Neurogenetics Publications Archive
Neurogenetics Department
Publications Archive
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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 (IF: 2.784)
11. 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 (IF: 1.180)
12. 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 (IF: 6.473)
13. 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 (IF: 5.690)
14. 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 (IF: 7.535)
15. 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 (IF: 3.115)
16. 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 (IF: 2.603)
17. 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 (IF: 11.602)
18. Zamba-Papanicolaou E, Christodoulou K, Christodoulou C, Kyriakides T, Middleton LT. Hereditary Motor Neuronopathies. Rev Neurol (
19. 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 (IF: 3.361)
20. 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 (IF: 7.774)
21. Bentley DR, Deloukas P, Dunham A, French L, Gregory SG, Humphray SJ, Mungall AJ, Ross MT, Carter NP, Dunham I, Scott CE, Ashcroft KJ, Atkinson AL, Aubin K, Beare DM, Bethel G, Brady N, Brook JC, Burford DC, Burrill WD, Burrows C, Butler AP, Carder C, Catanese JJ, Clee CM, Clegg SM, Cobley V, Coffey AJ, Cole CG, Collins JE, Conquer JS, Cooper RA, Culley KM, Dawson E, Dearden FL, Durbin RM, de Jong PJ, Dhami PD, Earthrowl ME, Edwards CA, Evans RS, Gillson CJ, Ghori J, Green L, Gwilliam R, Halls KS, Hammond S, Harper GL, Heathcott RW, Holden JL, Holloway E, Hopkins BL, Howard PJ, Howell GR, Huckle EJ, Hughes J, Hunt PJ, Hunt SE, Izmajlowicz M, Jones CA, Joseph SS, Laird G, Langford CF, Lehvaslaiho MH, Leversha MA, McCann OT, McDonald LM, McDowall J, Maslen GL, Mistry D, Moschonas NK, Neocleous V, Pearson DM, Phillips KJ, Porter KM, Prathalingam SR, Ramsey YH, Ranby SA, Rice CM, Rogers J, Rogers LJ, Sarafidou T, Scott DJ, Sharp GJ, Shaw-Smith CJ, Smink LJ, Soderlund C, Sotheran EC, Steingruber HE, Sulston JE, Taylor A, Taylor RG, Thorpe AA, Tinsley E, Warry GL, Whittaker A, Whittaker P, Williams SH, Wilmer TE, Wooster R, Wright CL. Bentley DR, Deloukas P, Dunham A, French L, Gregory SG, Humphray SJ, Mungall AJ, Ross MT, Carter NP, Dunham I, Scott CE, Ashcroft KJ, Atkinson AL, Aubin K, Beare DM, Bethel G, Brady N, Brook JC, Burford DC, Burrill WD, Burrows C, Butler AP, Carder C, Catanese JJ, Clee CM, Clegg SM, Cobley V, Coffey AJ, Cole CG, Collins JE, Conquer JS, Cooper RA, Culley KM, Dawson E, Dearden FL, Durbin RM, de Jong PJ, Dhami PD, Earthrowl ME, Edwards CA, Evans RS, Gillson CJ, Ghori J, Green L, Gwilliam R, Halls KS, Hammond S, Harper GL, Heathcott RW, Holden JL, Holloway E, Hopkins BL, Howard PJ, Howell GR, Huckle EJ, Hughes J, Hunt PJ, Hunt SE, Izmajlowicz M, Jones CA, Joseph SS, Laird G, Langford CF, Lehvaslaiho MH, Leversha MA, McCann OT, McDonald LM, McDowall J, Maslen GL, Mistry D, Moschonas NK, Neocleous V, Pearson DM, Phillips KJ, Porter KM, Prathalingam SR, Ramsey YH, Ranby SA, Rice CM, Rogers J, Rogers LJ, Sarafidou T, Scott DJ, Sharp GJ, Shaw-Smith CJ, Smink LJ, Soderlund C, Sotheran EC, Steingruber HE, Sulston JE, Taylor A, Taylor RG, Thorpe AA, Tinsley E, Warry GL, Whittaker A, Whittaker P, Williams SH, Wilmer TE, Wooster R, Wright CL. The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. Nature. 2001 409:942-3.
22. 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 Myologica 2001 May; Vol. XX:35-38.
23. Zamba E, Christodoulou K, Al-Qudah AK, Horani K, Kyriakides T, Middleton LT, Mubaidin A. Autosomal recessive distal hereditary motor neuropathies. ACTA Myologica 2001 May; Vol. XX:53-56.
24. 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 (IF: 3.069)
25. 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 (IF: 8.480)
26. 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 (IF: 6.082)
27. 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. Neurolog Sci. 2000 April 21(2):99-102.
28. 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 Myologica. 2000 April Vol. XIX: 41-43.
29. 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 Myologica. 2000 April Vol. XIX: 37-40.
30. 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 (IF: 30.910)
31. 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 (IF: 3.425)
32. 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 (IF: 0.964)
33. 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 (IF: 5.232)
34. 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.
35. Christodoulou K. Latest developments in the genetics of hereditary myopathies and myasthenias. Archives of Pathologic Anatomy (Greek). 1999 1 (5): 56-61.
36. Kyriakides T, Christodoulou K, Zamba E, Middleton L. Hereditary motor neuronopathies, clinical, neurophysiological and genetic aspects. Acta Myologica. 1998 Dec Vol. II: 55-58.
37. Middleton LT, Pantzaris M, Zamba E, Kyriallis K, Christodoulou K. Inherited Myasthenic Syndromes. Acta Myologica. 1998 Dec Vol. II: 47-53.
38. 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.
39. 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 (IF: 0.959)
40. 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 (IF: 9.307)
41. 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 (IF: 2.031)
42. 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 (IF: 8.505)
43. 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 (IF: 0.996)
44. 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 (IF: 5.273)
45. 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 (IF: 2.551)
46. Christodoulou K, Ioannou P, Middleton LT. Molecular genetic detection of Xp21 muscular dystrophy carriers in
47. 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 (IF: 3.990)
48. 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 (IF: 9.076)
49. 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 (IF: 1.671)
50. 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 (IF: 4.355)
Reviews and Chapters
1. 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
2. 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.
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