A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis P Zisimopoulou, P Evangelakou, J Tzartos, K Lazaridis, V Zouvelou, ... Journal of autoimmunity 52, 139-145, 2014 | 310 | 2014 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 191 | 2019 |
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 | 148 | 2005 |
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study D Adams, M Polydefkis, A González-Duarte, J Wixner, AV Kristen, ... The Lancet Neurology 20 (1), 49-59, 2021 | 123 | 2021 |
MuSK autoantibodies in myasthenia gravis detected by cell based assay—a multinational study AI Tsonis, P Zisimopoulou, K Lazaridis, J Tzartos, E Matsigkou, ... Journal of neuroimmunology 284, 10-17, 2015 | 84 | 2015 |
Titin antibodies in “seronegative” myasthenia gravis—a new role for an old antigen C Stergiou, K Lazaridis, V Zouvelou, J Tzartos, R Mantegazza, C Antozzi, ... Journal of neuroimmunology 292, 108-115, 2016 | 74 | 2016 |
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 | 69 | 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 | 61 | 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 | 61 | 2006 |
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 |
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 | 51 | 2014 |
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 | 51 | 2001 |
Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease KA Kleopa, K Kyriacou, E Zamba‐Papanicolaou, T Kyriakides Muscle & Nerve: Official Journal of the American Association of …, 2005 | 49 | 2005 |
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 | 47 | 2009 |
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 | 43 | 1999 |
Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress A Koutsoulidou, M Photiades, TC Kyriakides, K Georgiou, M Prokopi, ... Human molecular genetics 26 (17), 3285-3302, 2017 | 40 | 2017 |
A novel c. 5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia P Nicolaou, A Georghiou, C Votsi, LT Middleton, E Zamba-Papanicolaou, ... BMC Medical Genetics 9, 1-6, 2008 | 40 | 2008 |
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease P Nicolaou, C Cianchetti, A Minaidou, G Marrosu, E Zamba-Papanicolaou, ... European Journal of Human Genetics 21 (2), 190-194, 2013 | 36 | 2013 |
Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics P Nicolaou, E Zamba-Papanicolaou, P Koutsou, KA Kleopa, A Georghiou, ... Neuroepidemiology 35 (3), 171-177, 2010 | 35 | 2010 |