| 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 | 717 | 2003 |
| 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 | 565 | 2000 |
| 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 | 161 | 1993 |
| Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ... Neuromuscular Disorders 31 (6), 574-582, 2021 | 156 | 2021 |
| 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 | 156 | 1998 |
| 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 | 153 | 2005 |
| 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 | 140 | 1995 |
| 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, 93-96, 2002 | 136 | 2002 |
| 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 | 125 | 2002 |
| 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 | 89 | 2000 |
| 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 | 73 | 2000 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of neurology 86 (2), 225-240, 2019 | 72 | 2019 |
| Risk factors for breast cancer brain metastases: a systematic review L Koniali, A Hadjisavvas, A Constantinidou, K Christodoulou, Y Christou, ... Oncotarget 11 (6), 650, 2020 | 66 | 2020 |
| 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 | 62 | 2006 |
| Genomic and genetic studies of systemic sclerosis: A systematic review P Chairta, P Nicolaou, K Christodoulou Human Immunology 78 (2), 153-165, 2017 | 55 | 2017 |
| 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 | 53 | 2014 |
| 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 | 53 | 2009 |
| 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 | 51 | 2011 |
| 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 | 51 | 2010 |
| 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 Özdemir, M Poda, ... Neurogenetics 3, 127-132, 2001 | 50 | 2001 |
