Kyproula Christodoulou
Kyproula Christodoulou
Professor, Cyprus School of Molecular Medicine
Verified email at cing.ac.cy - Homepage
Title
Cited by
Cited by
Year
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
A Antonellis, RE Ellsworth, N Sambuughin, I Puls, A Abel, SQ Lee-Lin, ...
The American Journal of Human Genetics 72 (5), 1293-1299, 2003
5982003
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
MAP Bolino A, Muglia M, Conforti FL, LeGuern E, Salih
Nature genetics 25, 17, 2000
5242000
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD)
K Christodoulou, M Tsingis, C Stavrou, A Eleftheriou, P Papapavlou, ...
Human molecular genetics 7 (5), 905-911, 1998
1381998
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
K Christodoulou, T Kyriakides, AH Hristova, DM Georgiou, L Kalaydjieva, ...
Human molecular genetics 4 (9), 1629-1632, 1995
1381995
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
K Sivakumar, T Kyriakides, I Puls, GA Nicholson, B Funalot, A Antonellis, ...
Brain 128 (10), 2304-2314, 2005
1332005
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
DM Georgiou, J Zidar, M Korošec, LT Middleton, T Kyriakides, ...
Neurogenetics 4 (2), 93-96, 2002
1222002
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21. 3-22.3
W Chen, CA Campbell, GE Green, K Van Den Bogaert, C Komodikis, ...
Journal of medical genetics 39 (7), 473-477, 2002
1042002
Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome
HL Wang, K Ohno, M Milone, JM Brengman, A Evoli, AP Batocchi, ...
The Journal of general physiology 116 (3), 449-462, 2000
762000
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21. 1–p12
K Christodoulou, E Zamba, M Tsingis, A Mubaidin, K Horani, S Abu‐Sheik, ...
Annals of neurology 48 (6), 877-884, 2000
622000
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families
MB Hamida, S Belal, G Sirugo, CB Hamida, K Panayides, P Ionannou, ...
Neurology 43 (11), 2179-2179, 1993
621993
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
KA Kleopa, E Zamba-Papanicolaou, X Alevra, P Nicolaou, DM Georgiou, ...
Neurology 66 (3), 396-402, 2006
542006
Mapping of the second Friedreich's ataxia (FRDAff2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity
K Christodoulou, F Deymeer, P Serdaroğlu, C Ízdemir, M Poda, ...
Neurogenetics 3 (3), 127-132, 2001
512001
Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis
P Ioannou, G Christopoulos, K Panayides, M Kleanthous, L Middleton
Neurology 42 (9), 1783-1783, 1992
441992
Huntington's disease in Greece: the experience of 14 years
M Panas, G Karadima, E Vassos, N Kalfakis, A Kladi, K Christodoulou, ...
Clinical genetics 80 (6), 586-590, 2011
432011
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia
C Votsi, E Zamba‐Papanicolaou, LT Middleton, M Pantzaris, ...
Annals of human genetics 78 (1), 13-22, 2014
422014
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor ε-subunit gene
L Middleton, K Ohno, K Christodoulou, J Brengman, M Milone, ...
Neurology 53 (5), 1076-1076, 1999
401999
EMQN Best Practice Guidelines for molecular genetic testing of SCAs
J Sequeiros, J Martindale, S Seneca
European journal of human genetics 18 (11), 1173-1176, 2010
382010
Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met
E Dardiotis, P Koutsou, E Zamba-Papanicolaou, I Vonta, M Hadjivassiliou, ...
Journal of the neurological sciences 284 (1-2), 158-162, 2009
372009
Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus
E Dardiotis, P Koutsou, EZ Papanicolaou, I Vonta, A Kladi, ...
Amyloid 16 (1), 32-37, 2009
372009
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity
K Christodoulou, M Tsingis, F Deymeer, P Serdaroglu, C Ozdemir, ...
Human molecular genetics 6 (4), 635-640, 1997
351997
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