-347. doi: 10.22074/cellj.2018.5352. Epub 2018 May 15. PMID: 29845787
- Konstantopoulos K, Zamba-Papanicolaou E, Christodoulou K. Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation. Neurol Sci. 2018 May 26. doi: 10.1007/s10072-018-3453-8. [Epub ahead of print]. PMID: 29804168
- Demetriou CA, Heraclides A, Salafori C, Tanteles GA, Christodoulou K, Christou Y, Zamba-Papanicolaou E. Epidemiology of Huntington disease in Cyprus: a 20 year retrospective study. Clin Genet. 2018 Mar;93(3):656-664. doi: 10.1111/cge.13168. Epub 2018 Feb 8. PMID: 29105741
- Dardiotis E, Panagiotou E, Provatas A, Christodoulou K, Hadjisavvas A, Antoniades A, Lourbopoulos A, Pantzaris M, Grigoriadis N, Hadjigeorgiou GM, Kyriakides T. Gene variants of adhesion molecules act as modifiers of disease severity in Multiple Sclerosis. Neurol Neuroimmunol Neuroinflamm. 2017 Apr 24;4(4):e350. doi: 10.1212/NXI.0000000000000350. eCollection 2017 Jul. PMID: 28473999
- Chairta P, Nicolaou P, Christodoulou K. Genomic and Genetic studies of Systemic Sclerosis: a systematic review. Hum Immunol. 2017 Feb;78(2):153-165. doi: 0.1016/j.humimm.2016.10.017. Epub 2016 Oct 29. Review. PMID: 27984087
- Votsi C, Toufexis C, Michailidou K, Antoniades A, Skordis N, Karaolis M, Pattichis CS, Christodoulou K. Type 2 Diabetes susceptibility in the Greek-Cypriot population: Replication of associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 polymorphisms. Genes (Basel). 2017 Jan 6;8(1). pii: E16. doi: 10.3390/genes8010016. PMID: 28067832
- Theodorou L, Nicolaou P, Koutsou P, Georghiou A, Anastasiadou V, Tanteles G Kyriakides T, Zamba-Papanicolaou E, Christodoulou K. Genetic findings of Cypriot Spinal Muscular Atrophy patients. Neurol Sci. 2015 Oct;36(10):1829-34. doi: 10.1007/s10072-015-2263-5. Epub 2015 May 28. PMID: 26017350
- Koutsis G, Kladi A, Karadima G, Houlden H, Wood NW, Christodoulou K, Panas M. A study of hereditary ataxias in the Greek population. Archives of Hellenic Medicine. 2014;31(4):433-445.
- Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K. A novel GBA2 gene missense mutation in spastic ataxia. Ann Hum Genet. 2014 Jan;78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20. PMID:24252062
- Koutsis G, Kladi A, Karadima G, Houlden H, Wood NW, Christodoulou K, Panas M. Friedreich’s ataxia and other hereditary ataxias in Greece: An 18-year perspective. J Neurol Sci. 2014 Jan 15;336(1-2):87-92. doi: 10.1016/j.jns.2013.10.012. Epub 2013 Oct 16. PMID: 24209901
- Votsi C, Christodoulou K. Molecular diagnosis of autosomal recessive cerebellar ataxias in the whole exome/genome sequencing era. World J Neurol 2013 December 28; 3(4): 115-128. Available from: URL: http://www.wjgnet.com/2218-6212/full/v3/i4/115.htm. doi:10.5316/wjn.v3.i4.115
- Nicolaou P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol. 2013 Sep 28;3(3):42-55. Available from: URL: http://www.wjgnet.com/2218-6212/full/v3/i3/42.htm. doi: 10.5316/wjn.v3.i3.42
- Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. Eur J Hum Genet. 2013 Feb;21(2):190-4. doi: 10.1038/ejhg.2012.146. Epub 2012 Jul 11. PMID:22781092
- Votsi C, Zamba-Papanicolaou E, Georghiou A, Kyriakides T, Papacostas S, Kleopa KA, Pantzaris M, Christodoulou K. Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations. J Neurol Sci. 2012 Dec 15;323(1-2):154-7. doi: 10.1016/j.jns.2012.09.006. Epub 2012 Sep 29. PMID: 23026538
- Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years. Clin Genet. 2011 Dec;80(6):586-90. doi: 10.1111/j.1399-0004.2010.01603.x. Epub 2010 Dec 20. PMID: 21166788
- Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. EMQN Best Practice Guidelines for molecular genetic testing of SCAs. Eur J Hum Genet. 2010 Nov;18(11):1173-6. Epub 2010 Feb 24. No abstract available. Erratum in: Eur J Hum Genet. 2010 Nov;18(11):1176-7. multiple author names added. PMID: 20179742
- Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, Georghiou A, Hadjigeorgiou G, Papadimitriou A, Kyriakides T, Christodoulou K. Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics. Neuroepidemiology 2010 Jun 23;35(3):171-177. PMID: 20571287
- Daiou C, Christodoulou K, Xiromerisiou G, Panas M, Dardiotis E, Kladi A, Speletas M, Ntaios G, Papadimitriou A, Germenis A, Hadjigeorgiou GM. Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene. Neurol Sci. 2010 Jun;31(3):393-7. Epub 2009 Dec 2. PMID: 19953284
- Dardiotis E, Koutsou P, Zamba-Papanicolaou E, Vonta I, Hadjivassiliou M, Hadjigeorgiou G, Cariolou M, Christodoulou K, Kyriakides T. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. J Neurol Sci. 2009 Sep 15;284(1-2):158-62. PMID: 19493541
- Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou K. High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus. Acta Myol. 2009 Jul;28(1):24-26. PMID: 19772192
- Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C, Vassilopoulos D. Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. Neurologist. 2009 May;15(3):156-60. PMID: 19430273
- Dardiotis E, Koutsou P, Papanicolaou EZ, Vonta I, Kladi A, Vassilopoulos D, Hadjigeorgiou G, Christodoulou K, Kyriakides T. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid. 2009 Mar;16(1):32-37. PMID: 19291512
- Yoon G, Westmacott R, MacMillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect - Complete deletion of the aprataxin gene: Ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. BMJ Case Rep. 2009;2009. pii: bcr08.2008.0688. Epub 2009 Feb 2. PMID: 21686683
- Mintchev N, Zamba-Papanicolaou E, Kleopa K, Christodoulou K. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. Neurology. 2009 Jan 6;72(1):28-32. PMID: 19122027
- Nicolaou P, Georghiou A, Votsi C, Middleton LT, Zamba-Papanicolaou E, Christodoulou K. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. BMC Med Genet. 2008 Apr 14;9(1):28. PMID: 18405395
- Yoon G, Westmacott R, MacMillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B. Complete deletion of the aprataxin gene: Ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. J Neurol Neurosurg Psychiatry 2008 Feb;79(2):234-6. PMID: 18202221
- Butinar D, Starr A, Zidar J, Koutsou P, Christodoulou K. Auditory nerve is affected in one of two different point mutations of the neurofilament light (NF-L) gene. Clin Neurophysiol 2008 Feb;119(2):367-75. Epub 2007 Nov 26. PMID: 18023247
- Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG. Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy. J Interv Card Electrophysiol 2007 Jun;19(1):1-7. Epub 2007 Jun 29. PMID: 17605093
- Tsezou A, Karachalios T, Fytili P, Giannatou E, Christodoulou K, Hadjigeorgiou GM, Malizos K. Absence of linkage to chromosomes 6q and 16p in a Greek population with knee osteoarthritis. J Orthopaed Res 2006 Sep;24(9):1900-1905. PMID: 16865722
- Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajar J, Murphy J, Christodoulou K. A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease. Can J Neurol Sci 2006 Aug;33(3): 311-316. PMID: 17001820
- Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadi H, Patrinos GP. The Cypriot and Iranian National Mutation Frequency databases, Human Mutation 2006 Jun;27(6): 598-599. PMID: 16705699
- Kleopa K, Zamba-Papanicolaou E, Nicolaou P, Georgiou DM, Kyriakides T, Christodoulou K. Phenotypic and cellular expression of two novel Connexin32 mutations causing CMTX, Neurology 2006 66: 396-402. PMID: 16476939
- Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Ellsworth RE, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt 10):2304-2314. PMID: 16014653
- Kleopa AK, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K. A novel PMP22 mutation Ser22Phe in a family with HNPP and CMT1A phenotypes. Neurogenetics. 2004 Sep;5(3):171-175. PMID: 15205993
- Sismani C, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema HG, Bokhoven Hv H, Tzoufi M, Georgiou I, Patsalis PC. A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33. Am J Med Genet. 2003 Sep 15;122A(1):46-50. PMID: 12949971
- 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, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. Am J Hum Genet 2003 May;72(5):1293-1299. PMID: 12690580
- Zamba-Papanicolaou E, Christodoulou K, Christodoulou C, Kyriakides T, Middleton LT. Hereditary Motor Neuronopathies. Rev Neurol (Paris). 2002 Dec;158(121): 1220-1224. PMID: 12690745
- Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 2002 Oct;4(2):93-96. PMID: 12481988
- Chen W, Campell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolides LS, Economou E, Kyamides Y, Christodoulou K, Faghel C, Giguere CM, Alford RL, Manolides S, Van Camp G, Smith RJH. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. J Med Genet 2002 Jul; 39(7):473-477. PMID: 12114476
- Vance JM, Middleton LT, Christodoulou K, Georghiou DM, Kyriakides T, Zamba E, Zidar J. Editorial. Acta Myol 2001 May; Vol. XX:1-3.
- Georgiou DM, Jedrzejowska H, Ryniewicz B, Hausmanowa-Petrucewicz I, Zamba E, Kyriakides T, Christodoulou K, Middleton LT. Molecular genetic studies in axonal AR-CMT. Acta Myol 2001 May; Vol. XX:35-38.
- Zamba E, Christodoulou K, Al-Qudah AK, Horani K, Kyriakides T, Middleton LT, Mubaidin A. Autosomal recessive distal hereditary motor neuropathies. Acta Myol 2001 May; Vol. XX:53-56.
- Christodoulou K, Deymeer F, Serdaroglu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT. Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics 2001 Jul;3(3):127-132. PMID: 11523563
- Bently DR, Deloukas P, Dunham A, French L, Gregory SG, Humphray SJ, et al. The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. Nature 2001; 409:942-943.
- Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton LT. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol 2000 Dec;48(6):877-884. PMID: 11117544
- Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol 2000 Sep;116(3):449-62. PMID: 10962020
- Mirabella M, Christodoulou K, Di Giovanni S, Ricci E, Tonali P, Servidei S. An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1. Neurol Sci. 2000 April 21(2):99-102. PMID: 10938188
- Christodoulou K, Neocleous V, Tsingis M, Pantzaris M, Kyriallis K, Zamba E, Bairactaris C, Mavrommatis I, Middleton L, Mylonas I. Autosomal recessive congenital myasthenic syndrome in three Greek-Gypsy families. Acta Myol. 2000 April Vol. XIX: 41-43.
- Zamba E, Christodoulou K, Al-Shehab A, Mubaidin A, Neocleous V, Tsingis M, Abu-Sheik S, Middleton L, Horany K, Al-Qudah AK. Clinical and genetic heterogeneity in autosomal recessive CMS Jordanian families. Acta Myol. 2000 April Vol. XIX: 37-40.
- Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May 25(1):17-19. PMID: 10802647
- Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP. Genetic Refinement and Physical Mapping of the CMT4B Gene on Chromosome 11q22. Genomics. 2000 Jan 15;63(2):271-278. PMID: 10673338
- Middleton LT, Christodoulou K, Mubaidin A, Zamba E, Tsingis M, Kyriacou K, Abu-Sheikh S, Kyriakides T, Neocleous V, Georgiou DM, El-Khateeb M, al-Qudah A, Horany K. Distal hereditary motor neuronopathy of the Jerash type. Ann N Y Acad Sci. 1999 Sep 14;883:65-8. PMID: 10586232
- Middleton LT, Christodoulou K, Mubaidin A, Zamba E, Tsingis M, Kyriacou K, Abu-Sheikh S, Kyriakides T, Neocleous V, Georgiou DM, El-Khateeb M, al-Qudah A, Horany K. Distal hereditary motor neuronopathy of the Jerash type. Ann N Y Acad Sci. 1999 Sep 14;883:439-442
- Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroglu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. Neurology. 1999 Sep 22;53(5):1076-82. PMID: 10496269
- Yiapijakis C, Neocleous V, Papadopoulou E, Kladi A, Georgiou DM, Tsingis M, Panteliades C, Anastasiades V, Vassilopoulos D, Christodoulou K. Mutation screening in Neurofibromatosis type I patients from Greece and Cyprus. Balkan J Med Genet. 1999 2 (1): 9-12
- Christodoulou K, Papadopoulou E, Tsingis M, Engel WK, Askanas V, Middleton LT. Autosomal recessive form of hereditary inclusion body myopathy (AR HIBM): Genetic studies. Acta Myologica. 1999 Vol. 3: 33.
- Kyriakides T, Kassianides B, Papadopoulou E, Kyriacou K, Drousiotou A, Christodoulou K, Middleton LT. A Cypriot family with a novel γ-sarcoglycan mutation presenting clinically and immunocytochemically as Becker muscular dystrophy (BMD). Acta Myologica. 1999 Vol. 3: 91.
- Christodoulou K. Latest developments in the genetics of hereditary myopathies and myasthenias. Archives of Pathologic Anatomy (Greek). 1999 1 (5): 56-61.
- Kyriakides T, Christodoulou K, Zamba E, Middleton L. Hereditary motor neuronopathies, clinical, neurophysiological and genetic aspects. Acta Myologica. 1998 Dec Vol. II: 55-58.
- Middleton LT, Pantzaris M, Zamba E, Kyriallis K, Christodoulou K. Inherited Myasthenic Syndromes. Acta Myologica. 1998 Dec Vol. II: 47-53.
- Christodoulou K, Papadopoulou E, Tsingis M, Askanas V, Engel WK, McFerrin J, Dalakas M, Rowland LP, Mirabella M, Middleton LT. Narrowing of the gene locus for autosomal-recessive quadriceps sparing inclusion-body myopathy (ARQS-IBM) to chromosome 9p1. Acta Myologica. 1998 Dec Vol. II: 7-9.
- Middleton LT, Christodoulou K, Deymeer F, Serdaroglu P, Ozdemir C, al-Qudah AK, al-Shehab A, Mavromatis I, Mylonas I, Evoli A, Tsingis M, Zamba E, Kyriallis K. Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity. Ann N Y Acad Sci. 1998 May 13;841:157-66. PMID: 9668234
- Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, Ioannou P, Pierides A, Constantinou Deltas C. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet. 1998 May;7(5):905-11. PMID: 9536096
- Stavrou C, Pierides A, Zouvani I, Kyriacou K, Antignac C, Neophytou P, Christodoulou K, Deltas CC. Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1. Am J Med Genet. 1998 May 1;77(2):149-54. PMID: 9605289
- Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, Al-Shehab A, Bairactaris C, Mavromatis I, Mylonas I, Evoli A, Kyriallis K, Middleton LT. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. Hum Mol Genet. 1997 Apr;6(4):635-40. PMID: 9097970
- Deltas CC, Christodoulou K, Tjakouri C, Pierides A. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families. Clin Genet. 1996 Jul;50(1):10-8. PMID: 8891380
- Kyriakides T, Christodoulou K, Soediono O, Kyriakou K, Shehab AA, Dasouki M, Khouri M, Najim Al-Din A, Vance J, Ozawa E, Middleton L. Severe childhood autosomal recessive muscular dystrophy (SCARMD) in Jordan exhibits heterogeneity at protein and DNA level. 1996 Acta Cardiomiologica 8(2):59.
- Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, Ivanova T, Weber JL, Middleton LT. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet. 1995 Sep;4(9):1629-32. PMID: 8541851
- Constantinou-Deltas C, Papageorgiou E, Boteva K, Christodoulou K, Pierides A. Weak evidence for allelic association in the Cypriot PKD1 population. Autosomal dominant polycystic kidney disease. Contrib Nephrol 1995 Vol. 115, Ed by G.M. Berlyne and S. Giavannetti, S. Karger Publishers, Basel, Switzerland, p. 93-96. PMID: 8585925
- Constantinou-Deltas CD, Papageorgiou E, Boteva K, Christodoulou K, Breuning MH, Peter DJ, Pierides A. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families. Hum Genet. 1995 Apr;95(4):416-23. PMID: 7705838
- Christodoulou K, Ioannou P, Middleton LT. Molecular genetic detection of Xp21 muscular dystrophy carriers in Cyprus. Biomed and Pharmacother. 1994;48: 355-358. PMID: 7858171
- Ben Hamida M, Belal S, Sirugo G, Ben Hamida C, Panayides K, Ioannou P, Beckmann J, Mandel JL, Hentati F, Koenig M, Middleton LT. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology. 1993 Nov;43(11):2179-83. PMID: 8232925
- Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M, Middleton LT. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. Am J Hum Genet. 1992 Dec;51(6):1372-6. PMID: 1463017
- Middleton LT, Anastasiades V, Panayidou K, Georghiou D, Kalli E, Gabriel G, Myrianthopoulos NC. New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects. Am J Med Genet. 1992 Dec 1;44(6):757-61. PMID: 1481843
- Ioannou P, Christopoulos G, Panayides K, Kleanthous M, Middleton L. Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology. 1992 Sep;42(9):1783-90. PMID: 1513470
- Panayides K, Schizas C, Pattichis C, Theodosiou A, Middleton LT. Genetics-based-machine-learning in clinical electromyography. Artificial Neural Networks, 1991 Vol. 2, Ed by T. Kohonen, K. Makisava, O. Simula and J. Kangas, Elsevier Science Publishers B.V., North-Holland, p. 1625-1628.
Reviews and Chapters
1. Votsi C, Christodoulou K. Molecular diagnosis of autosomal recessive cerebellar ataxias in the whole exome/genome sequencing era. World J Neurol 2013 December 28; 3(4): 115-128. Available from: URL: http://www.wjgnet.com/2218-6212/full/v3/i4/115.htm. doi:10.5316/wjn.v3.i4.115
2. Nicolaou P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol. 2013 Sep 28;3(3):42-55. Available from: URL: http://www.wjgnet.com/2218-6212/full/v3/i3/42.htm. doi: 10.5316/wjn.v3.i3.42
3. Constantinou-Deltas C, Papageorgiou E, Boteva K, Christodoulou K, Pierides A. Weak evidence for allelic association in the Cypriot PKD1 population. Autosomal dominant polycystic kidney disease. Contrib Nephrol 1995 Vol. 115, Ed by G.M. Berlyne and S. Giavannetti, S. Karger Publishers, Basel, Switzerland, p. 93-96. PMID: 8585925
4. Panayides K, Schizas C, Pattichis C, Theodosiou A, Middleton LT. Genetics-based-machine-learning in clinical electromyography. Artificial Neural Networks, 1991 Vol. 2, Ed by T. Kohonen, K. Makisava, O. Simula and J. Kangas, Elsevier Science Publishers B.V., North-Holland, p. 1625-1628.