Auditory nerve is affected in one of two different point mutations of the neurofilament light gene

Por Butinar, Dušan, Starr, Arnold, Zidar, Janez, Koutsou, Pantelitsa, Christodoulou, Kyproula
Publicado em 2007

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Por Nicolaou, Paschalis, Georghiou, Anthi, Votsi, Christina, Middleton, Lefkos T, Zamba-Papanicolaou, Eleni, Christodoulou, Kyproula
Publicado em 2008

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Por Nicolaou, Paschalis, Cianchetti, Carlo, Minaidou, Anna, Marrosu, Giovanni, Zamba-Papanicolaou, Eleni, Middleton, Lefkos, Christodoulou, Kyproula
Publicado em 2013

Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms

Por Votsi, Christina, Toufexis, Costas, Michailidou, Kyriaki, Antoniades, Athos, Skordis, Nicos, Karaolis, Minas, Pattichis, Constantinos S., Christodoulou, Kyproula
Publicado no Genes (Basel) (2017)

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

Por Yoon, Grace, Westmacott, Robyn, MacMillan, Lynn, Quercia, Nada, Koutsou, Pantelitsa, Georghiou, Anthi, Christodoulou, Kyproula, Banwell, Brenda
Publicado em 2009

Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome

Por Wang, Hai-Long, Ohno, Kinji, Milone, Margherita, Brengman, Joan M., Evoli, Amelia, Batocchi, Anna-Paola, Middleton, Lefkos T., Christodoulou, Kyproula, Engel, Andrew G., Sine, Steven M.
Publicado em 2000

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Por Antonellis, Anthony, Ellsworth, Rachel E., Sambuughin, Nyamkhishig, Puls, Imke, Abel, Annette, Lee-Lin, Shih-Queen, Jordanova, Albena, Kremensky, Ivo, Christodoulou, Kyproula, Middleton, Lefkos T., Sivakumar, Kumaraswamy, Ionasescu, Victor, Funalot, Benoit, Vance, Jeffery M., Goldfarb, Lev G., Fischbeck, Kenneth H., Green, Eric D.
Publicado em 2003